Curr Probl Cardiol. 2021 Mar;46(3):100454. doi: 10.1016/j.cpcardiol.2019.100454. Epub 2019 Aug 23.
Brugada syndrome (BrS) was first described in 1992 as an aberrant pattern of ST segment elevation in right precordial leads with a high incidence of sudden cardiac death (SCD) in patients with structurally normal heart. It represents 4% ∼ 12% of all SCD and 20% of SCD in patients with structurally normal heart. The extremely wide genetic heterogeneity of BrS and other inherited cardiac disorders makes this new area of genetic arrhytmology a fascinating one. This review shows the state of art in diagnosis, management, and treatment of BrS focusing all the aspects regarding genetics and Preimplant Genetic Diagnosis (PGD) of embryos, overlapping syndromes, risk stratification, familial screening, and future perspectives. Moreover the review analyzes key points like electrocardiogram (ECG) criteria, the role of electrophysiological study (the role of ventricular programmed stimulation and the need of universal accepted protocol) and the importance of a correct risk stratification to clarify when implantable cardioverter defibrillator or a close follow-up is needed. In recent years, cardiovascular studies have been focused on personalized risk assessment and to determine the most optimal therapy for an individual. The BrS syndrome has also benefited of these advances although there remain several key points to be elucidated. We will review the present knowledge, progress made, and future research directions on BrS.
布鲁加达综合征（BrS）于 1992 年首次被描述为右胸前导联 ST 段抬高的异常模式，具有结构正常心脏患者发生心源性猝死（SCD）的高发生率。它占所有 SCD 的 4%~12%，占结构正常心脏患者 SCD 的 20%。BrS 和其他遗传性心脏病的遗传异质性极其广泛，使得这一新的遗传心律失常领域令人着迷。这篇综述重点介绍了 BrS 的诊断、管理和治疗的最新进展，包括遗传学和胚胎植入前基因诊断（PGD）、重叠综合征、危险分层、家族筛查以及未来展望等各个方面。此外，该综述还分析了一些关键点，如心电图（ECG）标准、电生理研究的作用（心室程控刺激的作用以及需要通用接受的方案）以及正确的危险分层的重要性，以明确何时需要植入式心脏复律除颤器或密切随访。近年来，心血管研究一直集中在个性化风险评估和确定个体的最佳治疗方法上。尽管仍有几个关键点需要阐明，但 BrS 综合征也从中受益。我们将综述 BrS 的现有知识、取得的进展以及未来的研究方向。
