According to recent study, a simple imaging test may identify patients with the gene mutation that causes a potentially fatal heart condition. Researchers used Doppler tissue imaging (DTI) as a more powerful way to diagnose hypertrophic cardiomyopathy earlier in a patient's life. Hypertrophic cardiomyopathy (HCM) causes thickening of the left ventricle of the heart and is the most common cause of sudden cardiac death in the young, affecting one in 350 individuals. While more than 120 disease-causing mutations for HCM have been identified in up to 10 genes, many patients do not show any thickening of the heart until much later in life.
The new method uses a non-invasive ultrasound procedure to show how fast the heart muscle is moving during contraction and relaxation. Researchers found patients with the most common HCM gene mutation had lower velocities during relaxation and higher contraction levels, particularly in the left ventricle, the heart's main pumping chamber. The test showed about an 86-percent accuracy rate in determining patients with the gene mutation when velocity and contraction were measured using DTI.
Robert Roberts, Baylor College of Medicine in Houston, an author of this study, offers promise that younger patients will be diagnosed earlier with the disease, instead of after puberty when hypertrophy usually begins to develop. Advances like this one may make a difference with this disease as well as help us understand and prevent sudden death in our population, particularly in young athletes.