Escárcega Ricardo O, Jiménez-Hernández Mario, Garcia-Carrasco Mario, Perez-Alva Juan Carlos, Brugada Josep
Internal Medicine, Temple University Hospital, Philadelphia, Pennsylvania 19140, USA.
Acta Cardiol. 2009 Dec;64(6):795-801. doi: 10.2143/AC.64.6.2044745.
The Brugada syndrome is an inherited cardiac disorder initially described in 1992 by Pedro and Josep Brugada, with variable electrocardiographic features characteristic of right bundle-branch block, persistent ST-segment elevation in the precordial leads (VI-V3) at rest and sudden cardiac death. The genetic abnormalities that cause Brugada syndrome have been linked to mutations in the ion channel gene SCN5A which encodes for the alpha-subunit of the cardiac sodium channel. A consensus conference report published in 2002 described the diagnostic criteria for the Brugada syndrome and described the three distinct types of Brugada syndrome. In 2005, a second consensus report was published which described the risk stratification and approaches to therapy. Two specific types of ST-segment elevation, coved and saddleback, are observed in the Brugada syndrome, the former of which is reported to relate to a higher incidence of ventricular tachycardial ventricular fibrillation (VTNF) and sudden cardiac death.The objective of this paper is to review the genetics and the molecular biology behind the Brugada syndrome, the diagnostic criteria, including clinical and electrocardiographic characteristics, and current management.
Brugada综合征是一种遗传性心脏疾病,1992年由佩德罗和何塞普·Brugada首次描述,具有右束支传导阻滞、静息时胸前导联(V1-V3)持续性ST段抬高以及心源性猝死等多种心电图特征。导致Brugada综合征的基因异常与离子通道基因SCN5A的突变有关,该基因编码心脏钠通道的α亚基。2002年发表的一份共识会议报告描述了Brugada综合征的诊断标准,并阐述了Brugada综合征的三种不同类型。2005年发表了第二份共识报告,描述了风险分层和治疗方法。Brugada综合征中观察到两种特定类型的ST段抬高,即穹窿型和马鞍型,前者据报道与室性心动过速/心室颤动(VTNF)和心源性猝死的较高发生率有关。本文的目的是综述Brugada综合征背后的遗传学和分子生物学、诊断标准(包括临床和心电图特征)以及当前的治疗方法。