Echocardiography-Guided Genetic Test Could Improve Screening For Lethal Heart Condition

Mayo Clinic researchers say that the distinctive features of the heart muscle could be used to accurately diagnose the presence of a genetic quirk that is linked to a lethal, inherited heart condition called hypertrophic cardiomyopathy (HCM).

Steve Ommen, M.D., director of Mayo’s HCM Clinic and co-lead investigator of the Mayo Clinic research team said that the currently available test was only able to detect this quirk about 40 percent of the time, but combining it with imaging increased this accuracy to 79 percent. The findings, published in the current edition of Mayo Clinic Proceedings (http://www.mayoclinicproceedings.com/ ), seem to suggest that a combined approach using an echocardiography-guided genetic test could help in the genetic counseling process. Hypertrophic cardiomyopathy is an inherited condition wherein the heart muscle gets thickened and enlarged. This condition is the most common cause of sudden death in young people, mostly athletes. Genetic screening for mutations can help prepare the parents for any eventuality. Treatment of the condition includes "medication to defibrillator implantation, to surgery and lifelong medical surveillance for worsening symptoms." The new research can basically yield new information and trace genetic patterns. “Our finding helps families two ways: short term and in the future,” Dr. Ommen said. “In terms of the most immediate application, the echocardiographic shape of the heart can help physicians give families more meaningful and accurate information about the role of genetic testing for that specific family. In terms of the future, it presents a research opportunity to explore how and why this distinct trait of heart anatomy occurs — which hopefully will give us a better handle on HCM all around and help us design interventions to prevent or correct this defect.”