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Abstract：
Risk stratification of sudden death in patients with Brugada syndrome (BrS) is a controversial issue, and there is currently no consensus on the best method. Examination of data from the natural history of the disease is of fundamental importance and may help to identify relatives at risk. At the same time, study of the genetic mutations responsible for the disease may also contribute to risk stratification of the syndrome, enabling identification of asymptomatic relatives carrying mutations. This paper presents the case of a young man, aged 26, monitored as a pediatric cardiology outpatient from birth for a simple structural heart defect not requiring surgery. Analysis of the evolution of the patient\'s electrocardiogram revealed the appearance, at the age of 20, of a pattern compatible with type I BrS. Following an episode of syncope and induction of polymorphic ventricular tachycardia in the electrophysiological study, a cardioverter-defibrillator was implanted. One year later, a single shock terminated an episode of ventricular fibrillation. A molecular study of the SCN5A gene identified a rare mutation, c.3622G>T (p.Glu1208X), recently described and associated with more severe phenotypes in patients with BrS, as in the case presented.
摘要：
Brugada综合征（BrS）患者猝死的危险分层是一个有争议的问题，目前还没有关于最佳方法的共识。检查疾病自然史的数据至关重要，可能有助于识别有风险的亲属。同时,对导致该疾病的基因突变的研究也可能有助于该综合征的风险分层，能够识别携带突变的无症状亲属。本文介绍了一个年轻人的案例，26岁，从出生起就作为儿科心脏科门诊病人接受监测，原因是简单的结构性心脏缺陷，不需要手术。对患者心电图演变的分析显示，在20岁时，具有与I型BrS兼容的模式。在电生理研究中发生晕厥和诱发多形性室性心动过速之后，植入了心脏复律除颤器。一年后,一次电击终止了心室纤颤的发作.对SCN5A基因的分子研究发现了一种罕见的突变，c.3622G>T（p。Glu1208X),最近描述并与BrS患者更严重的表型相关，就像所介绍的情况一样。
