Gene Variant Linked to Risk for Sudden Cardiac Death in Blacks with Heart Failure

In a new study, a variant in the cardiac sodium channel gene was associated with appropriate receipt of implantable cardioverter-defibrillator shocks.

How an organized heart rhythm can degenerate to chaos in a single heartbeat is incompletely understood. Most established risk factors for sudden cardiac death (SCD) are linked to left ventricular ejection fraction (LVEF), yet a familial component is also evident.

The S1103Y variant of the cardiac sodium channel gene SCN5A, found almost exclusively in blacks (13% penetrance), has been previously linked to sudden infant death syndrome and to ventricular arrhythmias in individuals taking QT-prolonging drugs. Now, researchers have made use of the Duke Electrophysiology Genetic and Genomic Studies biorepository to conduct a retrospective analysis in 112 black patients genotyped for the S1103Y variant who had LVEFs <35% and implantable cardioverte…

Reviewing Author

Mark S. Link, MD

Disclosures

Editorial BoardsCirculation; UpToDate

Mark S. Link, MD

Disclosures

Editorial BoardsCirculation; UpToDate