Genetic basis of brugada syndrome

Abstract

Despite the ongoing developments in understanding the genetic causes of Brugada Syndrome (BrS), only about 30-50% of BrS probands have potential pathologic genetically identified variants. About eighteen genes have been associated with BrS and a lot of pathogenic mutations in several genes have been found. These genes encode for subunits of cardiac sodium, potassium, and calcium channels as well as genes involved in the regulation of these channels. Mutations in the cardiac sodium channel gene SCN5A are identified in 11-28% of patients with BrS and over 300 different mutations of this gene have been identified and the list is growing. Pathogenic mutations associated with BrS could be also localized in unknown genes and incomplete penetrance and variable expressivity characteristics are frequent in families. Isolated cases may be found in up to 60% of patients.