Center for Heart & Vascular Health

Inherited Cardiomyopathies

Cardiomyopathy is a disease of the heart muscle in which the heart loses its ability to pump blood effectively. Many forms of cardiomyopathy are genetic. Family members of someone with cardiomyopathy are often at risk to develop the disease.

Hypertrophic cardiomyopathy (HCM)

Hypertrophic cardiomyopathy is the most common inherited heart disorder, affecting approximately 1 in every 500 people. It occurs when the left ventricle of the heart is thicker than normal. This reduces the heart's ability to pump blood.

Hyertrophic cardiomyopathy can be caused by an abnormality in a gene that codes the characteristics for the heart muscle.

Dilated cardiomyopathy (DCM)

Dilated cardiomyopathy is seen in approximately 1 in 2,500 people. Signs of dilated cardiomyopathy include an enlarged or dilated left ventricle and reduced pumping function.The enlargement is a result of a weakened heart muscle.

Studies have shown that 20 to 35 percent of primary dilated cardiomyopathy is linked to genetics.

Restrictive cardiomyopathy (RCM)

Restrictive cardiomyopathy is rare. Signs of RCM include a stiffening of the ventricular walls, which restricts the heart's ability to stretch and fill with blood properly. Little is know about its genetic causes.

Arrhythmogenic right ventricular cardiomyopathy (ARVC)

Arrhythmogenic right ventricular cardiomyopathy is estimated to affect 1 in 5,000 people. In this condition, the heart muscle is gradually replaced by fat tissue. This may lead to episodes of rapid heartbeats (arrhythmia), which can cause cardiac arrest and sudden death. Approximately half of the cases of this condition are caused by inherited genetic mutations.

The genetics of cardiomyopathy

The majority of genetic alterations or mutations responsible for causing cardiomyopathy are passed through a family in an autosomal dominant pattern. In autosomal dominant patterns, a mutated gene from only one parent is needed to pass on the disorder.

Autosomal dominant disorders tend to occur in every generation of an affected family, with all children of a parent with a genetic alteration having a 50 percent chance of inheriting the alteration.

Familial Cardiovascular Risk Assessment Program
Center for Heart & Vascular Health
4755 Ogletown-Stanton Road, Newark, DE 19718 directions
302-623-4630