Rare cardiac diseases list

Rare Genetic Diseases of the HeartPhoto Credit Photodisc/Photodisc/Getty Images

Genetic diseases of the heart are those that are caused by a mutation in one or more genes that affect the structure or function of the heart muscle. Many of these diseases are rare, inherited only when one or both parents pass down the affected gene. Some of these conditions are especially common in certain communities or cultures where the populations are relatively isolated.

Arrhythmogenic right ventricular dysplasia is a genetic disease in which normal heart tissue is progressively replaced with fat and scar tissue. According to St. Lukes-Roosevelt Hospital Center, tissue damage occurs predominantly in the right chamber of the heart. People who inherit this genetic disease may develop arrhythmias, or abnormal heart rhythms. Arrhythmogenic right ventricular dysplasia is a known cause of sudden death from cardiac arrest in people younger than 30. The condition is especially prevalent in communities in northeast Italy.

Brugada syndrome is a life-threatening, frequently inherited disorder characterized by an abnormal heart rhythm, called a Brugada sign, according to the Mayo Clinic. This arrhythmia prevents the chambers of the heart from pumping effectively, preventing blood from traveling normally throughout the body. As a result, fainting or sudden heart attack leading to death can occur.

Dilated cardiomyopathy is a condition in which the heart's left ventricle becomes enlarged and weak, reducing the heart's ability to pump blood. Over time, the disorder can damage multiple organs and lead to congestive heart failure. According to the Cleveland Clinic, about one-third of patients with dilated cardiomyopathy have an inherited form called familial dilated cardiomyopathy. Familial dilated cardiomyopathy is autosomal dominant, meaning you need only to get the abnormal gene from one parent in order to inherit the condition.

Congenital long QT syndrome occurs in approximately 1 in 7, 000 to 10, 000 people in the United States, according to St. Lukes-Roosevelt Hospital Center. This condition is the result of gene mutations that lead to abnormal heart rhythms. A form of Long QT syndrome called Ward-Romano syndrome leads to abnormal electrical conduction in the heart that can cause fainting and sudden death, according to the Howard Hughes Medical Institute.

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