Hypertrophic cardiomyopathy (HCM) is a common inherited cardiovascular disease present in one in 500 of the general population. In people with HCM, the heart muscle (myocardium) becomes abnormally thick, making it harder for the heart to pump blood.
Although hypertrophic cardiomyopathy is the most frequent cause of sudden death in young people (including trained athletes), and can lead to functional disability from heart failure and stroke, the majority of affected individuals probably remain undiagnosed and many do not experience greatly reduced life expectancy or substantial symptoms.
Clinical diagnosis is based on otherwise unexplained left-ventricular hypertrophy identified by echocardiography or cardiovascular MRI. Effective treatment strategies are available, including implantable defibrillators to prevent sudden death, drugs and surgical myectomy (or, alternatively, alcohol septal ablation) for relief of outflow obstruction and symptoms of heart failure, and pharmacological strategies (and possibly radiofrequency ablation) to control atrial fibrillation and prevent embolic stroke.
Now, after more than 50 years, hypertrophic cardiomyopathy has been transformed from a rare and largely untreatable disorder to a common genetic disease with management strategies that permit realistic aspirations for restored quality of life and advanced longevity.
Source: Dr. Martin S. Maron, Director, Hypertrophic Cardiomyopathy Center; Co-Director, Cardiac CT and MRI; Assistant Professor, Tufts University School of Medicine
Source: Dr. Travis Hinson, The Jackson Laboratory, UConn Health