Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder, meaning that it takes just one parent to be a carrier of the disease to pass the defect to the child. HCM is the most common cause of sudden cardiac death in the young and affects one in every 500 individuals, including professional athletes. It is characterized by enlargement of the left ventricle, the heart's main pumping chamber.
More than 140 disease-causing mutations for HCM have been identified in up to 10 genes. The most common is a mutation in the gene for the beta-myosin heavy chain a major component in heart muscle. Myosin is one of the proteins responsible for contraction of heart muscle.
"However, many individuals with the most common mutation do not manifest hypertrophy until later in life; therefore, it is very challenging to identify the disease in time to help people," says Scott Solomon, M.D., director of noninvasive cardiology at Brigham and Women's Hospital, Cardiovascular Division and Harvard Medical School in Boston.
"Thickened hearts indicate hypertrophic cardiomyopathy, but not all individuals will develop this thickening. We wanted to find a way to diagnose the disorder earlier in the disease process," says Solomon.
Solomon and researchers led by Carolyn Y. Ho, M.D., used a relatively new imaging technique called Doppler tissue imaging (DTI), which is a real-time noninvasive ultrasound procedure that shows how fast the heart muscle moves during contraction and relaxation.
Researchers found that individuals who had HCM tended to have lower velocities during the relaxation phase of the cardiac cycle.
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Contact: Carole Bullock
carole.bullock@heart.org
214-706-1279
American Heart Association
3-Jun-2002