New hope for an inherited form of heart disease

Genetic advances are improving the recognition and treatment of hypertrophic cardiomyopathy.

Published: March, 2020

The term "heart disease" often refers to plaque-filled heart arteries that can lead to a heart attack. More accurately described as coronary artery disease, it's by far the most common and best known type of heart disease. Most people are far less familiar with the most common inherited form of heart disease, hypertrophic cardiomyopathy (HCM), which affects the heart muscle rather than its arteries.

HCM is thought to affect one in 500 people. It's far more common than better known diseases such as multiple sclerosis and cystic fibrosis. But HCM can be tricky to diagnose. "In the clinic, we suspect hypertrophic cardiomyopathy in people who have unexplained thickening of the heart muscle seen on an echocardiogram," says Harvard Medical School professor Dr. Christine Seidman. Other conditions, such as longstanding high blood pressure, can also cause the heart to enlarge. Because high blood pressure is so common, it's sometimes mistakenly blamed for the signs of HCM in older people, she says. In younger people, HCM is sometimes misdiagnosed as exercise-induced asthma or anxiety.

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