误诊为癫痫的先天性长QT综合征1例报告  

Congenital Long QT Syndrome Misdiagnosed as Epilepsy:a Case Report

作　　者：冯佳丽 周云国[1,4] 胡金柱 段君凯[1,4] 许飞[1,4] FENG Jia-li;ZHOU Yun-guo;HU Jin-zhu;DUAN Jun-kai;XU Fei(Department of Cardiology,Jiangxi Children’s Hospital;Medical College,Nanchang University;Department of Cardiology of the Second Affiliated Hospital,Nanchang University;Jiangxi Provincial Healthcare Key Laboratory of Children’s Cardiovascular Diseases,Nanchang 330006,China)

机构地区：[1]江西省儿童医院心内科 [2]南昌大学医学部 [3]南昌大学第二附属医院心内科 [4]江西省卫生健康儿童心血管疾病重点实验室,南昌330006

出　　处：《实用临床医学（江西）》2023年第5期31-34,共4页Practical Clinical Medicine

基　　金：江西省卫健委科技计划项目(202130919);江西省中医药管理局科技计划项目(2022B138)。

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。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.

关 键 词：先天性长QT间期综合征 癫痫 植入式心律转复除颤器 尖端扭转型室性心动过速 

分 类 号：R725.4[医药卫生—儿科]