【摘要】 目的 探讨先天性长QT间期综合征的临床意义。方法 回顾性分析1例病程初期误诊为癫痫的先天性长QT间期综合征病例资料。结果 患者女，11岁，因反复晕厥发作9次就诊。心电图提示QT间期延长、尖端扭转型室性心动过速，基因检测提示先天性长QT间期综合征2型，植入心律转复除颤器联合心得安口服治疗后未再发作晕厥。结论 对临床表现为癫痫的患者，需注意与先天性长QT间期综合征做鉴别诊断，基因检测有助于病因诊断，一经确诊，必须立即给予积极治疗，以免发生晕厥甚至猝死。更多还原

【Abstract】 Objective To investigate the clinical significance of congenital long QT syndrome.Methods The data of a case of congenital long QT syndrome misdiagnosed as epilepsy at the beginning of the course of the disease were retrospectively analyzed.Results The 11-year-old girl was presented to the hospital due to recurrent syncope(9 episodes).ECG showed QT interval prolongation and torsade de pointes ventricular tachycardia, and genetic detection suggested type 2 congenital long QT interval syndrome.No recurrence of syncope occurred after cardioverter defibrillator implantation and oral propranolol treatment.Conclusion For patients with clinical manifestations of epilepsy, it is necessary to pay attention to the differential diagnosis of congenital long QT interval syndrome.Genetic testing is helpful for etiological diagnosis.Once diagnosed, active treatment must be given immediately to avoid syncope and even sudden death.更多还原