Pediatric Arrhythmia Unit, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.
Cardiovascular Genetics Centre, University of Girona-IDIBGI, Girona, Spain.
Genet Med. 2016 Jan;18(1):3-12. doi: 10.1038/gim.2015.35. Epub 2015 Apr 23.
Brugada syndrome is a rare, inherited cardiac disease leading to ventricular fibrillation and sudden cardiac death in structurally normal hearts. Clinical diagnosis requires a Brugada type I electrocardiographic pattern in combination with other clinical features. The most effective approach to unmasking this diagnostic pattern is the use of ajmaline and flecainide tests, and the most effective intervention to reducing the risk of death is the implantation of a cardioverter defibrillator. To date, 18 genes have been associated with the disease, with the voltage-gated sodium channel α type V gene (SCN5A) being the most common one to date. However, only 30-35% of diagnosed cases are attributable to pathogenic variants in known genes, emphasizing the need for further genetic studies. Despite recent advances in clinical diagnoses and genetic testing, risk stratification and clinical management of patients with Brugada syndrome remain challenging.Genet Med 18 1, 3-12.
Brugada 综合征是一种罕见的遗传性心脏病，可导致结构正常的心脏发生心室颤动和心源性猝死。临床诊断需要结合其他临床特征，出现 Brugada 型 I 心电图模式。揭示这种诊断模式最有效的方法是使用阿义马林和氟卡尼试验，降低死亡风险最有效的干预措施是植入心脏复律除颤器。迄今为止，已有 18 个基因与该病相关，其中电压门控钠离子通道α型 V 基因（SCN5A）是迄今为止最常见的基因。然而，只有 30-35%的确诊病例归因于已知基因中的致病性变异，这强调了进一步进行遗传研究的必要性。尽管在临床诊断和基因检测方面取得了最近的进展，但 Brugada 综合征患者的风险分层和临床管理仍然具有挑战性。遗传医学 18 卷 1 期，第 3-12 页。
