Harvard Heart Letter

Hypertrophic cardiomyopathy: Who has an inherited risk?

Genetic testing can help doctors guide care for families with a history of heart disease.

Having a family member with heart disease—especially when it shows up at a young age—is a warning sign that you too may be at risk. The more common maladies such as high blood pressure and coronary artery disease are influenced by an array of different genes and compounded by lifestyle choices and environmental factors. However, certain relatively rare conditions stem from only one or a few faulty genes with powerful disease-causing effects. The most common of these inherited heart conditions is hypertrophic cardiomyopathy (HCM), which affects up to one in every 500 people.

What is HCM?

Best known for cutting down young athletes in their prime, HCM causes an abnormal thickening of the heart wall. In rare cases, the first inkling of disease may be fainting or sudden death due to an abnormal heart rhythm. More often, symptoms such as shortness of breath or chest pain with exercise develop over time.

The key feature of inherited HCM is that the thickening of the heart muscle is unexplained, says Dr. Carolyn Y. Ho, medical director of the cardiovascular genetics center at Harvard-affiliated Brigham and Women's Hospital. "We wouldn't leap to the diagnosis of HCM if we saw these changes in an older person with a history of high blood pressure. But if it occurs early in life without the presence of other triggering factors, we would think about HCM and look for a familial pattern," she says.

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