Brugada综合征诊断、遗传学及危险分层的研究进展

Diagnosis,Genetics and Risk Stratification of Brugada Syndrome

Brugada综合征(BrS)是一种严重的遗传性恶性心律失常病,临床特征多表现为多形性室性心动过速和心室颤动,引起患者晕厥甚至导致猝死。作为一种遗传性心脏病,BrS具有广泛的遗传异质性,同时还受到年龄、性别、家族史等的影响,目前尚无统一的标准来判断患者的疾病状态及预后结局。对BrS患者进行危险分层仍具有挑战性,大量研究表明风险评分不仅在识别患者心律失常和心源性猝死方面具有一定的作用,而且综合评分中包含临床症状、遗传、合并症、年龄及性别等因素可能有助于患者的危险分层,并指导患者个体化治疗。现就目前BrS诊断、遗传学及危险分层做简要综述。

Brugada syndrome(BrS)is a severe hereditary malignant arrhythmia with multiple clinical manifestations of pleomorphic ventricular tachycardia and ventricular fibrillation,causing syncope and even sudden death.As a hereditary heart disease,BrS has extensive genetic heterogeneity and is also affected by age,gender,family history,etc.As a result,there is currently no unified standard to judge the patient’s disease status and prognosis.Risk stratification of patients with BrS remains challenging.Numerous studies have shown that risk scores not only play a role in identifying patients with arrhythmia and sudden cardiac death,but also include factors such as clinical symptoms,heredity,comorbidity,age and gender in the comprehensive score,which may help stratify patients’risk and guide patient individualized treatment.Here is a brief review of the current diagnosis,genetics and risk stratification of BrS.