Genetic Architecture, Pathophysiology, and Clinical Management of Brugada Syndrome

Abstract

Brugada syndrome (BrS) is a genetically complex and heterogeneous disorder characterized by ST-segment elevation in the right precordial leads and an increased risk of syncope and sudden cardiac death in the setting of an otherwise structurally normal heart. Over the last several years, advances at both the bench and the bedside have begun to question existing paradigms surrounding the genetic basis and pathophysiology of BrS as well as usher in novel approaches to the risk stratification and treatment of patients with this potentially fatal disorder. In this chapter, we examine the rapidly evolving understanding of the pathophysiological mechanism(s) underlying BrS, ongoing efforts to reappraise the genetic architecture of BrS, and advances in risk stratification and therapeutic approaches that are redefining how patients with BrS are managed clinically.