Atrial Fibrillation and SCN5A Variants

摘要

The incidence and prevalence of atrial fibrillation (AF) continues to increase and may in part be explained by the aging of the population.Recent data suggest that both genetic and acquired risk factors increase susceptibility to AF and their simultaneous occurrence has given rise to the "two-hit" hypothesis for the development of AF.SCN5A variants have also been linked with an increasing number of cardiac arrhythmia syndromes including long QT syndrome, Brugada syndrome, sick-sinus syndrome, conduction disease, AF, atrial standstill, overlap syndromes with mixed arrhythmia phenotypes. and drug-induced arrhythmias.Common and rare genetic variants in SCN5A, which encode the alpha-subunit of human cardiac sodium channel, have been associated with AF with both gain- and loss-of-function variants modulating susceptibility to AF.SCN5A genetic variants have not only provided important insights into AF mechanisms but also uncovered novel therapeutic targets for the treatment of this common and morbid condition.