Wehrens X H T, Doevendans P A
Neth Heart J. 2004 Apr;12(4):165-172.
The congenital long-QT syndrome is a potentially life-threatening condition characterised clinically by prolonged QT intervals, syncope and sudden cardiac death. The abnormally prolonged repolarisation is the result of mutations in genes encoding cardiac ion channels. The diagnosis of long-QT syndrome is based on clinical, electrocardiographic, and genetic criteria. Beta-blocking therapy is important in the treatment of long-QT syndrome, although pacemakers and implantable cardioverter defibrillators (ICD) are useful in certain categories of patients. In the near future, mutation-specific treatment will probably become a novel approach to this potentially lethal syndrome. Drug-induced long-QT syndrome has been associated with silent mutations and common polymorphisms in potassium and sodium channel genes associated with congenital long-QT syndrome. Genetic screening for such mutations and polymorphisms may become an important instrument in preventing drug-induced 'torsades de pointes' arrhythmias in otherwise asymptomatic patients.
先天性长QT综合征是一种潜在的危及生命的疾病，临床特征为QT间期延长、晕厥和心源性猝死。异常延长的复极化是编码心脏离子通道的基因突变的结果。长QT综合征的诊断基于临床、心电图和遗传学标准。β受体阻滞剂治疗在长QT综合征的治疗中很重要，尽管起搏器和植入式心脏复律除颤器（ICD）对某些类型的患者有用。在不久的将来，针对特定突变的治疗可能会成为治疗这种潜在致命综合征的新方法。药物性长QT综合征与先天性长QT综合征相关的钾通道和钠通道基因的沉默突变及常见多态性有关。对这些突变和多态性进行基因筛查可能会成为预防无症状患者发生药物性“尖端扭转型室性心动过速”心律失常的重要手段。
