Departments of Experimental and Clinical Cardiology, Heart Center, Amsterdam UMC Location AMC, Amsterdam, The Netherlands.
Departments of Experimental and Clinical Cardiology, Heart Center, Amsterdam UMC Location AMC, Amsterdam, The Netherlands
Heart. 2022 May;108(9):668-675. doi: 10.1136/heartjnl-2020-318258. Epub 2021 Oct 14.
Brugada syndrome (BrS) is an inherited cardiac disorder, characterised by a typical ECG pattern and an increased risk of arrhythmias and sudden cardiac death (SCD). BrS is a challenging entity, in regard to diagnosis as well as arrhythmia risk prediction and management. Nowadays, asymptomatic patients represent the majority of newly diagnosed patients with BrS, and its incidence is expected to rise due to (genetic) family screening. Progress in our understanding of the genetic and molecular pathophysiology is limited by the absence of a true gold standard, with consensus on its clinical definition changing over time. Nevertheless, novel insights continue to arise from detailed and in-depth studies, including the complex genetic and molecular basis. This includes the increasingly recognised relevance of an underlying structural substrate. Risk stratification in patients with BrS remains challenging, particularly in those who are asymptomatic, but recent studies have demonstrated the potential usefulness of risk scores to identify patients at high risk of arrhythmia and SCD. Development and validation of a model that incorporates clinical and genetic factors, comorbidities, age and gender, and environmental aspects may facilitate improved prediction of disease expressivity and arrhythmia/SCD risk, and potentially guide patient management and therapy. This review provides an update of the diagnosis, pathophysiology and management of BrS, and discusses its future perspectives.
Brugada 综合征(BrS)是一种遗传性心脏病,其特征为典型的心电图模式和心律失常及心源性猝死(SCD)风险增加。BrS 在诊断、心律失常风险预测和管理方面都是一个具有挑战性的实体。如今,无症状患者代表了大多数新诊断的 BrS 患者,并且由于(遗传)家族筛查,其发病率预计会上升。由于缺乏真正的金标准,我们对遗传和分子病理生理学的理解进展受到限制,其临床定义随着时间的推移而不断变化。尽管如此,从详细和深入的研究中仍然不断出现新的见解,包括复杂的遗传和分子基础。这包括潜在的结构性基质的相关性日益得到认可。BrS 患者的风险分层仍然具有挑战性,特别是在无症状患者中,但最近的研究表明,风险评分可能有助于识别心律失常和 SCD 风险高的患者。开发和验证一种包含临床和遗传因素、合并症、年龄和性别以及环境因素的模型,可能有助于更好地预测疾病表达和心律失常/SCD 风险,并可能指导患者管理和治疗。本文综述了 BrS 的诊断、病理生理学和管理,并讨论了其未来前景。