Even more importantly, scientists appear to be close to being able to offer simple screening for people at high risk, and preventive treatment based on that screening. So far, researchers have identified 10 genes with 160 mutations that cause the deadly heart condition called hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy is a potentially life-threatening enlargement of the heart.
It affects about one in every 500 people and is the leading cause of sudden death among young competitive athletes in the U.S., and is the cause of 20,000 deaths per year. It usually shows up sometime after puberty when a person is in his or her 20s and 30s. Symptoms may include shortness of breath on exertion, dizziness, fainting, and chest pain, but often the only symptom is sudden death. The hearts of people with hypertrophic cardiomyopathy are enlarged because the walls of the heart, the heart muscle, become scarred and are too thick to work properly. Strenuous activity increases the heart's workload, and the enlarged heart cannot handle the added work.