Hypertrophic cardiomyopathy is a heart condition characterized by thickening (hypertrophy) of the heart (cardiac) muscle. When multiple members of a family have the condition, it is known as familial hypertrophic cardiomyopathy. Hypertrophic cardiomyopathy also occurs in people with no family history; these cases are considered nonfamilial hypertrophic cardiomyopathy.

Variants (also known as mutations) in one of several genes can cause familial hypertrophic cardiomyopathy; the most commonly involved genes are MYH7, MYBPC3, TNNT2, and TNNI3. Other genes may also be involved in this condition, including some that have not been identified.

Familial hypertrophic cardiomyopathy affects an estimated 1 in 200 people worldwide. It is the most common genetic heart disease in the United States. The familial form of hypertrophic cardiomyopathy accounts for more than half of cases.

Familial hypertrophic cardiomyopathy is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Rarely, both copies of the gene are altered, leading to more severe signs and symptoms.

Published Date: January 18, 2023
Published By: National Institutes of Health