Researchers Crack Genetic Code of a Sudden Death Cardiac Killer

Researchers in Newfoundland have discovered a new way to detect arrhythmogenic right ventricular cardiomyopathy, or ARVC. The disorder is the combination of cardiomyopathy, the degredation of heart muscle into scar tissue and fat, and cardiac arrhythmia caused by electrical impulses from within the heart. ARVC is caused by a genetic mutation called ARVD5. The condition causes sudden cardiac death in patients: 80% of males and 20% of women with the condition die by age 50. Many of the affected patients do not show any early symptoms until they experience sudden cardiac death and die. With this new breakthrough, doctors can determine if a patient is affected, using a genetic screening and a family history. If a patient is found to have the condition, an internal cardiac defibrillator (ICD) can be implanted to restart the patient's heart if it stops. This new technology can help save thousands of lives of patients with ARVC. Researchers are now trying to apply this technology to diagnose other inherited cardiac conditions as well.

I found this article interesting, because as a future cardiologist, I will be dealing with patients with such heart conditions. Thousands of patients die every year with undiagnosed, "sleeper" cardiac conditions, which cause cardiac arrest without warning. Knowing that a simple genetic test could determine if a patient has a "sleeper" condition makes me feel hopeful about the future of cardiology. I am curious to see if researchers will discover genetic tests for other common cardiac conditions.

Source:

http://www.sciencedaily.com/releases/2010/10/101026090648.htm