Index> 6CVC> Arrhythmias and Electrophysiology Arrhythmias and Electrophysiology Symposium Brugada Syndrome: Etiological Forms, Genetic Basis, Allelic Overlap Syndromes And Phenocopies State-Of-The Art Communication Point Of View And Overview

Brugada Syndrome (BrS) is a channelopathy caused partially by mutations in the cardiac sodium channel gene SCN5A (genetically determined forms) with an autosomal dominant pattern of transmission.About 20 % of subjects with BrS were found to carry an SCN5A gene mutation [1]. Most cardiac channelopathies are inherited as autosomal dominant disorders. This means that any person with an inherited cardiac channelopathy has a 50 % chance of passing it on to each of his or her children. The penetrance and expressivity of the disease is highly variable. It is now appropriate to consider the "sodium channel syndrome " (mutations in sodium channel alpha-subunit gene SCN5A) as a unique clinical entity that may manifest itself with a broad spectrum of possible phenotypes [2]. Sodium channels are heteromultimeric, integral membrane proteins belonging to a superfamily of ion channels. Nav1.5 is part of several multi-protein complexes located in different membrane compartments of the cardiac cells. The proteins that associate with Nav1.5, and form these complexes, can be classified as [3]: 1) Anchoring/adaptor proteins [4; 5] 2) Enzymes interacting with and modifying the channel 3) Proteins modulating the biophysical properties of Nav1.5 upon binding. The mutations in genes coding for sodium channel proteins have been linked with several genetic disorders. They constitute a spectrum of disease entities termed Na+ channelopathies. These diseases are allelic disorders, if not the sam