短QT综合征一家系的临床研究  

Clinical characteristics and treatment of a Chinese family with congenital short QT syndrome

作　　者：刘刚[1] 郭继鸿[1] 张萍[1] 李学斌[1] 孙雅逊[1] 

机构地区：[1]北京大学人民医院心脏中心,100044

出　　处：《中华心血管病杂志》2009年第3期248-252,共5页Chinese Journal of Cardiology

基　　金：基金项目：国家重点基础研究发展计划资助项目（2007CB512008）

摘　　要：目的探讨短QT综合征（SQTs）先证者及其家系的临床电生理特点和评估心脏性猝死风险并观察疗效。方法对包括先证者在内的14例家系成员进行常规临床检查、血电解质和心肌酶化验、心电图、24h动态心电图、心电图运动试验、超声心动图、X线胸片等检查，并对高危患者进行心内电生理检查。结果调查的14例家系成员中有4例早年心脏性猝死，4例确诊为SQTs（包括先证者及其两个女儿和一个儿子）。阳性患者体表12导联心电图表现为窦性心律下持续性QT间期缩短，QTc≤320ms，QT／QTp〈80％，T波高尖对称，伴ST段缩短。心脏结构均无明显异常。先证者进行了心内电生理检查，经右室流出道S1S2S3（400、250、140ms）刺激后诱发多形性室性心动过速、心室颤动并发生晕厥，后给予埋藏式自动复律除颤器置入治疗，随访6个月无明显异常。结论SQTs是一种少见的易发生恶性心律失常的遗传性疾病，高危患者置入埋藏式自动复律除颤器能有效预防猝死。Objective To observe the clinical characteristics and therapeutic efficacy of a Chinese family with congenital short QT Syndrome （SQTs）. Methods Fourteen family members including the proband were screened with routine clinical examination, serum electrolyte, serum myocardial enzymes, electrocardiography （ECG）, Holter recording, treadmill exercise test, ecbocardiography and chest radiograph. High risk patient received intracardiac electrophysiologieal study （EPS）. Results Among the fourteen family members, 4 members died of sudden cardiac death at young ages, 4 members including the proband and his two daughters and one son were diagnosed as SQTs with structurally intact hearts. Initial ECG in these subjects revealed sinus rhythm with a high peaked T wave, QTc interval ≤ 320 ms and QT/ QTp 〈 80%. The proband was a 45-year-old man presented with occasional dizziness and family history of sudden cardiac death. Polymorphic ventricular tacbyarrhytbmias and ventricular fibrillation as well as syncope were induced in this patient during programmed stimulation （ S1 = 400 ms,S2 = 250 ms, S3 = 140 ms ） from right ventricular outflow tract and a dual chamber Implantable Cardioverter Defibrillator （ICD） was implanted and the patient remained asymptomatic during the 6 months follow up. Conclusions SQTs could be presented as an inherited disorder with increased risk for arrhythmias and sudden cardiac death. ICD implantation is the first-choice therapy for high risk patients.

关 键 词：猝死 心脏 心电描记术 除颤器 植入型 短QT综合征 

分 类 号：R686[医药卫生—骨科学]