Presented by: Euan Ashley, MRCP, D.Phil.
Assistant Professor of Medicine, Stanford Medical Center
Cardiomyopathy is a disease of the heart muscle in which the heart loses its ability to pump blood effectively. Among the so-called rare cardiovascular diseases, Hypertrophic Cardiomyopathy (HCM) is the most common (1:500). In HCM, a gene mutation causes the muscle mass of the left ventricle of the heart to become larger than normal. Sometimes this is asymmetric and the wall between the two ventricles (septum) becomes disproportionately enlarged, obstructing the blood flow from the left ventricle. A heart murmur may be heard. Hearts of HCM patients also do not relax properly between beats. Symptoms include shortness of breath on exertion, dizziness, fainting, and angina pectoris. Some patients experience cardiac arrhythmias, which may lead to sudden death. Fortunately, good treatments are available such as medicines, implantable defibrillators, and methods for reducing the abnormal muscle such as surgery or ablation.
HCM affects males and females alike without regard to race or other factors. It is, however, a genetic disease, and Dr. Ashley stressed the importance of screening for family members of those known to have the disease. HCM is the number one cause of sudden death in athletes and often appears with no warning. Scientific research continues on this troubling and potentially very dangerous condition.
Screening for HCM Encouraged – It’s a Family Affair
Dr. Ashley was joined by Lisa Salberg, President, Hypertrophic Cardiomyopathy Association, who underscored the need for screening among family members. Screening is usually performed by an ultrasound test of the heart, or by genetic evaluation.
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