Médecine moléculaire et génétique

Brugada Syndrome-An Always Surprising Disease: A Case Report

Abstract

Balla C, Zaraket F, Brieda A, Vitali F, Bertini M, Tenti E, Manfrini M, Armaroli A, Trabanelli C, Rimessi P, Ferlini A and Gualandi F

Brugada Syndrome (BrS) is an inherited channelopathy, with an autosomal dominant transmission, incomplete penetrance and variable expressivity, associated with high risk of malignant arrhythmias and sudden cardiac death, predominantly in young men. Even though nearly 30 years of study about this syndrome has gone past, several key points still remain to elucidate: The lack of a definite consensus regarding the management of asymptomatic patients, the influence of drug challenging test, the role of genetic test, symptoms and electrophysiological study in the decision-making process, the management of apparently low risk patients, the role of epicardial ablation are only some of the topics of ongoing controversy. This case report highlights these important and still debated topics about BrS, suggesting how much is still unknown about it.