The propensity for cardiac death has genetic components, according to an international team of researchers. The team has discovered a genetic variation that may be putting people at higher risk of sudden cardiac death (SCD). The findings could help shed light on the genetic contribution of SCD susceptibility and offer key targets for functional studies to probe the aetiology and pathogenesis of SCD.

Only 5% of patients who suffer sudden cardiac arrest make it. For that reason, SCD is still one of the leading causes of mortality across the globe, with up to 5 million patients dying each year.

The study, which is funded in part by the EU Seventh Framework Programme (FP7) grant, investigated the entire set of human genes in a genome-wide association study and they sought to identify potential links between genetic variations and specific conditions or diseases. Sudden cardiac arrest is triggered by defective electrical impulses and heart attacks (myocardial infarction) are caused by clogged coronary arteries whose job it is to ease blood flow to the heart muscle.

A solution is an implantable cardioverter defibrillator (ICD) could be placed in the chest or abdomen for people who are at risk for SCD or other heart rhythm abnormalities. This would help identify faulty electrical impulses and offer a shock to restore normal rhythm. Providing improved genetic predictions of risk will bring researchers one step closer to making accurate predictions of which patients could benefit from costly ICD therapy.

The researchers investigated an association between other genetic variations that account for EKG (electrocardiogram) abnormalities, and they successfully identified several that could be used for improving the prediction of sudden cardiac arrest in the community.