Glossary for Heart Murmur

• Abnormal heart sound: Abnormal heart sounds refers to any deviant or irregular sounds made by the beating heart.
• Acute rheumatic fever: Bacterial joint infection with risk of heart complications.
• Additional Heart Sounds: A heart sound that is heard in addition to the normal two beats.
• Amyloidosis: 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. Symptoms depend on the organs involved. There are numerous forms of the condition: primary amyloidosis, secondary amyloidosis, hemodialysis-associated amyloidosis and familial amyloidosis.
• Aorta conditions: Conditions that affect the aorta
• 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 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 stenosis: A condition which affects the aortic valve of the heart resulting in stenosis of the valve.
• 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 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.
• Arrhythmias: Irregularity in the heart's beating rhythm.
• Atrial Septal Defect: An abnormal connection between the 2 atria, or upper chambers of the heart
• Axenfeld-Rieger anomaly with cardiac defects and sensorineural hearing loss: A rare syndrome characterized mainly by heart defects, hearing impairment and a congenital eye disorder called Axenfeld-Rieger anomaly.
• Bacterial endocarditis: Infection and inflammation of the inner layers of the heart, most commonly the valves cause by bacteria.
• 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.
• 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.
• Cardioauditory syndrome of Sanchez- Cascos: A rare syndrome characterized mainly by heart and hearing abnormalities. The deafness was present at birth or soon after.
• Chest conditions: Any condition affecting the chest
• Chromosome 11, deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Chromosome 12, trisomy 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Chromosome 12q duplication syndrome: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy.
• Chromosome 17p, partial deletion: A rare chromosomal disorder involving deletion of genetic material from the short arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the lost genetic material.
• Chromosome 17q, partial duplication: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 17. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
• 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 3, monosomy 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and polydactyly.
• Chromosome 4, trisomy 4q: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 4q duplication syndrome: A rare chromosomal disorder involving duplication of the long arm (q) of chromosome 4 which results in various abnormalities depending on the size and location of the portion of duplicated genetic material.
• Chromosome 7p deletion syndrome: A rare chromosomal disorder where part or all of the short arm (p) of chromosome 7 is deleted resulting in various abnormalities which are determined by the size of the deleted portion.
• Chromosome 8p inverted duplication syndrome: A rare chromosomal disorder involving the inverted duplication of the short arm (p) of chromosome 8 resulting in three copies of the genetic material instead of the normal two. The type and severity of symptoms is determined by the location and size of the duplication.
• Chromosome 9, Partial Monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities. The type and severity of symptoms is determined by the amount of genetic material that is missing.
• Chromosome 9, monosomy 9p: A rare chromosomal disorder where a portion of the short arm (p) of chromosome 9 is missing resulting in various abnormalities.
• Circulatory system conditions: Medical conditions affecting the heart and the circulatory system.
• Cobalamin malabsorption, selective, with proteinuria: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Congenital Vitamin B12 Malabsorption: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• 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 defects: Heart defects that a baby is born with.
• 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.
• 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.
• 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.
• Deletion 11p: A syndrome that is caused by the deletion of short arm (p) of chromosome 11. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is deleted.
• Deletion 22q11: A rare chromosomal disorder where a small piece of genetic material is missing from chromosome 22 at the q11 location.
• Deletion 3p: A rare chromosomal disorder where a portion of chromosome 3 is absent and is characterized by mental and growth deficiency, drooping upper eyelid and extra digits.
• DiGeorge's syndrome: Rare form of primary immune deficiency
• 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.
• Duplication 12q: A rare chromosomal disorder where there are three copies of the long arm (q) of chromosome 12 rather than the normal two resulting in various abnormalities. In most cases, death occurs during infancy. The type and severity of symptoms varies depending on the amount and exact location of the genetic material that is duplicated.
• Eisenmenger Syndrome: Increased lung blood pressure that can result from conditions such as a hole in the wall between the two heart chambers.
• Endocarditis: Inflammation of the inner lining of the heart
• Familial Selective Vitamin B12 Malabsorption: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• 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.
• Graeck-Imerslund disease:
• Grasbeck-Imerslund Disease: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Heart Murmur: Unusual heart sound heard by stethoscope
• Heart cancer: A malignancy that is located in the heart
• Heart conditions: Any condition that affects the heart
• Heart disease: Any of various heart conditions.
• Heart rhythm symptoms: Problems with the rhythm of the heartbeat (arrhythmias)
• Heart valve diseases: Diseases that affect the valves of the heart
• Hurler syndrome:
• Hypertrophic cardiomyopathy: Heart damage from thickened heart walls.
• Hypertrophic subaortic stenosis: A heart condition involving thickening of parts of the heart (usually the muscle wall separating the heart chambers) which reduces the size of the heart chambers (specifically the left ventricle). This abnormally thick heart muscle restricts the outflow of blood from the left heart ventricle and results in heart muscle disease. The condition is considered to be uncommon but not rare with as many as 1 in 500 people affected. The condition is usually caused by a genetic defect and the severity of the condition is variable.
• Imerslund's Anemia: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Imerslund's Syndrome: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Imerslund-Najman-Grasbeck Anemia: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Imerslund-Najman-Grasbeck Disease: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Imerslund-Najman-Grasbeck Syndrome: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Infective endocarditis: The infection and inflammation of the inner heart layers, especially the valves. The infection is usually bacterial. The condition carries a high risk of death.
• Juvenile Megaloblastic Anemia: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Kozlowski-Celermajer syndrome: A rare disorder characterized by congenital heart disease and spine and upper arm bone abnormalities.
• Loeffler's endocarditis: Heart muscle disease caused by infiltration of the heart by eosinophils (type of white blood cell). It occurs as a complication long-term, high eosinophilic levels in the peripheral blood.
• Loud Heart Sounds: Heart sounds that are louder than normal.
• Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
• Megaloblasti Anemia, 1: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Megaloblastic Anemia, Familial: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Megaloblastic anemia: A rare blood disorder where insufficient vitamin B12 absorption results in reduced production of red blood cells and increased levels of abnormal, enlarged red blood cells (megaloblasts). Vitamin B12 insufficiency can result from absorption problems or lack of dietary intake of the vitamin or folic acid.
• Midline field defects: Congenital problems that occur along the vertical axis of the body. Defects can involve the brain, spine, heart, genitals and midline of the head and face.
• Mitral regurgitation: A condition which is characterized by a regurgitation of blood from the left ventricle into the atrium due to a problem with the mitral valve
• Mitral stenosis: Narrowing of the mitral heart valve
• Mitral valve prolapse syndrome: A rare condition where an abnormal heart valve (mitral vavle) fails to close properly and allows some blood to leak through.
• Mitral valve prolapse, familial: Mitral-valve prolapse (MVP) is frequently diagnosed in healthy people and is, for the most part, harmless. Most people suffer no symptoms at all. Sometimes it occurs in a familial pattern.
• Mitral-valve prolapse: A common heart condition that is often harmless.
• Mucopolysaccharidoses: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
• Mucopolysaccharidosis VI: A lysosomal storage disorder that is caused by a deficiency of the ability to metabolise glycosaminoglycans
• Mucopolysaccharidosis type I Hurler syndrome: A rare inherited biochemical disorder characterized by the accumulation of mucopolysaccharides (glycosaminoglycans) in various body tissues due to insufficient amounts of the enzyme (?-L-diuronidase) needed to break it down. There are three main sub-types of the disorder: Hurler - severe form, Scheie - mild form and Hurler/Scheie form which is intermediate.
• Mungan syndrome: A recessively inherited disorder characterized by heart abnormalities and gastrointestinal abnormalities. Death has occurred in some cases during the late teenage years.
• Murmur: A periodic sound od short duration arising from the cardiac or vascular system.
• Nathalie syndrome: A very rare condition described in four children of one family. The condition is characterized by wasting of the spine muscles, abnormal heart electrical activity, cataracts, hypogonadism and hearing impairment.
• Pernicious Anemia, Juvenile type: A rare inherited disorder characterized by vitamin B12 deficiency which results from the body's inability to absorb vitamin B12 from the foods eaten.
• Pulmonary artery coming from the aorta: A rare congenital heart defect which is usually fatal. The pulmonary artery is abnormally placed and comes out of the aorta.
• Pulmonary atresia -- intact ventricular septum: A very rare heart defect where the opening that allows blood to travel from the heart to the lung is narrowed or absent which impairs the body's ability to oxygenate blood. Death generally occurs without immediate medical attention.
• Pulmonary branches stenosis: A very rare disorder where the pulmonary branches are narrower than normal. The severity of symptoms depends on the degree of narrowing.
• Pulmonary incompetence: A condition characterised by incompetence of the pulmonary valve of the heart
• Pulmonary supravalvular stenosis: A very rare defect where the pulmonary artery is narrowed above the valve. The severity of symptoms is variable.
• Pulmonary valve disease: Any condition that affects ones pulmonary valve
• Pulmonary venous return anomaly: A rare disorder where one or more of the four veins that carry oxygenated blood from the lungs drain to the right atrium of the heart instead of the left atrium. Symptom severity is determined by the number of veins involved and the exact location of the heart that the veins drain into.
• Rheumatic fever: An inflammatory disorder that can occur as a complication of untreated streptococcal bacterial infection such as strep throat or scarlet fever. The condition may affect the brain, skin, heart and joints.
• Rieger anomaly -- partial lipodystrophy: A very rare disorder characterized by short stature, low birth weight and loss of skin fat. SHORT is an acronym for short stature, hyperextensible joints and/or hernia, ocular depression, Reiger anomaly and teething delay. Additional symptoms are also variably present.
• Seronegative spondyloarthropathy: Spondyloarthropathy that is negative to rheumatoid facotr
• Shprintzen syndorme: An inherited syndrome of cardiac defects and craniofacial anomalies and various other abnormalities.
• Tricuspid valve diseases: Any disease that affects the tricuspid valve
• Trisomy 5 mosaicism: A very rare chromosomal disorder where there is an extra copy of chromosome 5 in some of the body's cells. Some cases with this chromosomal abnormality have no clinical symptoms. The presence of abnormalities in some cases is dependent on which body cells contain the chromosomal defect.
• Valvular dysplasia of the child: A condition which is characterised by the dysplasia of one or more of the valves to a childs heart
• Velocardiofacial syndrome: A genetic disorder which can present with a wide range of phenotypic manifestations which has lead to a number of different names being assigned to the various presentations e.g. DiGeorge Syndrome and Cayler Anomaly Face Syndrome. There are nearly 200 different symptoms that can occur and the severity of the condition is also highly variable depending on the nature and severity of the symptoms that are present.
• Ventricular septal defect: An abnormal connection between the 2 lower chambers (ventricles) of the heart.
• Ventriculo-arterial discordance, isolated: A rare birth disorder where the right atrium is connected to the left ventricle and vice versa. The position of the heart ventricles is also inverted which allows normal blood oxygenation. Symptoms generally only occur later in life or if other heart defects are present which is usually the case.
• WAGR Syndrome: A syndrome that is due to the deletion of chromosome 11.
• Wilms tumor -- aniridia -- genitourinary anomalies -- mental retardation: A syndrome resulting from deletion of genetic material from chromosome the short arm of chromosome 11 (11p13). The characteristic symptoms are partial or complete absence of iris, genitourinary anomalies, mental retardation and Wilms' tumor. The specific range and severity of symptoms is variable depending on the size and exact location of the genetic material that is missing.
• Wilms tumor and radial bilateral aplasia: A condition that is characterised by bilateral aplasia of the kidneys and wilms tumor
• Wilms tumour and pseudohermaphroditism: A syndrome that is characterised by the occurrence of Wilms tumor with pseudohermaphroditism
• Wilms tumour and radial bilateral aplasia: A conditions that is characterized by the absence of one of the two forearm bones (radius) as well as the development of a type of kidney tumor called Wilm's tumor.
• Wilms' tumor: A malignant kidney tumor that occurs in children.
• Wolcott-Rallison syndrome: A very rare genetic condition characterized primarily by the onset of diabetes mellitus during infancy and epiphyseal dysplasia (abnormal joint development).
• Yorifuji Okuno syndrome: A condition that is characterised by pancreatic insufficiency and heart disease
• Zunich neuroectodermal syndrome: A very rare genetic syndrome characterized by a range of symptoms such as colobomas of the eye, heart defects, ichthyosiform dermatosis, mental retardation and ear defects.

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