Studies identify gene associated with sudden cardiac death

Two studies detected a gene that was associated with life-threatening heart rhythms that can lead to sudden cardiac death if not treated.

Medtronic announced the results in a news release on Aug. 31. The findings were also presented at the European Society of Cardiology Congress in London.

In the first trial, known as DISCOVERY, researchers monitored patients with implantable cardioverter defibrillators to prevent sudden cardiac death and identified a gene (GNAS) that holds two single nucleotide polymorphisms (c.2273C>T and c.393C>T) that were associated with a 50 percent relative risk increase for ventricular tachyarrhythmias. The prospective study enrolled 1,145 patients at 91 European centers between April 2007 and June 2011.

In the second trial, known as Oregon-SUDS, researchers reviewed a database of blood samples from 1,335 patients. They confirmed the DISCOVERY results and found that c.393C>T was associated with a 50 percent increased risk for sudden cardiac death.

Oregon-SUDS is an ongoing community-based study based in Portland that collects information on sudden cardiac arrest. The study is conducted by the Arrhythmia Research Laboratory at the Cedars-Sinai Heart Institute in Los Angeles and is supported by the American Heart Association and the National Heart, Lung and Blood Institute.

Medtronic funded the DISCOVERY trial and collaborated with the Oregon-SUDS lead researcher on the analysis.

“This research is vital to helping us better understand why some patients are at higher risk of sudden cardiac death, one of the leading causes of death globally,” Sumeet Chugh, MD, associate director of the Cedars Sinai Heart Institute and lead investigator for Oregon-SUDS, said in a news release. “These findings put us one step closer to understanding the complexities of sudden cardiac death and may, someday, help us identify which patients are at risk.”