Researchers at the University of Pittsburgh School of Medicine have identified a new gene responsible for a rare, inherited form of sudden cardiac arrest, known as Brugada syndrome.
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 the online version of Circulation: Journal of the American Heart Association. A link to the online paper, which is scheduled for the Nov. 12 print issue of Circulation is available at http://circ.ahajournals.org/
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. In about 20 percent of cases with Brugada syndrome patients, mutations in the heart's sodium channels lead to less current flow and shorter heart beats in a part of the heart. This puts patients at risk for rapid heart rhythms such as ventricular tachycardia and fibrillation. Symptoms often present with no warning, and the seemingly healthy patient passes out and/or suffers a sudden cardiac arrest from an arrhythmia.
Arrhythmias remain a major public health problem leading to more than 250,000 sudden cardiac deaths each year. Brugada syndrome was only identified approximately 15 years ago and much is still not understood about the condition. It is found all over the world and presently there is no cure. The best therapy to date is to implant a defibrillator into the chests of patients who are clinically found to be at high risk.