Brugada syndrome: from genetics, diagnosis to clinical therapy

Abstract

Brugada syndrome is an inherited disease closely associated with genetic mutations, resulting in ventricular fibrillation and sudden cardiac death. To date, more than 40 genes have been identified to participate in the etiology of this devastating myocardial pathology, among which SCN5A is the predominant cause. Although considerable advances have been made in the molecular genetics of Brugada syndrome over the past decades, a comprehensive view of gene variants associated with Brugada syndrome pathogenicity and their pathophysiological mechanisms is still lacking. Recent studies have reanalyzed and reevaluated relevant genes and further elaborated genetic mechanisms underneath Brugada syndrome. Currently, gene-specific therapies based on culprit pathogenic genes are rapidly evolving, thus offering prospects for future research.