Herbert E, Chahine M
Research Centre, Laval Hospital and Department of Medicine, Laval University, Sainte-Foy, Quebec G1V 4G5, Canada.
Can J Physiol Pharmacol. 2006 Aug-Sep;84(8-9):795-802. doi: 10.1139/y06-038.
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.
布加综合征(BS)是一种遗传性心脏疾病,其特征为胸前导联ST段抬高、右束支传导阻滞的典型心电图模式,在无任何结构性心脏病的患者中出现快速多形性室性心动过速,以及心脏性猝死风险高。男性与女性相比,布加综合征的发病率较高(即8 - 10/1:男性/女性)。该疾病由编码心脏钠通道Nav1.5的SCN5A基因突变引起,这是唯一被发现突变会导致该疾病的基因。与布加综合征表型相关的SCN5A突变通常通过减少Na +电流导致通道功能丧失。我们综述了这一重要综合征的临床方面、风险分层和治疗管理。