先天性长QT综合征七例的临床研究

目的 对1例先天性长QT综合征（long QT syndrome,LQTS)患者（先证者）所在的家族进行普查,研究该家族的发病情况及临床和心电图特点,推测其相应的表现型和基因型。方法 按常规采集26例家庭成员的临床病史,进行体格检查,并采集同步12导联心电衅,测量QT间期和校正的QT间期,采用Schwartz提出的评分标准作为LQTS的诊断标准。结果 26例中有7例（28%）长QT综合征患者,6例可疑诊断。发生晕厥的诱因均为情绪激动或体力劳动,心电图表现为QT间期延长,在发病前后延长得更加明显,T波宽大有切迹,多可见U波,病情严重的患者心电图表现更加典型,该家族中患者的首次发病年龄较在,预后好,没有1例发生猝死或未成年夭折。结论 该家族中LQTS患者的临床和心电图表现符合LQTS1或者LQTS2。基因型有可能为KVLQT1或者HERG基因的突变。

Clinical investigation of seven cases of congenital long QT syndrome from the same family pedigree

Objective To elucidate the clinical manifestations and electrocardiogram characteristics and try to lighten out the phenotype and genotype of the long QT syndrome (LQTS) family patients. Methods The routine clinical check and ECG recordings were done among 26 family members.Both QT interval and QTc were measured.Diagnostic criteria for LQTS were defined by Schwartz.Results Seven family members were identified as affected with LQTS and 6 members with intermediate probability to LQTS.Arrhythmic syncope often occurred in association with acute emotional and physical stress.ECG characteristics included the prolongation of QT interval,which was more obvious before and after syncopal attack,and a broad and notched T wave,U wave was noticed.All patients were rather old at the first episode occurrence and none of the family member experienced sudden death or death before grown up. Conclusions The clinical manifestations and ECG characteristics of LQTS patseufs from this reported family were corresponded with LQTS 1 or LQTS 2 which were caused by KVLQT 1 or HERG gene mutation.