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Glossary for Circulatory system conditions

  • 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • AAA: Anoutpouching at an area of weakness in the abdominal aorta involving all 3 layers of the artery wall.
  • Abdominal Aneurysm: Dilatation of a section of the abdominal aorta, usually due to a weakness in the wall of the artery
  • Abdominal aortic aneurysm: A weakness and bulging of a section of an abdominal blood vessel called the abdominal aorta. It is usually associated with severe atherosclerosis in the blood vessel.
  • Aberrant subclavian artery abnormality: A rare defect where one the subclavian artery arises from an abnormal location on the aortic arch. The defect may cause compression of organs such as the airway and the voice box.
  • Abnormal pulse: throbbing of the arteries due to the effect of the heart rate
  • Absence of pulmonary artery: The absence of a pulmonary artery at birth.
  • Acardia: A very rare condition where a baby is without a heart. This normally occurs in conjoined twins where the heart of one of the twins pumps the blood through both bodies.
  • Accelerated hypertension: Accelerated hypertension is a condition characterized by a rapid increase in blood pressure. The condition is a medical emergency which can cause organ damage if not treated promptly.
  • Acrocephaly -- pulmonary stenosis -- mental retardation: A rare syndrome characterized by a pointy skull, narrowed pulmonary valve and mental retardation.
  • Acrocyanosis: An uncommon disorder of blood vessels, causing cold, pale skin.
  • Acute hemorrhagic leukoencephalitis: A rare brain disease involving destruction of blood vessel walls, hemorrhages and swelling in the brain. The disease may be associated with a virus or vaccination. The disease can progress rapidly and death is common but treatment can result in complete recovery in some cases.
  • Acute peripheral arterial occlusion: A sudden blockage of a peripheral artery. The blockage may result from a blood clot, embolism, dissection or trauma. Symptoms usually start suddenly.
  • Adams Nance syndrome: A rare genetic disorder characterized by rapid heartbeat, high blood pressure, small eyes and the presence of excess glycine in the urine.
  • Adrenal hypertension: Adrenal hypertension is high blood pressure caused by adrenal gland problems. For example, an adrenal tumor can cause excessive production of aldosterone which in turn causes salt-retention and high blood pressure. Severity of symptoms varies depending on the underlying cause.
  • Aerotitis syndrome: Trauma to the blood vessels in the ears caused by rapid changes in atmospheric pressure. Blockage of the Eustachian tube in the ear prevents equalization of air pressure and a vacuum develops inside the ear. Yawning or chewing can sometimes alleviate symptoms by opening up the Eustachian tube.
  • Air embolism: A condition which is characterized by air bubbles entering the circulation usually due to trauma, decompression sickness or surgery.
  • Al Gazali Aziz Salem syndrome: A rare syndrome characterized mainly by heart disease, short stature and a webbed neck.
  • Alcohol-induced hypertension: Alcohol-induced hypertension is high blood pressure caused by excessive drinking of alcohol.
  • Alveolar capillary dysplasia: The abnormal development of the lung blood vessels. The normal barrier across which air and blood can diffuse fails to develop properly. Death usually results within weeks of birth but rare cases can survive for months.
  • Amaurosis fugax: A rare condition where a temporary blockage of blood flow to the retina causes vision loss in the affected eye until the blood flow returns.
  • Amniotic fluid syndrome: A rare disorder where large amounts of amniotic fluid suddenly enters the blood stream. The amniotic fluid contains debris which can block blood vessels and dilutes the blood which affects coagulation. This can occur when there is an opening in a blood vessel wall and can occur if the birth involves difficult labor, older women, dead fetus syndrome or large babies. The condition can result in rapid death of the mother.
  • Amphetamine-induced hypertension: Amphetamine-induced hypertension is high blood pressure caused by use of amphetamines. Patients with an existing history of hypertension may suffer further blood pressure increases while taking amphetamines and this can be serious. Severity of symptoms varies amongst patients depending on their susceptibility, underlying health and duration of amphetamine use.
  • Amyloid angiopathy: A blood vessel disorder caused by abnormal amyloid deposits in the blood vessel walls of the brain. The deposits can cause the blood vessel to become weak and rupture resulting in intracranial bleeding. Despite the potentially serious consequences the disorder is often asymptomatic until old age.
  • Amyloid cardiopathy: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage and is potentially fatal. The cardiac form involves deposits of amyloid in the heart muscle which affects its function. The electrical conduction system of the heart is impaired.
  • Amyloid cardiopathy, familial: Amyloidosis is a rare group of metabolic disorders where a protein called amyloid accumulates in body organs and tissues where it can cause damage and is potentially fatal. The familial cardiac form is inherited and involves deposits of amyloid in the heart muscle which affects its function. The electrical conduction system of the heart is impaired.
  • Amyloidosis VI: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In the Icelandic type, the amyloid deposits affect the brain blood vessels and cause hemorrhages.
  • Amyloidosis VII: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In the Ohio type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages as well as vision impairment.
  • Amyloidosis, cerebroarterial, hereditary, Italian type: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In the Italian type, the amyloid deposits affect the brain blood vessels and cause hemorrhages.
  • Amyloidosis, oculoleptomeningeal: Amyloidosis involves the abnormal deposit of a substance called amyloid in various parts of the body. In this particular type, the amyloid deposits in the leptomeningeal blood vessels, brainstem, spinal cord and eye causing central nervous system dysfunction, brain hemorrhages and vision impairment.
  • Andersen-Tawil syndrome: A rare disorder where a genetic mutation causes periods of muscle weakness, heart rhythm abnormalities and various physical development abnormalities. It is believed to be caused by problems with the way the body utilizes potassium.
  • Aneurysm: Dangerous ballooning of a weakened area of an artery
  • Aneurysm of sinus of Valsalva: A rare form of aortic aneurysm that occurs in the sinus of Valsalva. An aneurysm is a thinning and bulging of a blood vessel wall. The condition is generally asymptomatic unless it burst and causes life-threatening complications including heart failure. An unruptured aneurysm may affect the blood flow (causing palpitations and syncope) as the bulge pushes against surrounding structures.
  • Aneurysm, Dissecting: A tear that develops in a part of the aortic blood vessel wall. The three layers of the blood vessel wall separate and cause it to weaken and the aorta to dilate. The condition is fatal if untreated as the weak spot can burst resulting in a hemorrhage.
  • Aneurysm, intracranial berry: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms.
  • Aneurysm, intracranial berry, 1: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 1 is caused by a defect on chromosome 7q11.2.
  • Aneurysm, intracranial berry, 10: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 10 is caused by a defect on chromosome 8q12.1.
  • Aneurysm, intracranial berry, 2: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 2 is caused by a defect on chromosome 19q13.
  • Aneurysm, intracranial berry, 3: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 3 is caused by a defect on chromosome 1p36.13-p34.3.
  • Aneurysm, intracranial berry, 4: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 4 is caused by a defect on chromosome 5p15.2-14.3.
  • Aneurysm, intracranial berry, 5: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 5 is caused by a defect on chromosome 2p13.
  • Aneurysm, intracranial berry, 6: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are now six different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases an individuals risk for developing intracranial berry aneurysms. Type 6 is caused by a defect on chromosome 9p21.
  • Aneurysm, intracranial berry, 7: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 7 is caused by a defect on chromosome 11q24-q25.
  • Aneurysm, intracranial berry, 8: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 8 is caused by a defect on chromosome 14q23.
  • Aneurysm, intracranial berry, 9: A bulge in a blood vessel in the brain. The bulge can rupture causing a stroke. They usually form as a result of high blood pressure and weak blood vessel walls in the brain. There are five different subtypes of intracranial berry aneurysms with each one caused by a defect in different gene. The defective gene increases and individuals risk for developing intracranial berry aneurysms. Type 9 is caused by a defect on chromosome 2q33.1.
  • Aneurysmal subarachnoid haemorrhage: Bleeding in the space around the brain that occurs from a leak in a weakened or dilated blood vessel under the arachnoid layer of the brain. Death can occur if treatment is not prompt.
  • Angiectasis pregnancy: A rare condition that occurs during the final trimester of pregnancy and involves the development of small painful areas of raised blood vessel clusters that occur on the back of the legs.
  • Angina: A special type of chest pain.
  • Angina Pectoris: Variant of Angina Pectoris, where episodic chest pain occurs without exertion or provocation, due to a transient spasm of a coronary artery; more common in women
  • Angio-osteohypotrophic syndrome: A rare disorder characterized by malformation of the peripheral (usually veins) blood vessels and skeletal abnormalities. The malformed blood vessels cause localized soft tissue swellings and if veins in bones are affected, the bone may degenerate due to an insufficient blood supply. Usually the hands are affected.
  • Angiodysplasia: Abnormality of small blood vessels - especially in the intestinal tract - which can result in bleeding. The size of the lesion involved determines the severity of the condition. Small amounts of bleeding from one lesion often goes unnoticed but multiple large lesions may cause heavy bleeding and result in black tarry stool and anemia.
  • Angiokeratoma: A harmless, discolored, raised skin lesion involving damaged blood capillaries. The lesion ranges in color from red to blue and the skin involved is usually thickened.
  • Angiokeratoma -- mental retardation -- coarse face: A rare inherited genetic syndrome characterized by mental retardation, coarse facial features and capillary hemangiomas.
  • Angioma: Clump of blood or lymph vessels usually in the skin
  • Angioma hereditary neurocutaneous: A rare genetic condition characterized angiomas involving both the skin and nervous system.
  • Angioma serpiginosum: A rare, harmless skin disorder involving linear or snake-like patches of red skin spots caused by small blood vessels near the skin's surface. The spots may occur on any part of the body but are most common on the legs and buttocks. The disorder usually appears during childhood and tends to stabilize once puberty is reached. There is no inflammation, bleeding or changes in skin pigmentation associated with the condition.
  • Angiomatosis, diffuse corticomeningeal, of Divry and Van Bogaert: A rare condition characterized by diffuse sclerosis and clusters of capillaries in parts of the brain as well as a marbled appearance to the skin.
  • Angiomyomatous Hamartoma: A type of tumor that originates from blood vessel tissue. It is a rare type of tumor that tends to occur most often in lymph nodes in the inguinal (lower abdominal and groin) area.
  • Angiopathy, hereditary, with nephropathy, aneurysms and muscle cramps: An inherited disorder characterized by kidney disease, aneurysms, blood vessel disease and muscle cramps which can last from seconds to minutes.
  • Angiosarcoma of the breast: A rare type of cancer that starts in the lining of blood vessels in the breast. It is generally an aggressive tumor which often metastasizes.
  • Angiosarcoma of the liver: A rare type of cancer that starts in the lining of blood vessels in the liver. It is generally an aggressive tumor which often metastasizes.
  • Angiosarcoma of the scalp: A rare type of cancer that starts in the lining of blood vessels in the scalp. It is generally an aggressive tumor which often metastasizes.
  • Angiotensin renin aldosterone hypertension: The RAAS (rennin-angiotensin-aldosterone system) is involved in regulating blood volume and vascular resistance and an imbalance of any of these components can cause high blood pressure.
  • Angiotensin/rennin/aldosterone hypertension: A group of disorder characterized by high blood pressure due to abnormalities in angiotensin, rennin and aldosterone levels. Adequate levels of these chemicals help to control blood volume and blood vessel resistance which in turn influences blood pressure.
  • Anophthalmia -- heart and pulmonary anomalies -- intellectual deficit: A rare disorder characterized by absent eyes, heart and lung anomalies and mental retardation.
  • Anotia -- facial palsy -- cardiac defect: A rare syndrome characterized mainly missing ears, facial weakness and congenital heart defects.
  • Antepartum Eclampsia: Antepartum eclampsia is the development of seizures or coma in pregnant women suffering from high blood pressure. Antepartum means that it occurs before delivery. Eclampsia is a serious condition which requires urgent medical treatment. Eclampsia may be associated with moderate as well as significant increases in blood pressure. The blood pressure can return to normal after delivery or may persist for a period of time.
  • Anterior cord syndrome: Neurological symptoms caused by compression of the front part of the spinal column or damage to the anterior spinal artery.
  • Anterior spinal artery stroke: An interruption to the blood supply in the anterior spinal artery which affects sensation, motor control and bowel control. The symptoms may improve to varying degrees once the blood supply returns to normal. The severity of the disorder depends on the exact location of the defect and how long it persists for.
  • Anterior spinal artery syndrome: Neurological symptoms caused by the blockage of the anterior spinal artery. The blockage may be caused by such things as trauma, cancer, thrombosis and arterial disease. Symptoms are determined by the exact location of the blockage.
  • Antiphospholipid syndrome: An autoimmune disorder characterized by blood clots and pregnancy losses.
  • Aorta conditions: Conditions that affect the aorta
  • Aorta-pulmonary artery fistula: An abnormal opening or connection between the aorta and the main pulmonary artery. It can occur through a traumatic penetrating injury or may be a complication of surgery. Severe cases can lead to heart failure.
  • Aortic Aneurysm, Thoracic: Bulging and weakness of the aorta in the area of the chest. The condition is life-threatening as death can occur rapidly if the aneurysm bursts.
  • Aortic Valve Insufficiency: A heart valve disorder where the heart valve is unable to close completely which causes a backflow of some of the blood from the aorta. The condition can be caused by such things as systemic lupus erythematosus, endocarditis, high blood pressure, Marfan's syndrome and aortic dissection.
  • Aortic aneurysm: A localised dilatation of the aorta which results in a 50% increase in its diameter
  • Aortic aneurysm, familial abdominal 1: A rare familial disorder where the abdominal aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 1 is caused by a genetic defect on chromosome 19q13.
  • Aortic aneurysm, familial abdominal 2: A rare familial disorder where the abdominal aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 2 is caused by a genetic defect on chromosome 4q31.
  • Aortic aneurysm, familial abdominal 3: A rare familial disorder where the abdominal aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 3 is caused by a genetic defect on chromosome 9p21.
  • Aortic aneurysm, familial thoracic 1: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 1 is caused by a genetic defect on chromosome 11q23.3-q24.
  • Aortic aneurysm, familial thoracic 2: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 2 is caused by a genetic defect on chromosome 5q13-q14.
  • Aortic aneurysm, familial thoracic 3: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 3 is caused by a genetic defect on chromosome 3p22.
  • Aortic aneurysm, familial thoracic 4: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 4 also involves another heart defect (patent ductus arteriosus) and is caused by a genetic defect on chromosome 16p13.13-p13.12.
  • Aortic aneurysm, familial thoracic 5: A rare familial disorder where the aorta has a weak, bulging portion. The condition is asymptomatic but can result in death if it bursts. Type 5 is caused by a genetic defect on chromosome 9q33-q34.
  • Aortic arch anomaly with peculiar facies and mental retardation: A very rare syndrome characterized by mental retardation, characteristic facial anomalies and abnormal position of the aorta.
  • Aortic arch interruption: A rare genetic birth defect where a portion of the aortic arch is missing or discontinued which severely impairs the flow of oxygenated blood to the lower body.
  • Aortic arches defect: A defect in the top part of the aorta (aortic arch) that consists of several arterial branches. There is a variety of defects that can occur and symptoms will be determined by the particular defect involved. Possible types of defects includes aortic coarctation and aortic arch hypoplasia.
  • Aortic coarctation: A rare inherited birth defect where the heart blood vessel called the aorta has a narrowed area which affects blood flow. The degree of constriction is variable which mild cases asymptomatic until adulthood. The poor blood flow to the lower body gives results in it appearing less developed than that upper body.
  • Aortic dilatation- joint hypermobility- arterial tortuosity: A rare syndrome characterized by the dilation of the aortic root, hyperextensible joints and varicose veins
  • Aortic dissection: A tear in the inner layer of the aorta (major artery in the body) which allows blood to escape into outer layers of the artery.
  • Aortic stenosis: A condition which affects the aortic valve of the heart resulting in stenosis of the valve.
  • Aortic supravalvular stenosis: A rare congenital condition involving increased intestinal calcium absorption and characterized by development delay, distinctive facial features, small nails and short stature.
  • Aortic valve disease: Disease of the heart's aortic valve
  • Aortic valve incompetence: A condition characterized by an inability of the aortic valve to function effectively
  • Aortic valve stenosis: A congenital condition involving a malformation of the valve that controls the blood flow of the main heart vessel (aorta). The valve doesn't open enough to allow sufficient blood to flow through the aorta which reduces the supply of oxygenated blood to the body.
  • Aortic valves stenosis of the child: A birth defect where the aortic valve is abnormally narrow or unable to fully open. Depending on the degree of narrowing, the symptoms may range from severe to asymptomatic.
  • Aorto-ventricular tunnel: A rare heart defect where a tunnel from between the ascending aorta and the cavity of the left or sometimes right heart ventricle. The severity of the condition is highly variable from asymptomatic for many years to fetal death. Often other heart anomalies are also associated.
  • Apparent Mineralocorticoid Excess, type 2: A form of inherited high blood pressure that starts during early childhood. The condition is caused by a genetic defect which results in an inborn error of metabolism of peripheral cortisol. Type 2 causes similar symptoms to type 1 but the urinary steroid levels are different.
  • Apparent mineralocorticoid excess: A form of inherited high blood pressure that starts during early childhood. The condition results from a genetic defect which causes impaired metabolism of cortisol.
  • Arrhythmias: Irregularity in the heart's beating rhythm.
  • Arrhythmogenic right ventricular dysplasia: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood.
  • Arrhythmogenic right ventricular dysplasia, familial, 1: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 1 is linked to chromosome 14q23-q24 (TGFB3 gene).
  • Arrhythmogenic right ventricular dysplasia, familial, 10: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 10 is linked to chromosome 18q12.1-q12 (DSG2 gene).
  • Arrhythmogenic right ventricular dysplasia, familial, 11: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 11 is linked to chromosome 18q12.1 (DSC2 gene).
  • Arrhythmogenic right ventricular dysplasia, familial, 12: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 12 is linked to chromosome 17q21 (JUP gene).
  • Arrhythmogenic right ventricular dysplasia, familial, 2: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 2 is linked to chromosome 1q42.1-q43 (RYR2 gene).
  • Arrhythmogenic right ventricular dysplasia, familial, 3: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 3 is linked to chromosome 14q12-q22.
  • Arrhythmogenic right ventricular dysplasia, familial, 4: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 4 is linked to chromosome 2q32.1-q32.3.
  • Arrhythmogenic right ventricular dysplasia, familial, 5: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 5 is linked to chromosome 3p23.
  • Arrhythmogenic right ventricular dysplasia, familial, 6: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 6 is linked to chromosome 10p14-p12.
  • Arrhythmogenic right ventricular dysplasia, familial, 7: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 7 is linked to chromosome 10q22-3.
  • Arrhythmogenic right ventricular dysplasia, familial, 8: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 8 is linked to chromosome 6p24 (DSP gene).
  • Arrhythmogenic right ventricular dysplasia, familial, 9: A rare heart muscle disease where the muscle tissue of the right ventricle of the heart is replaced by fibrous or fatty tissue which affects the ability of the heart to pump blood. Some patients are asymptomatic and whereas others experience symptoms and occasionally sudden death can occur. Type 9 is linked to chromosome 12p11 (PKP2 gene).
  • Arterial calcification of infancy: A rare disorder involving widespread calcification of arteries which obstructs blood flow.
  • Arterial dissection -- lentiginosis: A rare inherited condition characterized by arterial dissection and numerous skin macules. An arterial dissection is a blood vessel anomaly where blood leaks into the blood vessel wall through a tear in the inner lining of the blood vessel.
  • Arterial dissections with lentiginosis: A rare familial syndrome characterized by the association of aortic dissection and multiple lentigines (brown skin spots). The aorta can rupture in some cases and result in sudden death.
  • Arterial insufficiency: When amount of blood flowing through an artery is insufficient to meet the needs of the tissue.
  • Arterial occlusive disease: A condition which is characterized by occlusion of arterioles
  • Arterial occlusive disease, progressive -- hypertension -- heart defects -- bone fragility -- brachysyndactyly: A rare syndrome characterized by narrowing or blockage of a number of arteries (in the kidneys, abdomen, brain and heart) as well as fragile bones, heart defects and finger abnormalities. Fractures and high blood pressure often start during the first years of life.
  • Arterial tortuosity syndrome: A rare disorder which affects the connective tissue that makes up blood vessels resulting in various arterial abnormalities. Connective tissue abnormalities also affect the skin and joints.
  • Arteriosclerosis Obliterans: Arteriosclerosis that results in the narrowing and gradual blockage of the artery. Arteriosclerosis involves the deposition of cholesterol plaques and other material on the inside of the artery walls. The symptoms will depend on the location of the arteries affected and how severe the blockage is.
  • Arteriovenous Malformation: Birth defect of a tangle of veins and arteries.
  • Arteriovenous fistula: Connection between artery and vein.
  • Arteritis: Inflammation of an artery
  • Artery conditions: Any conditions affecting arteries
  • Atheroma: A region of plaque occurring in atherosclerosis
  • Atherosclerosis: Atherosclerosis is a syndrome affecting arterial blood vessels. It is a chronic inflammatory response in the walls of arteries, in large part due to the accumulation of macrophage white blood cells and promoted by low density (especially small particle) lipoproteins (plasma proteins that carry cholesterol and triglycerides) without adequate removal of fats and cholesterol from the macrophages by functional high density lipoproteins (HDL). It is commonly referred to as a hardening or furring of the arteries. It is caused by the formation of multiple plaques within the arteries.
  • Atherosclerosis, premature -- deafness -- diabetes mellitus -- photomyoclonus -- nephropathy -- degenerative neurologic disease: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
  • Atherosclerosis- deafness -- diabetes -- epilepsy -- nephropathy: A rare syndrome characterized mainly by deafness, diabetes, epilepsy, kidney disease and premature hardening of the arteries.
  • Atrial Fibrillation: Common heart arrythmia with rapid beating in upper chambers
  • Atrial Fibrillation, Familial 2: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 2 is linked to a genetic defect on chromosome 6q14-q16 and is inherited in an autosomal dominant manner. Symptoms tend to occur in episodes initially and then becomes chronic with increased age.
  • Atrial Fibrillation, Familial 3: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 3 is linked to a genetic defect on chromosome 11p15.5 and is inherited in an autosomal dominant manner.
  • Atrial Fibrillation, Familial 4: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 4 is linked to a genetic defect on chromosome 21q22.
  • Atrial Fibrillation, Familial 5: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 5 is linked to a genetic defect on chromosome 4q2.
  • Atrial Fibrillation, Familial 6: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 6 is linked to a genetic defect on chromosome 1p36.2 and is inherited in an autosomal dominant manner.
  • Atrial Fibrillation, Familial 7: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 7 is linked to a genetic defect on chromosome 12p13 and is inherited in an autosomal dominant manner.
  • Atrial Fibrillation, Familial 8: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases. Type 8 is linked to a genetic defect on chromosome 16q22 and is inherited in an autosomal dominant manner. Symptoms tend to occur in episodes initially and then becomes chronic with increased age.
  • Atrial Septal Defect: An abnormal connection between the 2 atria, or upper chambers of the heart
  • Atrial Septal Defect 3: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 3 is caused by a mutation on chromosome 14q12. There are no other heart abnormalities associated with the condition.
  • Atrial Septal Defect 4: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 4 is caused by a mutation on chromosome 7p15-p14. There are no other heart abnormalities associated with the condition.
  • Atrial Septal Defect 5: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 5 is caused by a mutation on chromosome 15q14. There are no other heart abnormalities associated with the condition.
  • Atrial Septal Defect 6: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 6 is caused by a mutation on chromosome 4q32-q33.
  • Atrial arrhythmia: Arrhythmia arising in the atrium.
  • Atrial cardiomyopathy with heart block: Atrial heart disease involving a disruption of the electrical signals in the heart and causes heart rhythm problems.
  • Atrial fibrillation, familial 1: A dominantly inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases.
  • Atrial flutter: Heart arrhythmia where atria beat more often than ventricles
  • Atrial myxoma, familial: An atrial myxoma benign tumor that develops in the wall that separates the two upper chambers of the heart. The familial form of the condition also involves tumors in other parts of the body such as the skin, both heart atria or the heart ventricles.
  • Atrial septal defect 1: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 1 is caused by a mutation on chromosome 6p21.3.
  • Atrial septal defect 2: A rare heart malformation involving the presence of an abnormal opening between the two atrial chambers of the heart which allows abnormal mixing of oxygenated and deoxygenated blood. The severity of the symptoms depends on the size and location of the defect with mild cases being asymptomatic until adulthood. Atrial septal defect 2 is caused by a mutation on chromosome 8p23.1-p22.
  • Atrial septal defect atrioventricular conduction: An inherited heart condition involving a heart malformation (atrial septal defect) and abnormal electrical signals between the atrium and ventricle of the heart (atrioventricular conduction defect).
  • Atrial tachyarrhythmia with short pr interval: An inherited heart rhythm abnormality characterized by a short PR interval and atrial tachyarrhythmia.
  • Atrioventricular Septal Defects: Defect in the wall between the atrium and ventricle.
  • Atrioventricular septal defect: A congenital heart defect where the valves and walls between the upper and lower heart chambers (atrial and ventricular septa and the atrioventricular valves) don't develop properly. Symptoms are determined by the severity of the malformation.
  • Atypical coarctation of aorta: Coarctation of the aorta is a rare inherited birth defect where the heart blood vessel called the aorta has a narrowed area which affects blood flow. The degree of constriction is variable which mild cases asymptomatic until adulthood. The poor blood flow to the lower body gives results in it appearing less developed than that upper body. The atypical form of the condition involves the abdominal aorta, the ascending aorta or the descending thoracic aorta. The disease may be a congenital anomaly, caused by arteritis or associated with conditions such as Williams syndrome and neurofibromatosis.
  • Atypical hemolytic uremic syndrome: A rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure that has no obvious cause.
  • Aughton syndrome: A very rare syndrome characterized primarily by small eyes, cleft palate, mental retardation and dextrocardia (heart located on right side of chest instead of left).
  • Ausrian triad: The association of pneumococcal pneumonia, meningitis and endocarditis.
  • Autoimmune Atherosclerosis: The formation of atherosclerosis through an autoimmune process
  • Autoimmune Myocarditis: Inflammation of the heart muscle due to the body's own immune system attacking it.
  • Autoimmune Vasculitis: A inflammation of the blood vessels caused by an autoimmune reaction
  • Avasthey syndrome: A very rare syndrome characterized by pulmonary hypertension, lymphedema and malformation of brain blood vessels.
  • Axial mesodermal dysplasia spectrum: A variable range of defects that occur during fetal development. The defect occurs at a cellular level and affects the way various parts of the body develop.
  • Baetz-Greenwalt syndrome: A rare condition where an infant is born with an underdeveloped right side of the heart which prevents the heart from pumping blood efficiently to the lungs.
  • Banti Syndrome: A rare conditions where chronic congestive spleen enlargement causes it to destroy red blood cells too early. The spleen becomes enlarged due to an obstruction of blood flow in the organ and the resulting increase in blood pressure.
  • Banti's syndrome: A rare condition where chronic congestive spleen enlargement causes it to destroy red blood cells too early. The spleen becomes enlarged due to an obstruction of blood flow in the organ and the resulting increase in blood pressure.
  • Bartschi-Rochaix syndrome: A range of symptoms caused by compression of the cerebral artery.
  • Basilar artery insufficiency: It refers to a temporary set of symptoms due to decreased blood flow in the posterior circulation of the brain.
  • Basilar artery insufficiency syndrome: A range of symptoms caused by impaired blood flow through the basilar artery. The symptoms may come and go according to variation in blood flow through the basilar artery. The blood flow may be impaired by such things as thrombosis, narrowed artery and blood vessel spasms. Symptoms vary depending on the exact location and extent of the artery involvement as well as whether the onset is gradual or sudden.
  • Beau's syndrome: A syndrome characterized by heart insufficiency and inability of the heart ventricles to completely empty of blood.
  • Beck's triad: Symptoms caused by compression of the heart.
  • Beemer-Ertbruggen syndrome: A rare lethal syndrome characterized primarily by hydrocephalus, heart malformations, and increased bone density. Only a couple of cases have been reported.
  • Behcet's Disease: Recurring inflammation of small blood vessels affecting various areas.
  • Benign angiitis of the central nervous system: A generally harmless inflammation of blood vessels that affect the central nervous system (brain and spinal cord).
  • Bernheim syndrome: Overgrowth of the left heart ventricle which results in the tissue separating the two ventricles pushing into the right ventricle. This results in obstruction of blood flow through the right heart ventricle and ultimately can lead to heart failure.
  • Bernheim's syndrome: Reduced size of right heart ventricle due to enlargement of the left ventricle which encroaches on the space in the right ventricle. Blood flow from the right atrium to the right ventricle is obstructed.
  • Bicuspid aortic valve: A heart defect where the aortic valve has only two leaflets instead of the normal three. The severity of the disorder is variable.
  • Bidirectional tachycardia: A rare form of abnormal heart rhythm. Causes includes digitalis toxicity, certain heart malformations and hyperkalemic periodic paralysis.
  • Bilateral stroke: Rapidly developing loss of brain function due to disturbance in the blood supply of the brain.
  • Bindewald-Ulmer-Muller syndrome: A rare syndrome characterized mainly by a heart defect, and mental and growth retardation.
  • Bing-Neel syndrome: A rare disorder involving infiltration of the central nervous system by abnormal leukemia-like cells (lymphoplasmocytoid cells) that occur in Waldenström's macroglobulinemia. The abnormality increases blood viscosity which impairs its circulation through small brain and eye blood vessels.
  • Binswanger's Disease: A type of senile dementia characterized by chronic cerebrovascular disease.
  • Bland-Garland-White syndrome: A rare birth malformation where the left coronary artery comes out of the pulmonary artery instead of the aorta. Usually, infants are usually healthy for a few months after which they start having symptoms of heart problems. Occasionally, patients may be asymptomatic even into adulthood but usually death occurs during infancy.
  • Bland-White -Garland syndrome: A heart disorder where the left coronary artery comes out of the pulmonary artery.
  • Blepharoptosis -- aortic anomaly: A rare disorder characterized mainly by the presence of droopy upper eyelids and an abnormal aorta.
  • Blood vessel conditions: Conditions that affect the blood vessels
  • Blue rubber bleb nevus: A very rare congenital vascular disorder characterized by multiple hemangiomas on the skin and internal organs.
  • Blue veins: Veins that are blue in colour
  • Bluefarb-Stewart syndrome: A rare disorder where blood vessel defects in a limb causes skin lesions. It most often occurs in one leg. The blood vessel defects involves abnormal connections between arteries and veins.
  • Bone cement implantation syndrome: A complication that can occur after using bone cement during implantation of an internal prosthesis. Circulation may be affected and a blockage in the pulmonary artery may develop.
  • Bone infarct: A relatively uncommon condition where some bone tissue dies due to a lack of sufficient blood supply to the affected tissue for any reason. An interruption in the blood supply can result from such things as emboli, thrombi, infection, diabetes, kidney transplant, hemophilia, increased steroid levels, immunosuppressant use and bone trauma. Often there are no symptoms unless significant areas of bone are involved and usually there are no symptoms in the early stages. Radiological tests will not necessarily reveal a bone infarct.
  • Borrone-Di Rocco-Crovato syndrome: A rare progressive syndrome characterized by skin, heart and skeletal defects. Only several reported cases of the condition.
  • Borud Syndrome: A very rare syndrome characterized by numerous features including hearing and vision problems, heart muscle disease, ataxia and peripheral neuropathy.
  • Boscherini-Galasso-Manca-Bitti syndrome: A rare syndrome characterized by a range of abnormalities including mental retardation, growth hormone deficiency, congenital heart defect and facial abnormalities.
  • Bosley-Salih-Alorainy syndrome: A rare recessively inherited disorder involving inner and outer ear deformity, eye movement disorder, deafness, cardiovascular malformations and other anomalies. The range and severity of symptoms is variable.
  • Bouillaud's syndrome: Heart inflammation caused by rheumatism. The inner lining of the heart (endocardium) as well as the membrane surrounding the heart (pericardium) become inflamed.
  • Brachydactyly -- arterial hypertension: A rare syndrome characterized by the association of hypertension with short digits. Premature death (by the fifth decade) due to stroke occurs in untreated patients.
  • Brachydactyly -- mesomelia -- mental retardation -- heart defects: A rare genetic disorder characterized by mental retardation, heart defects, short digits and short limbs.
  • Brachydactyly with hypertension: A very rare disease characterized by the association of hypertension with brachydactyly (abnormally short fingers and/or toes).
  • Brachydactyly, mesomelia, mental retardation, aortic dilation, mitral valve prolapse and characteristic face: A rare syndrome characterized by short digits, short limbs, mental retardation, aortic dilation, mitral valve prolapse and a characteristic face.
  • Bradbury-Eggleston syndrome: A syndrome mainly involving reduced blood pressure, lightheadedness or fainting on standing, dizziness and visual disturbances that is associated with a degeneration of the autonomic nerve system. It is most common in older males. Symptoms tend to be worse in the morning, after eating, after exercise or in hot weather.
  • Bradycardia: Excessively slow heart beat.
  • Brain malformation -- congenital heart disease -- postaxial polydactyly: A very rare syndrome characterized mainly by a brain defect, congenital heart disease and extra fingers.
  • Brugada Syndrome: A rare genetic disorder characterized by heart rhythm abnormalities which can result in sudden death if untreated. The condition may be inherited in some cases. The mean age of sudden death is 40 years of age.
  • Brugada syndrome 1: A rare genetic disorder characterized by heart rhythm abnormalities which can result in sudden death if untreated. Type 1 is caused by a mutation in the SCN5A gene on chromosome 3p21. Symptoms most often occur during the night and the condition is most prevalent in Japan and Southeast Asia.
  • Brugada syndrome 2: A rare genetic disorder characterized by heart rhythm abnormalities which can result in sudden death if untreated. Type 2 is caused by a mutation in the GPD1L gene on chromosome 3p22.3. Symptoms most often occur during the night and the condition is most prevalent in Japan and Southeast Asia.
  • Brugada syndrome 3: A rare genetic disorder characterized by heart rhythm abnormalities which can result in sudden death if untreated. Type 3 is caused by a mutation in the CACNA1C gene on chromosome 12p13.3. Symptoms most often occur during the night and the condition is most prevalent in Japan and Southeast Asia.
  • Brugada syndrome 4: A rare genetic disorder characterized by heart rhythm abnormalities which can result in sudden death if untreated. Type 14 is caused by a mutation in the CACNB2 gene on chromosome 10p12. Symptoms most often occur during the night and the condition is most prevalent in Japan and Southeast Asia.
  • Budd-Chiari syndrome: Budd-Chiari syndrome is the clinical picture caused by occlusion of the hepatic veins. It presents with the classical triad of abdominal pain, ascites and hepatomegaly.
  • Buerger's disease: Buergers's disease is a recurring inflammation and thrombosis (clotting) of small and medium arteries and veins of the hands and feet
  • Burn-McKeown syndrome: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
  • CATCH 22: A term used to describe a group of disorders resulting from a deletion on chromosome 22q11 and involving heart and face abnormalities, T cell deficit due to an underdeveloped thymus, cleft palate, low blood calcium due to hypothyroidism. This term tends to include disorders such as Shprintzen syndrome, velocardiofacial syndrome, DiGeorge syndrome and Takao syndrome.
  • CCF: When the heart is no longer able to pump enough blood to meet the needs of the body.
  • CHARGE Syndrome: A rare disorder characterized by choanal atresia, coloboma, ear and genital abnormalities and congenital heart defects.
  • CHILD syndrome ichthyosis: A rare genetic disorder characterized by unilateral hypomelia, underdeveloped skin and heart defects.
  • CREST syndrome: Group of symptoms usually related to systemic sclerosis
  • Cadasil: A rare inherited condition which affects the small blood vessels of the brain. Damage to the vessels causes strokes and other problems.
  • Calcific aortic disease with immunologic abnormalities, familial: A rare familial condition characterized by the abnormal calcification of the aorta and aortic valve. The calcification can narrow the aortic valve opening and hence affect blood flow. The condition also includes immunological abnormalities
  • Calciphylaxis: A rare fatal condition characterized by calcification of skin blood vessels and destruction of skin tissue. The condition is often associated with end-stage kidney disease.
  • Camera Costa Syndrome: Camera Costa syndrome refers to a reported case characterized by hand and finger malformations, hearing impairment and heart defect.
  • Capillary leak syndrome with monoclonal gammopathy: A rare condition characterized by leaky blood vessels and an increased level of certain blood proteins (monoclonal gammopathy). Monoclonal gammopathy itself does not cause any symptoms unless it develops into plasma cell leukemia. The condition may vary from mild to severe enough to cause death.
  • Capillary refill time, increased: Longer time for capillaries to refill once blood has been pushed from them by compressing the finger or toe.
  • Carbon disulfide-induced cardiovascular disease: Chronic exposure to certain chemicals can cause cardiovascular disease. For example, exposure to Carbon disulfide can lead to heart disease and carries a risk of premature death as a result. Chronic exposure to these sort of chemicals is most likely to occur in a work environment. Carbon disulfide is used mainly in viscose rayon manufacturing but is also used as a solvent and in other process. Exposure usually occurs through inhalation of vapours but skin absorption can also occur. Reported cases haf cardiovascular disease has occurred among workers exposed to carbon disulfide concentrations of 20-60 ppm.
  • Cardiac arrest: Stoppage of the heart, usually caused by heart attack
  • Cardiac compression syndrome: Symptoms caused by compression of the heart which can be caused by abnormal curvature of the spine or rib cage deformities which restrict the chest space.
  • Cardiac diverticulum: A rare congenital heart malformation involving the outpouching (diverticulum) of a ventricle which can affect heart function to varying degrees depending on the size and location of the defect.
  • Cardiac malformation: Any malformation or structural defect of the heart or it's structures. Some examples include atrioventricular septal defect, conotruncal malformations, transposition of great vessels and heart valve dysplasia. The symptoms vary in nature and severity depending on the type of malformation.
  • Cardiac tamponade: Symptoms caused by compression of the heart due to the accumulation of blood or fluid in the space between the heart muscle and the membrane covering the heart.
  • Cardiac valvular dysplasia, X-linked: An inherited (X-linked) form of heart disease involving mitral or aortic valve regurgitation. Females are carriers and hence asymptomatic whereas males displayed symptoms.
  • Cardioauditory syndrome of Sanchez- Cascos: A rare syndrome characterized mainly by heart and hearing abnormalities. The deafness was present at birth or soon after.
  • Cardiofaciocutaneous Syndrome: A rare genetic disorder characterized by short stature, congenital heart defects skin anomalies and frontal bossing.
  • Cardiomegaly: An enlarged heart from any cause.
  • Cardiomyopathy: Any disease of the heart muscle
  • Cardiomyopathy -- hearing loss, type t RNA lysine gene mutation: A rare inherited disorder characterized by heart muscle disease and deafness. The deafness is inherited from the mother and is caused by a genetic defect. Patients may be asymptomatic for a number of years. The rate of progression of the disorder is variable with some patients being asymptomatic until adulthood.
  • Cardiomyopathy -- hearing loss, type tRNA-LYS gene mutation: A rare inherited condition characterized by the association of cardiomyopathy and deafness.
  • Cardiomyopathy -- hypogonadism -- metabolic anomalies: A rare syndrome characterized mainly by heart muscle disease, hypogonadism, blindness, deafness and metabolic anomalies. Puberty was normal despite the hypogonadism.
  • Cardiomyopathy -- hypotonia -- lactic acidosis: A rare syndrome characterized by heart muscle disease, reduced muscle tone and lactic acidosis from birth.
  • Cardiomyopathy -- renal anomalies: A rare syndrome characterized by heart muscle disease and defects in the genitourinary system.
  • Cardiomyopathy -- spherocytosis: A rare disorder characterized by the association of spherocytosis with heart muscle disease. Spherocytosis is a red blood cell disorder where the red blood cells have abnormal membranes which gives them a spherical shape and makes them weak resulting in their premature death.
  • Cardiomyopathy diabetes deafness: A rare syndrome characterized by the association of heart muscle disease, diabetes and deafness.
  • Cardiomyopathy dilated 10: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the heart's ability to function normally. The disorder is caused by the degeneration of the heart's conduction system. Type 10 is caused by a defect in the ABC9 gene on chromosome 12p12.1.
  • Cardiomyopathy dilated 1B: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1B is caused by a defect on chromosome 9q13.
  • Cardiomyopathy dilated 1C: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1C is caused by a defect in the LDB3 gene on chromosome 10q21-q23.
  • Cardiomyopathy dilated 1D: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1D is caused by a defect in the cardiac troponin gene on chromosome 1q32.
  • Cardiomyopathy dilated 1E: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1E is caused by a defect in the SCN5A gene on chromosome 3p21.
  • Cardiomyopathy dilated 1G: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1G is caused by a defect in the titin gene on chromosome 2q24.3.
  • Cardiomyopathy dilated 1H: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1H is caused by a defect on chromosome 2q14-q22.
  • Cardiomyopathy dilated 1I: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1I is caused by a defect in the desmin gene on chromosome 2q35.
  • Cardiomyopathy dilated 1J: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Hearing impairment also becomes apparent by the end of the second decade. Type 1J is caused by a defect in the LDB3 gene on chromosome 6q23.
  • Cardiomyopathy dilated 1K: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1K is caused by a defect on chromosome 6q12-q16.
  • Cardiomyopathy dilated 1L: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1L is caused by a defect in the delta-sarcoglycan gene on chromosome 5q33.
  • Cardiomyopathy dilated 1M: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1M is caused by a defect in the CSRP3 gene on chromosome 11p15.1.
  • Cardiomyopathy dilated 1N: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1N is caused by a defect in the telethonin gene on chromosome 17q12.
  • Cardiomyopathy dilated 1P: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1P is caused by a defect in the phospholamban gene on chromosome 6q22.1.
  • Cardiomyopathy dilated 1Q: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1Q is caused by a defect on chromosome 7q22.3-q31.1.
  • Cardiomyopathy dilated 1R: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1R is caused by a defect in the ACTC gene on chromosome 15q14.
  • Cardiomyopathy dilated 1S: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1S is caused by a defect in the heavy chain myosin 7 gene on chromosome 14q12.
  • Cardiomyopathy dilated 1T: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1T is caused by a defect in the TMPO gene on chromosome 12q22.
  • Cardiomyopathy dilated 1U: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1U is caused by a defect in the PSEN1 gene on chromosome 14q24.3.
  • Cardiomyopathy dilated 1W: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1W is caused by a defect in the metavinculin gene on chromosome 10q22.1-q23.
  • Cardiomyopathy dilated 1Y: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the heart's conduction system. Type 1Y is caused by a genetic defect on chromosome 15q25.1.
  • Cardiomyopathy dilated 1Z: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the heart's conduction system. Type 1Z is caused by a genetic defect on chromosome 3p21.2-p14.3.
  • Cardiomyopathy dilated 2A: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 2A is caused by a defect in the TNNI3 gene on chromosome 19q13.4.
  • Cardiomyopathy dilated 3B: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 3B is caused by a defect in the dystrophin gene on chromosome Xp21.2. Males tend to be more severely affected than males with death occurring within about a year from the onset of symptoms. Symptoms in males tend to occur by the age of 21 and females tended to have an onset during their fifth decade of life with a relatively slower course of progression than in males.
  • Cardiomyopathy dilated with conduction defect: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system.
  • Cardiomyopathy dilated with conduction defect type 1: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 1 is caused by a defect in the lamin A/C gene on chromosome 1q21.
  • Cardiomyopathy dilated with conduction defect type 2: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The disorder is caused by the degeneration of the hearts conduction system. Type 2 is caused by a defect in the cardiac sodium channel gene on chromosome 3p21.
  • Cardiomyopathy due to anthracyclines: Damage to the heart muscle caused by anthracycline drugs which are used in chemotherapy. The damage occurs more frequently with higher cumulative doses. Often the patients have no symptoms of the heart damage for many year.
  • Cardiomyopathy with myopathy due to COX deficency: A rare condition where an enzyme (cytochrome c oxidase) deficiency results in muscle disease which also affects the heart.
  • Cardiomyopathy with myopathy due to COX deficiency: A respiratory chain disorder resulting in muscle and heart symptoms.
  • Cardiomyopathy, Alcoholic: A weakened heart mucle due to excessive alcohol consumption. Symptoms are usually not evident until the heart becomes severely damaged.
  • Cardiomyopathy, X-linked, fatal infantile: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally. The condition occurs during infancy and results in death.
  • Cardiomyopathy, dilated, with Woolly hair and keratoderma: A rare syndrome characterized by heart muscle disease involving dilation of the heart ventricles, woolly hair and thickened skin on the palms and soles.
  • Cardiomyopathy, familial dilated: An inherited form of heart muscle disease where the heart ventricles become dilated which affects the hearts ability to function normally.
  • Cardiomyopathy, fatal fetal, due to myocardial calcification: A rare syndrome characterized by heart muscle disease caused by calcium deposits in the heart muscle. The disorder causes fetal death.
  • Cardiomyopathy, hypogonadism, collagenoma syndrome: A rare inherited condition characterized primarily by skin nodules. The skin nodules may be associated with organ system involvement resulting in a variety of other symptoms.
  • Cardiomyopathy, infantile histiocytoid: A rare form of heart muscle disease that occurs during infancy and is caused by the presence of abnormal cells in the heart muscle.
  • Cardiotoxicity -- Allylamine: Exposure to Allylamines can have a toxic effect on the heart and may result in degenerative changes in the heart. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Ammonia: Exposure to Ammonia can have a toxic effect on the heart and may result in pulmonary edema. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Aromatic hydrocarbons: Exposure to Aromatic hydrocarbons can have a toxic effect on the heart and may result in degenerative changes in the heart. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Arsenic: Exposure to Arsenic can have a toxic effect on the heart and may result in constriction of blood vessels. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Arsine: Exposure to Arsine can have a toxic effect on the heart and may result in abnormal heart rhythm. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Carbon Disulfide: Exposure to Carbon Disulfide can have a toxic effect on the heart and may result in degenerative changes in the heart. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Carbon Monoxide: Exposure to Carbon Monoxide can have a toxic effect on the heart and may result in degenerative changes in the heart. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Certain Tricyclic Antidepressants: Exposure to certain tricyclic antidepressants can have a toxic effect on the heart and may result in abnormal heart rhythm. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Ergot alkaloids: Exposure to Ergot alkaloids can have a toxic effect on the heart and may result in constriction of blood vessels. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Ethanol: Exposure to Cobalt can have a toxic effect on the heart and may result in cardiomyopathy. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Fluorocarbons: Exposure to Fluorocarbons can have a toxic effect on the heart and may result in abnormal heart rhythm. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Halogenated Hydrocarbons: Exposure to halogenated hydrocarbons can have a toxic effect on the heart and may result in abnormal heart rhythm. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Hydrogen Chloride: Exposure to Hydrogen Chloride can have a toxic effect on the heart and may result in pulmonary edema. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Nitrogen Dioxide: Exposure to Nitrogen Dioxide can have a toxic effect on the heart and may result in pulmonary edema. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Organophosphates: Exposure to Organophosphates can have a toxic effect on the heart and may result in abnormal heart rhythm. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Ozone: Exposure to Ozone can have a toxic effect on the heart and may result in pulmonary edema. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Propylene Glycol: Exposure to Propylene Glycol can have a toxic effect on the heart and may result in abnormal heart rhythm. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Thorium Dioxide: Exposure to Thorium Dioxide can have a toxic effect on the heart and may result in blood vessel tumors. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiotoxicity -- Vinyl Chloride: Exposure to Vinyl Chloride can have a toxic effect on the heart and may result in blood vessel tumors. The degree of toxicity may be influenced the duration and level of exposure to the chemical.
  • Cardiovascular Disease: Diseases of the heart or blood vessels including cerebrovascular diseases such as stroke.
  • Carotid Paraganglioma: A rare, usually benign tumor found in the carotid artery in the neck. The tumor develops from glomus cells which are located along blood vessels involved in automatic body activities such as regulation of blood pressure and blood flow.
  • Carotid bruits: Carotid bruit is a noise caused by turbulent blood flow in the carotid artery.
  • Cast syndrome: Obstruction of the third part of the duodenum by an artery following the use of a body plaster cast or a Bradford frame.
  • Cataract and cardiomyopathy: A rare syndrome characterized by the association of congenital cataracts, heart muscle disease, lactic acidosis and skeletal muscle disease. The disorder involves the abnormal storage of lipids and glycogen in the skeletal and heart muscles. The cataracts progress rapidly and require surgery. The severity of the disorder ranges from stillbirth to survival into the fourth decade.
  • Catecholamine hypertension: High blood pressure caused by catecholamines (epinephrine and norepinephine) which is produced by the body especially in times of stress. Adrenal tumors that secrete catecholamines can also increase blood pressure as can medications containing catecholamines.
  • Caterpillar-induced bleeding syndrome: Caterpillars from the Lonomia genus have spines along their body which can penetrate human skin and cause blood coagulation problems. The severity of the symptoms vary depending on the degree of envenomation but serious cases can result in death.
  • Caterpillar-induced bleeding syndrome -- Lonomia achelous: Lonomia achelous caterpillars are native to Northern Brazil and Venezuela. They have spines along their body which can penetrate human skin and cause blood coagulation problems. The severity of the symptoms vary depending on the degree of envenomation but serious cases can result in death.
  • Caterpillar-induced bleeding syndrome -- Lonomia obliqua: Lonomia obliqua caterpillars are native to Southern Brazil and have spines along their body which can penetrate human skin and cause blood coagulation problems. The severity of the symptoms vary depending on the degree of envenomation but serious cases can result in death.
  • Cavernous hemangioma: A harmless proliferation of blood vessels which form a tumor-like mass of blood filled spaces which can occur anywhere in the body and is present at birth or develops soon after. It occurs in deeper layers of the skin as opposed to the top skin layers and the color may vary according to the depth of the lesion.
  • Cayler syndrome: A very rare disorder involving heart defects and abnormalities involving the lower lip muscle.
  • Celiac artery stenosis from compression by median arcuate ligament of diaphragm: A rare birth defect where a ligament (median arcuate) is located too low and compresses an artery (celiac artery). When the artery is compressed, blood flow is affected and abdominal pain and other symptoms may occur. The disorder is most common in thin females. Many people may have the anomaly but only in some cases is the compression severe enough to cause symptoms.
  • Cerebral Aneurysm: Dangerous swelling of a brain blood vessel that may rupture.
  • Cerebral Arteriosclerosis: Hardening or blockage of arteries in the brain.
  • Cerebral Autosomal Recessive Arteriopathy with Subcortical Infarcts and Leukoencephalopathy: A rare inherited condition characterized primarily by progressive degeneration of the brain white matter and disease of the brain blood vessels as well as additional symptoms not involving the brain e.g. thin skin, alopecia and spinal disc disease.
  • Cerebral cavernous malformations: A rare disorder where a group of small abnormal blood vessels in the brain. These blood vessels become enlarged, irregularly shaped and thin walled. They swell when filled with blood and are then often unable to return to their original shape and the thin walls means that they can leak blood and cause bleeding in the brain. Severity of symptoms depends on the number and location of the lesions.
  • Cerebral hemorrhage: Bleeding in the brain
  • Cerebral hemorrhage with amyloidosis, hereditary, Dutch type: An inherited condition characterized mainly by brain hemorrhage and amyloid deposits in the brain blood vessels. The size and location of the hemorrhage determines the severity of symptoms. The condition was first described in a Dutch family.
  • Cerebrovascular Conditions: Conditions of the brain's blood vessels including stroke.
  • Cerebrovascular accident: Occurs when the blood supply to the brain is interrupted and results in cell injury and death.
  • Chagas Cardiomyopathy: Heart disease that can occur as a complication of a chronic parasitic infection caused by the protozoa Trypanosoma cruzi and transmitted by insect bites or blood transfusions.
  • Chaotic atrial tachycardia: Abnormal irregular, rapid heart beat that originates in the atrial heart chamber of the heart and occurs in infants and young children. The heart has periods of normal rhythm between the periods of irregularity. The condition occurs in infants and young children but may also occur in adults who have disorders such as chronic obstructive pulmonary disease.
  • Char syndrome: A very rare genetic disorder characterized mainly by an unusual facial appearance, abnormal little fingers and a heart abnormality.
  • Chemical-induced cardiovascular disease: Chronic exposure to certain chemicals can cause cardiovascular disease. For example, exposure to Carbon disulfide can lead to heart disease and carries a risk of premature death as a result. Chronic exposure to these sort of chemicals is most likely to occur in a work environment.
  • Choanal atresia -- deafness -- cardiac defects -- dysmorphism: A rare genetic disorder characterized by choanal atresia (narrowing or blockage of nasal airway), deafness, heart defects and eye, ear and facial anomalies.
  • Chondroectodermal dysplasia: A rare genetic disorder characterized by dwarfism, extra fingers and/or toes and nail and hair abnormalities.
  • Chromosome 22q11 Deletion Spectrum: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • Chromosome 22q11 deletion: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • Chromosome 22q11.2 deletion syndrome: A rare genetic disorder caused by the absence of a small portion of genetic material. A small section of chromosome 22 is missing at a location called q11.2. Chromosome 22 is one of 23 pairs of chromosomes that exist in humans.
  • Chronic constrictive pericarditis:
  • Chronic necrotizing vasculitis: Inflammation and destruction of blood vessel walls which leads to death of associated tissue. Symptoms are determined by the extent and location of the blood vessel inflammation. The inflammation possibly has autoimmune origins. It can occur in condition such as rheumatoid arthritis, systemic lupus erythematosus and scleroderma.
  • Chronic orthostatic hypotension: An excessive drop in blood pressure when the patient stands up causing light-headedness or dizziness.
  • Churg-Strauss Syndrome: A condition characterized by blood vessel inflammation that occurs throughout the body.
  • Circulatory disorder: Disease affecting circulation of blood
  • Cirrhotic cardiomyopathy: Cirrhotic cardiomyopathy refers to heart problems associated with liver cirrhosis. Often the condition is asymptomatic but stresses on the body such as infection, surgery or organ transplant can exacerbate the condition.
  • Claudication pain: Pain that occurs in the legs when walking or exercising. It is usually the result of circulation problems which affects the flow of blood to the leg muscles. In severe cases, the pain may persist even when the patient is inactive.
  • Cleft palate -- heart disease -- polydactyly -- absent tibia: A rare syndrome characterized by a cleft palate, heart disease, extra digits and an absent shin bone.
  • Coarctation of aorta autosomal dominant: A dominantly inherited heart defect called coarctation of the aorta. It involves an abnormal narrowing of part of the aorta which can cause symptoms such as hypertension. The severity of symptoms is variable depending on the exact location and degree of aortic narrowing.
  • Coarctation of aorta dominant: A rare inherited birth defect where the heart blood vessel called the aorta has a narrowed area which affects blood flow. The degree of constriction is variable which mild cases asymptomatic until adulthood. The poor blood flow to the lower body gives results in it appearing less developed than that upper body.
  • Coats Disease: A rare condition where a small group of dilated blood vessels (telangiectasia) form in the retina of one eye and can result in retinal detachment. It is believed to be a more severe form of Leber military aneurysm.
  • Cocaine-induced hypertension: Cocaine-induced hypertension is high blood pressure caused by use of cocaine. Patients with an existing history of hypertension may suffer further blood pressure increases while taking cocaine and this can be serious. Severity of symptoms varies amongst patients depending on their susceptibility, underlying health and duration of cocaine use.
  • Coffin syndrome 1: A rare inherited syndrome characterized mainly by spasticity, seizures, congenital heart defects, short stature and delayed mental and motor development.
  • Colobomata unilobar lung heart defect: A very rare condition characterized by the association of a single lobed lung, heart defect and colobomata.
  • Colobomatous microphthalmia -- heart disease -- hearing loss: A very rare syndrome characterized by small eyes, heart disease and hearing loss.
  • Colver-Steer-Godman syndrome: A very rare syndrome characterized mainly by a rigid spine and heart muscle disease.
  • Common ventricle: A congenital heart defect where the wall separating the two heart ventricles is completely missing.
  • Compartment Syndrome: Excessive bleeding or swelling following surgery or injury can result in increased pressure within a section of the arms, legs or buttocks. The increased pressure affects blood flow and can result in tissue death necessitating amputation, nerve damage or muscle damage. The condition can be chronic or acute which is a medical emergency.
  • Complete atrioventricular canal: A rare form of congenital heart disease where the there is a hole in the heart wall that separates the upper heart chambers, a hole the heart wall that separates the lower heart chambers and heart valve abnormalities (tricuspid and mitral valves). This results in excessive blood circulation in the lungs leading to congestive heart failure in untreated cases.
  • Congenital Lipomatous Overgrowth, Vascular Malformations and Epidermal Nevi: A rare syndrome characterized by overgrowth of fatty tissue, blood vessel malformations and skin birth marks. The condition is a progressive one and there have been less than 20 reported cases.
  • Congenital Lipomatous Overgrowth, Vascular Malformations, Epidermal Nevi, and Skeletal/Spinal abnormalities: A rare syndrome characterized by overgrowth of fatty tissue, blood vessel malformations, birth marks and skeletal and spinal abnormalities. The condition is a progressive one and there have been less than 20 reported cases.
  • Congenital aneurysms of the great vessels: A bulge in one of the main blood vessels in the body - pulmonary artery, pulmonary veins, vena cava and aorta. The condition is generally asymptomatic unless the aneurysm becomes very large or bursts which can result in rapid death depending on the location of the aneurysm.
  • Congenital arteriovenous shunt: A rare birth defect involving the abnormal passage of blood between arteries and veins. The range and severity of symptoms is determined by the number, size and location of the arteries and veins involved.
  • Congenital cardiovascular malformations: The abnormal development of heart blood vessels. Specific examples of this condition includes hypoplastic left heart syndrome, coarctation and tricuspid atresia.
  • Congenital heart block: A rare congenital heart disease where a slowed heart rate is caused by defects in the heart conduction system. The condition is usually asymptomatic and harmless but in severe cases (complete AV block) various symptoms and sudden death may occur.
  • Congenital heart defects: Heart defects that a baby is born with.
  • Congenital heart disease -- radio ulnar synostosis -- mental retardation: A very rare syndrome characterized mainly by heart disease at birth, fusion of forearm bones and mental retardation.
  • Congenital heart disease radio ulnar synostos mental retardation: A very rare syndrome characterized mainly by the presence of mental retardation, congenital heart disease and fusion of the forearm bones.
  • Congenital heart disease, ptosis, hypodontia, craniosynostosis: A rare birth syndrome characterized by heart disease, droopy eyelids, missing teeth and premature fusion of skull bones.
  • Congenital heart septum defect: A heart defect involving the septum which is present at birth. The defect is a hole in the wall of the heart that separates the right and left chambers and allows blood to flow through the hole. An atrial septal defect is a hole between the two upper heart chambers and a ventricular septal defect is a hole between the two lower heart chambers. Symptoms are determined by the size and exact location of the defect.
  • Congenital mitral malformation: Malformations of the mitral valve that are present at birth. The mitral valve allows blood to flow between the two chambers on the left side of the heart. Types of mitral malformation are atresia (absent mitral valve), stenosis (narrowed mitral valve) and parachute mitral valve.
  • Congenital mitral stenosis: A heart malformation that is present at birth. The mitral valve is narrower than normal which affects blood flow between the upper and lower chambers on the left side of the heart. It usually occurs in conjunction with other malformations
  • Congestive Heart Failure: Inadequate pumping and decline of heart function common in the elderly.
  • Congestive cardiac failure: A condition characterized by breathlessness and abnormal sodium and water retention.
  • Conn Syndrome-induced hypertension: Conn Syndrome-induced hypertension is high blood pressure associated with Conn Syndrome. It results from excessive production of a hormone called aldosterone by the adrenal glands. The high blood pressure often responds poorly to the usual medications. Death can result in severe cases.
  • Conotruncal heart malformations: A rare group of heart defect involving the outflow tracts. Examples include truncus arteriosus, transposition of great arteries and tetralogy of Fallot. Obviously the symptoms will be determined by which specific defect is involved.
  • Cor Triatriatum: A rare congenital malformation where the heart has three atria instead of the normal two due to the presence of a separating membrane.
  • Cor biloculare: A rare birth defect where the heart has two chambers instead of the normal four. The severity of the condition is variable with some cases being asymptomatic during infancy and survival has occurred for several decades in some cases. The defect rarely occurs on its own and is usually associated with various other malformations such as inverted abdominal organ positions.
  • Corneal anesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Corneal anesthesia deafness mental retardation: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Corneal hypesthesia deafness intellectual deficit: A very rare genetic disorder characterized distinctive facial features, ductus arteriosus, mental retardation and vision problems.
  • Cornel syndrome: A very rare disorder observed in only a few families. The condition is characterized by deafness, heart problems and droopy eyelids
  • Coronaro-cardiac fistula: An abnormal opening between a heart artery and a heart chamber or great vessel. This rare defect is present at birth and often causes no problems or symptoms until adulthood. The severity of the condition is determined by the size and exact location of the defect.
  • Coronary arteries -- congenital malformation: Abnormal coronary arteries present at birth. The coronary artery may be misplaced or deformed and the severity of the defect will determine the type and seriousness of symptoms. Some malformations produce no clinical symptoms whereas others are life-threatening without prompt treatment.
  • Coronary artery aneurysm: Abnormal dilation or swelling of a heart artery. The dilated portion is weakened and can burst.
  • Coronary artery disease, autosomal dominant 1: An increased risk of coronary artery disease is associate with a dominantly inherited defect on the MEF2A gene on chromosome 15q26.
  • Coronary artery disease, autosomal dominant 2: An increased risk of coronary artery disease is associate with a dominantly inherited defect on the LPR6 gene on chromosome 12p113.3-p11.2.
  • Coronary heart disease: Disease affecting the heart's arteries (narrowed arteries)
  • Coronary heart disease, susceptibility to, 1: An increased risk of coronary heart disease is linked to genetic defects in some cases. Type 1 is linked to a defect on chromosome 16pter-p13.
  • Coronary heart disease, susceptibility to, 2: An increased risk of coronary heart disease is linked to genetic defects in some cases. Type 2 is linked to a defect on chromosome 2q21.1-q22.
  • Coronary heart disease, susceptibility to, 3: An increased risk of coronary heart disease is linked to genetic defects in some cases. Type 3 is linked to a defect on chromosome Xq23-q26.
  • Coronary heart disease, susceptibility to, 4: An increased risk of coronary heart disease is linked to genetic defects in some cases. Type 4 is linked to a defect on chromosome 14q32.
  • Coronary heart disease, susceptibility to, 5: An increased risk of coronary heart disease is linked to genetic defects in some cases. Type 5 is linked to a defect on chromosome 3q13.
  • Coronary heart disease, susceptibility to, 6: An increased risk of coronary heart disease is linked to genetic defects in some cases. Type 6 is linked to a defect on chromosome 11q23.
  • Coronary heart disease, susceptibility to, 7: An increased risk of coronary heart disease is linked to genetic defects in some cases. Type 7 is linked to a defect on chromosome 7q11.2.
  • Coronary heart disease, susceptibility to, 8: An increased risk of coronary heart disease is linked to genetic defects in some cases. Type 8 is linked to a defect on chromosome 9p21.
  • Coronary heart disease, susceptibility to, 9: An increased risk of coronary heart disease is linked to genetic defects in some cases. Type 9 is linked to a defect on chromosome 8p22.
  • Corticosteroid-induced hypertension: Corticosteroid-induced hypertension is high blood pressure caused by use of corticosteroids. Patients with an existing history of hypertension may suffer further blood pressure increases while taking corticosteroids. Severity of symptoms varies amongst patients depending on their susceptibility, underlying health and duration of corticosteroid therapy.
  • Cote-Katsantoni syndrome: A rare condition characterized by osteosclerosis, atrial septal defect, malabsorption, neutropenia, ectodermal dysplasia, growth retardation and mental retardation.
  • Cranio-facio-cardio-skeletal dysplasia: A rare syndrome characterized by mental retardation, short stature, large skull, heart anomaly and facial and skeletal abnormalities.
  • Cranioacrofacial syndrome: A very rare syndrome characterized mainly by heart, hand, facial and skull anomalies.
  • Craniostenosis with congenital heart disease mental retardation: A very rare disorder characterized mainly by premature fusion of the sagittal skull bones, mental retardation and heart disease that is present at birth. The disorder generally involves other variable features.
  • Craniosynostosis -- congenital heart disease -- mental retardation: A rare syndrome characterized mainly by heart and skull abnormalities as well as mental retardation.
  • Cushing's syndrome-induced hypertension: Cushing's syndrome-induced hypertension is high blood pressure caused by a condition caused Cushing's syndrome where the adrenal glands produce excessive amounts of cortisol.
  • Cutaneomeningospinal angiomatosis: A rare inherited disorder involving a skin birthmark as well as a blood vessel malformation in the spinal cord (angioma). The severity of the spinal involvement is variable with neurological problems occurring as a result of compression of the spinal cord or bleeding. Other cases may be undiagnosed as the cause no symptoms.
  • Cutaneous necrotizing vasculitis: Inflammation and damage of the blood vessel walls that also affects the skin. The condition may occur on its own or as a result of an underlying condition.
  • Cutaneous vascularitis: Inflammation of blood vessels in the skin which can have any of a variety of causes such as infections or drugs.
  • Cutis Marmorata Telangiectatica Congenita: A rare birth disorder where dilated blood vessels on the skin's surface caused discolored patches of skin that has a marbled appearance.
  • Cyanosis: Blueness or purple coloring of skin.
  • Cyclosporine-induced hypertension: Cyclosporine-induced hypertension is high blood pressure caused by taking cyclosporine. Patients with an existing history of hypertension may suffer further blood pressure increases while taking amphetamines and this can be serious. Severity of symptoms varies amongst patients depending on their susceptibility, underlying health and duration of cyclosporine use.
  • Cystic medial necrosis of aorta:
  • D ercole syndrome: A very rare syndrome characterized mainly by short stature, small head and heart defects.
  • D-minus hemolytic uremic syndrome (D-HUS) -- familial: A rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure. The familial type is not associated with diarrhea and is inherited. Autosomal recessive cases usually start early in life whereas autosomal dominant cases can occur at any age.
  • D-minus hemolytic uremic syndrome (D-HUS) -- pregnancy related: A rare condition characterized by hemolytic anemia, thrombocytopenia and kidney failure. This type is not associated with diarrhea and is triggered by pregnancy.
  • D-plus hemolytic uremic syndrome (D+HUS): A rare condition where gastroenteritis involving bloody diarrhea is caused by a bacteria (usually E.Coli) which leads to toxins being present in the blood. These circulating toxins affect red blood cells, kidneys and occasionally even the brain.
  • Da Costa syndrome: Cardiovascular symptoms caused by physical or emotional stress but may also be caused by conditions such as mitral valve prolapse and autonomic hyperactivity. The syndrome is often seen in soldiers during times of stress or in young adults who suffer emotional stress.
  • Dahlberg syndrome: A rare condition characterized by hypoparathyroidism, nephropathy, congenital lymphedema, mitral valve prolapse and short end bones in fingers and toes.
  • Dandy-Walker -- facial hemangioma: A very rare syndrome characterized mainly by a brain malformation (Dandy-Walker) and a hemangioma on the face (mass of dilated blood vessels).
  • Deafness peripheral -- neuropathy -- arterial disease: A very rare syndrome characterized mainly by artery disease, deafness and peripheral neuropathy.
  • Decreased cardiac output: descreased amount of blood pumped by the heart
  • Decreased cerebral perfusion: compromised blood supply to the brain
  • Decreased vascularity: A medical term for the reduced visibility of blood vessels through the skin. This can be signal problems such as very low blood pressure, low blood sugar, acidosis and mitochondrial disease.
  • Deep vein thrombosis: Blood clot in vein, often in calf muscle vein in the leg.
  • Degos Disease: A rare disorder where lesions caused by blood vessel inflammation and blockage form on the skin and eventually in the internal organs, especially in the small intestine.
  • Dejerine-Roussy syndrome: A rare neurological condition where damage to the part of the brain that controls sensation (thalamus) is damaged causing excessive pain in response to mild stimulation or reduced sensation.
  • Deletion 22q11: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
  • Dermato-cardio-skeletal syndrome Borrone type: A rare progressive syndrome characterized by skin, heart and skeletal abnormalities.
  • Dermatocardioskeletal syndrome, Boronne type: A very rare syndrome characterized mainly by thick skin, thick gums, acne, short fingers and a heart defect.
  • Dexamethasone sensitive hypertension: A very rare inherited genetic involving excessive aldosterone levels which usually causes high blood pressure. The severity of the disorder is greatly variable.
  • Dextrocardia: A rare anomaly where the heart is located on the right side of the chest instead of the normal left side of the chest. The condition is generally asymptomatic but is often associated with other abnormalities such as inverted location of other abdominal organs.
  • Dextrocardia with situs inversus: The heart is located on the right side of the body and the position of the heart chambers and abdominal organs are reversed.
  • DiGeorge syndrome: 22q11.2 deletion syndrome is a genetic disorder which can result in a vast array of symptoms. Various names have been used to describe different manifestations of the syndrome. Di George Syndrome primarily involves an underdeveloped thymus and parathyroid glands which results in lowered immunity low blood calcium levels respectively. Another primary feature is heart defects. Various other variable features are also present. It is not uncommon for patients to have more than one of the 22q11.2 deletion syndrome subtypes which can make diagnosis confusing - other subtypes include Sphrintzen syndrome, Caylor cardiofacial syndrome and CATCH 22.
  • DiGeorge's syndrome: Rare form of primary immune deficiency
  • Dieterich's disease: A rare disorder involving destruction of the head of the metacarpal bone due to an interrupted blood supply to the bone. The metacarpal bone is the hand bone that attaches to the finger bones. The disorder is often associated with trauma, steroid use or systemic lupus erythematosus.
  • Diffuse neonatal hemangiomatosis: A very rare syndrome characterized mainly by multiple capillary hemangiomas as well as other abnormalities.
  • Dilated cardiomyopathy: A rare chronic heart muscle condition where one or both heart ventricles are dilated or have impaired contractility.
  • Discontinuation syndrome: Symptoms that can occur when a person suddenly stops taking their high blood pressure medication.
  • Distichiasis -- heart and vasculature anomalies: A rare birth syndrome characterized by heart and blood vessel abnormalities as well as the growth of an extra row of eyelashes.
  • Distichiasis with Congenital Anomalies of the heart and Peripheral Vasculature: A very rare condition characterized by congenital heart defects, a double row of eyelashes (distichiasis) and peripheral blood vessel anomalies.
  • Double outlet -- left ventricle: A very rare birth defect where the aorta and the pulmonary artery both exit from the left ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs.
  • Double outlet -- right ventricle I: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. In the type I the hole is located just below the aorta and there is no narrowing of the pulmonary valve.
  • Double outlet -- right ventricle II: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. In the type II the hole is located in the infracristal area and there is no narrowing of the pulmonary valve.
  • Double outlet -- right ventricle IV: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. In the type VI the hole is located just below the aorta and there is a narrowing of the pulmonary valve.
  • Double outlet right ventricle: A very rare birth defect where the aorta and the pulmonary artery both exit from the right ventricle and thus blood is unable to be pumped to the lungs. However, a hole connects the two ventricles and ultimately allows some blood flow to the lungs. The severity of symptoms varies depending on the location of the connecting hole in the heart and the exact location of the two arteries with respect to the heart.
  • Double tachycardia induced by catecholamines: Rapid heart rhythm (atrial and ventricular) caused by catecholamines (a chemical involved with hormones and neurotransmission).
  • Doxorubicin-induced cardiomyopathy: Heart disease caused by the use of a cancer drug called Doxorubicin.
  • Dressler syndrome: A group of symptoms that can occur days, weeks or months after a heart attack or heart surgery. The symptoms may be due to such things as autoimmune processes, virus or bleeding around the heart which can result in inflammation of the membrane surrounding the heart.
  • Drop attacks as seen in stroke: Sudden spontaneous falls while standing or walking, with complete recovery in seconds or minutes.
  • Drug-induced hypertension: Drug-induced hypertension is high blood pressure caused by taking certain drugs or medications e.g. corticosteroids, cyclosporine, amphetamines, alcohol and estrogens.
  • Ductus arteriosus, patent reversed flow: A rare birth defect. During the fetal stage, a connecting tube (ductus arteriosus) joins the pulmonary artery and aorta and hence prevents blood from flowing past the fluid filled lungs. After birth, the tube normally closes off so that the blood can be sent to the lungs to be oxygenated. Patent ductus arteriosus is where the connecting tube fails to close and hence the blood can't be oxygenated properly. In the patent reversed flow form of the condition, blood flow is reversed between the pulmonary and aorta opening and results in a reduced pulmonary flow.
  • Duodenal atresia tetralogy of Fallot: A rare birth defect characterized by a heart defect and an intestinal malformation where the duodenum is absent or closed off which prevents digested material passing through.
  • Duodenojejunal atresia with volvulus, absent dorsal mesentery and absent superior mesenteric artery: A rare gastrointestinal malformation syndrome.
  • Dursun Syndrome: A rare syndrome characterized mainly by the association of heart anomalies, pulmonary hypertension and leukopenia (reduced number of white blood cells).
  • Eales Disease: A rare eye disorder characterized by sudden vision loss, problems with eye blood vessuls and reoccurring eye blood vessel hemorrhages as well as oozing of clear thick fluid from inside the eyeball. Usually occurs after a stressful situation, trauma or after waking up.
  • Ebstein's anomaly: A congenital heart defect where the tricuspid valve is deformed. The tricuspid valve in the heart normally has three flaps that control blood flow but in Ebstein's anomaly, one of the flaps remains open instead of closing and allows blood to leak through.
  • Eclampsia: Eclampsia is the development of seizures or coma in pregnant women suffering from high blood pressure. Eclampsia is a serious condition which requires urgent medical treatment. Eclampsia may be associated with moderate as well as significant increases in blood pressure. The blood pressure can return to normal after delivery or may persist for a period of time.
  • Ehlers Danlos syndrome type 4, autosomal dominant: A rare genetic connective tissue disorder characterized by delicate skin, fragile blood vessels, distinctive facial features and minimal joint problems - previously known as EDS type 4.
  • Ehlers-Danlos Syndrome, Dysfibronectinemic type: A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae).
  • Ehlers-Danlos syndrome: A group of inherited connective tissue disorders primarily involving the joints and skin. There are 11 disorders in the group.
  • Ehlers-Danlos syndrome Type I: A rare genetic connective tissue disorder characterized by hyperextensible joints, hyperextensible skin and poor wound healing.
  • Ehlers-Danlos syndrome type 3: A rare genetic connective tissue disorder characterized by lax joints, hyperextensible skin and mild connective tissue fragility - a mild form of the condition.
  • Ehlers-Danlos syndrome type 4: A rare genetic connective tissue disorder characterized by small joint hypermobility, easy bruising and characteristic facial appearance - a vascular or ecchymotic form of the condition.
  • Ehlers-Danlos syndrome type II: A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and poor wound healing - a milder form of Type 1 with hypermobility limited to hands and feet.
  • Ehlers-Danlos syndrome type III: A rare genetic connective tissue disorder characterized by lax joints, hyperextensible skin and mild connective tissue fragility - a mild form of the condition.
  • Ehlers-Danlos syndrome type IV: A rare genetic connective tissue disorder characterized by small joint hypermobility, easy bruising and characteristic facial appearance - a vascular or ecchymotic form of the condition.
  • Ehlers-Danlos syndrome type IX: A rare genetic connective tissue disorder involving a defective copper metabolism and characterized by mildly hyperextensible skin, lax joints, bladder problems and chronic diarrhea.
  • Ehlers-Danlos syndrome type VII: A rare genetic connective tissue disorder characterized by hypermobile joints, hyperextensible skin and joint dislocations.
  • Ehlers-Danlos syndrome type X: A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae).
  • Ehlers-Danlos syndrome with Platelet Dysfunction from Fibronectin Abnormality: A very rare collagen disorder which is characterized by loose joints and hyperextensible skin as well as a blood platelet anomaly which causes bleeding into the skin (petechiae).
  • Ehlers-Danlos syndrome with periventricular heterotopia: The association of a brain malformation (periventricular nodular heterotopia) with a connective tissue disorder called Ehlers-Danlos syndrome.
  • Ehlers-Danlos syndrome, 6B: A rare genetic connective tissue disorder characterized by lax joints, scoliosis and fragile sclera of the eye - Ehlers Danlos type with predominant ocular abnormalities but lysyl-hydroxylase activity is normal1.
  • Ehlers-Danlos syndrome, VIIB: A rare genetic connective tissue disorder characterized by hyperextensible and fragile skin and hypermobile joints which leads to dislocations, osteoarthritis and fractures. Type 7B is milder than type 7A and is caused by a defect on the COL1A2 gene.
  • Ehlers-Danlos syndrome, cardiac valvular form: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility.
  • Ehlers-Danlos syndrome, classic type: A rare genetic connective tissue disorder characterized by hypermobile joints, joint dislocations and skin hyperextensibility and fragility - a combination of ED types I and II.
  • Ehlers-Danlos syndrome, dermatospraxis type: A rare genetic connective tissue disorder characterized by skin hyperextensibility hypermobile joints and fragile skin which loses its elasticity - previously known as EDS type 7C.
  • Ehlers-Danlos syndrome, kyphoscoliosis type: A rare genetic connective tissue disorder caused by deficiency of the lysyl hydroxylase enzyme and is characterized by progressive scoliosis and muscle weakness and fragile sclera - previously known as EDS type 6.
  • Ehlers-Danlos syndrome, progeroid form: A connective tissue disorder caused by an enzyme (xylosylprotein 4-beta-galactosyl transferase) deficiency.
  • Ehlers-Danlos syndrome, progeroid form 2: A rare genetic connective tissue disorder characterized by hypermobile joints, fragile skin, mental retardation and short stature.
  • Ehlers-Danlos syndrome, vascular type: A rare genetic connective tissue disorder characterized by delicate skin, fragile blood vessels, distinctive facial features and minimal joint problems - previously known as EDS type 4.
  • Eisenmenger Syndrome: Increased lung blood pressure that can result from conditions such as a hole in the wall between the two heart chambers.
  • Ellis-Yale-Winter syndrome: A rare condition characterized by the association of a small head, congenital heart disease, lung segmentation defects and a missing kidney.
  • Ellis-van Creveld syndrome:
  • Embolism: Blockage of an artery or blood vessel
  • Endocardial fibroelastosis: A rare heart disorder characterized by a thickening of the heart muscle lining causing heart enlargement and heart failure.
  • Endocarditis: Inflammation of the inner lining of the heart
  • Endomyocardial fibroelastosis: A rare heart malformation involving an abnormal thickening of the part of the heart muscle called the endocardium which affects the heart's function. Death is common in infancy and during early childhood.
  • Endomyocardial fibrosis: Heart disease characterized by progressive fibrosis of the lining of one or both lower heart cavities. This results in constriction of the heart cavity and may involve the heart valves and other structures.
  • Environment associated hypertension: High blood pressure caused by environmental factors such as poor diet, stress and lack of exercise.
  • Epilepsy -- telangiectasia: A rare syndrome characterized by the association of epilepsy with telangiectasias on the conjunctiva of the eyelids.
  • Erythropoietin-induced hypertension: Erythropoietin-induced hypertension is high blood pressure caused by taking erythropoietin which is sometimes used to treat anemia in conditions such as chornic kidney failure. Patients with an existing history of hypertension may suffer further blood pressure increases while taking amphetamines and this can be serious. Severity of symptoms varies amongst patients depending on their susceptibility, underlying health and duration of erythropoietin use.
  • Esophageal varices: Abnormally dilated blood vessels in the wall of the esophagus. The condition is asymptomatic unless the blood vessel bursts which can result in death.
  • Essential thrombocytopenia: A rare blood disorder characterized by an excessively low number of platelets in the blood which often results in hemorrhages.
  • Essential thrombocytosis -- same as essential thrombocythemia: A rare blood disorder where the blood contains too many platelets due to excessive megakaryocytes (platelet-producing cells). Platelets are essential for blood clotting but in essential thrombocythemia excessive platelets can cause the blood to form abnormal clots. If the platelets are defective as well then bleeding problems can occur. The severity of the condition is variable.
  • Exercise-induced hypertension: Exercise-induced hypertension is high blood pressure caused by exercise. Studies indicate that people with this condition have a significant risk of developing vascular disease. An increase in blood pressure of more than 60 mmHg during exercise usually indicates exercise-induced hypertension.
  • Extradural hematoma: Bleeding in the skull outside the brain
  • Faciocardiorenal syndrome: A rare syndrome characterized by a variety of abnormalities such as kidney anomaly, mental retardation, unusual facial features, heart problems and joint problems. Infant death or stillbirth may occur in some cases.
  • Fallot syndrome: A congenital heart disorder consisting of four heart defects - hole between the ventricles (ventricular septal defect), obstruction from right ventricles to the lungs (subpulmonary stenosis), overriding aorta and thickened right ventricle muscle.
  • Familial Tetralogy of Fallot and Glaucoma: A condition observed in one family and characterized by a congenital heart defect and congenital glaucoma.
  • Familial atrial fibrillation: A rare inherited condition where abnormal electrical activity in the heart causes it to have a fast and irregular beat. The condition may go unnoticed or may cause stroke or sudden death in some cases.
  • Familial dilated cardiomyopathy: A rare inherited heart muscle condition where one or both heart ventricles are dilated or have impaired contractility. The heart becomes unable to pump sufficient blood around the body.
  • Familial hypertension: An inherited from of high blood pressure that tends to run in families.
  • Familial hypertrophic cardiomyopathy 1: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 1 is caused by a defect on chromosome 14q12.
  • Familial hypertrophic cardiomyopathy 10: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 10 is caused by a defect in the MYL2 gene on chromosome 12q23-q24.
  • Familial hypertrophic cardiomyopathy 11: An inherited heart condition involving thickening of the walls of the heart chambers which reduces the size of the heart chambers which restricts the outflow of blood from the heart ventricle and results in heart muscle disease. The condition may not cause any symptoms and can result in sudden death. Type 11 is caused by a defect in the ACTC1 gene on chromosome 15q14.
  • Familial hypertrophic cardiomyopathy 12: An inherited heart condition involving thickening of the walls of the heart chambers which reduces the size of the heart chambers which restricts the outflow of blood from the heart ventricle and results in heart muscle disease. The condition may not cause any symptoms and can result in sudden death. Type 12 is caused by a defect in the CSRP3 gene on chromosome 11p15.1.
  • Familial hypertrophic cardiomyopathy 2: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 2 is caused by a defect in the troponin-T2 gene on chromosome 1q.
  • Familial hypertrophic cardiomyopathy 3: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 3 is caused by a defect in the alpha-tropomyosin gene on chromosome 15q22.1.
  • Familial hypertrophic cardiomyopathy 4: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 4 is caused by a defect in the cardiac myosin binding protein-C gene on chromosome 11p11.2.
  • Familial hypertrophic cardiomyopathy 5:
  • Familial hypertrophic cardiomyopathy 6: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 6 is caused by a defect on chromosome 7q31-qter.
  • Familial hypertrophic cardiomyopathy 7: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 7 is caused by a defect in the TNNI3 gene on chromosome 19q13.4.
  • Familial hypertrophic cardiomyopathy 8: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 8 is caused by a defect in the MYL3 gene on chromosome 3p.
  • Familial hypertrophic cardiomyopathy 9: An inherited condition characterized by increased thickness of the wall of the heart ventricle which affects the hearts function. Type 9 is caused by a defect in the TTN gene on chromosome 2q24.3.
  • Familial pulmonary arterial hypertension: Familial pulmonary arterial hypertension refers to high blood pressure in the arteries that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition occurs in a familial pattern i.e. tends to run in families.
  • Familial venous malformations: A rare condition where localized areas of blood vessels undergo changes and may result in bleeding. Severity of the condition depends on the location of these lesions. Lesions can occur in internal organs where bleeding can result in death. Lesions can also occur on the skin, inside the mouth and even on the genitals.
  • Familial ventricular tachycardia: Rapid heart beat originating in the ventricles and tends to run in families.

 

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