title: Clinical aspects and physiopathology of Brugada syndrome: review of current concepts.
abstract: Brugada syndrome (BS) is an inherited cardiac disorder characterized by typical electrocardiographic patterns of ST segment elevation in the precordial leads, right bundle branch block, fast polymorphic ventricular tachycardia in patients without any structural heart disease, and a high risk of sudden cardiac death. The incidence of BS is high in male vs. female (i.e., 8-10/1: male/female). The disorder is caused by mutations in the SCN5A gene encoding Nav1.5, the cardiac sodium channel, which is the only gene in which mutations were found to cause the disease. Mutations in SCN5A associated with the BS phenotype usually result in a loss of channel function by a reduction in Na+ currents. We review the clinical aspects, risk stratification, and therapeutic management of this important syndrome.
authors.affiliation: Research Centre, Laval Hospital and Department of Medicine, Laval University, Sainte-Foy, Quebec G1V 4G5, Canada.
authors.forename: E
authors.initials: E
authors.lastname: Herbert
authors.forename: M
authors.initials: M
authors.lastname: Chahine
mesh_terms: D053840:Brugada Syndrome / Q000235:genetics / Q000503:physiopathology / Q000628:therapy; D004562:Electrocardiography; D005260:Female; D006801:Humans; D008297:Male; D009124:Muscle Proteins / Q000235:genetics; D009154:Mutation / Q000235:genetics; D062554:NAV1.5 Voltage-Gated Sodium Channel; D012307:Risk Factors; D015222:Sodium Channels / Q000235:genetics
chemical_list: D009124:Muscle Proteins; D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels