Genetics of Brugada syndrome

The Brugada syndrome has been investigated in depth since its description in 1992 both on a clinical and on a basic research level. Since the discovery of the first genetic defect in 1998, several genes have been subsequently identified. However, to date all these genes together explain only 30% of the cases, indicating that there is still an important amount of work to be done to totally unravel the genetic basis of this lethal disease. In the present study, we will focus on recent achievements in the genetic basis of this disease.

In 2009, several additional genetic mutations have been associated with the disease. Additionally, a common variant has been described as a genetic modulator of Brugada syndrome among carriers of a SCN5A mutation.

The number of scientific publications dealing with the syndrome has continued to increase substantially in recent years. New polymorphisms, mutations and genes associated with the disease have been described. However, despite the advances, knowledge of the genetic determinants of the Brugada syndrome remains limited.