【摘要】 目的　了解中国人先天性长 QT综合征的临床和心电图表现及在突变热点 KVL QT1 上有无突变。方法　对 2 0个家系 71例先天性长 QT综合征 ( long QT syndrome,L QTS)的临床及心电图资料进行分析 ,并对其中 10个家系及 6个散发病例共 48例 ,采用聚合酶链反应—单链构相多态性( PCR— SSCP)方法检测 KVL QT1 基因跨膜编码区 S2～ S4及 S6的突变。　结果　根据诱发的原因不同 ,L QTS可分为儿茶酚胺依赖型和长间歇依赖型 ,在中国人先天性 L QTS中亦存在长间歇依赖型 ,且发病率并不低 (占 L QTS的 12 .5 0 % ) ;L QTS的心电图上除 QTc延长外 ,T波电交替 ,T波切迹 ,TU融合 ,和 RR间期延长在症状发作时均较常见。结论　 QTc不是诊断 L QTS的“金标准”;未发现 KVL QT1检测区域内的基因突变更多还原

【Abstract】 Objective to assess the clinical and electrocardiographic manifestations of Chinese LQTS patients,and mutation in KVLQTS 1 gene. Methods Clinical findings and electrocardiograms from 71 LQTS patients belonging to 20 families were collected.Forty eight patients including 42 from 10 LQTS families and 6 sporadic patients were brought together for screening for KVLQT 1 mutations by polymerase chain reacting single strand conformation polymorphism (PCR SSCP).Analyses were focused on the region S2～S4 and S6. Results Depending on inducing factors,LQTS can be divided into two groups:adrenaline dependent and long interval dependent forms.Long interval dependent form also exists in inherited LQTS Chinese patients (12 50% of LQTS).In addition to QT prolongation on the surface ECG in LQTS,T wave alternans,T wave notching,TU fusion and RR interval prolongation are common findings when syncope or ventricular tachycardia occurs. Conclusion QTc is not the diagnositic “gold standard”for LQTS.No mutation in the membrane span region S2～S4 and S6 of KVLQT 1 was found in any family in this series.更多还原