November 8, 2007–PITTSBURGH–Researchers at the University of Pittsburgh School of Medicine have identified a new gene responsible for a rare, inherited form of sudden cardiac arrest (SCA), known as Brugada syndrome.
Brugada syndrome is a rare inherited arrhythmia, which is more commonly symptomatic in males. It can present with an abnormality on the electrocardiogram (ECG), fainting or sudden death. It impairs the heart’s natural electrical ability to beat in a coordinated manner and maintain a stable rhythm.
With the identification of this new gene, the researchers hope this will shed light on the more common forms of sudden death in patients with heart attacks and heart failure, and will help aid in the development of new, effective therapeutic treatments that will prevent all types of fatal arrhythmias.
Lead author Barry London, M.D., Ph.D., the Harry S. Tack professor of medicine and chief, division of cardiology at the University of Pittsburgh School of Medicine and director of the University of Pittsburgh Medical Center (UPMC) Cardiovascular Institute and colleagues report their findings in Circulation: Journal of the American Heart Association.
“Patients with Brugada syndrome only rarely have symptoms, yet, they have this genetic mutation all the time,” said London. “So, the question now is, why do arrhythmias or sudden death happen on any one particular day? Something else is happening concurrently with this mutation to trigger the potentially lethal rhythm problems.