先天性长QT综合征家系的临床特点

Clinical characteristics of congenital long QT syndrome families

的 通过对 3个先天性长QT综合征 (longQTsyndrome,LQTS)家系的调查 ,研究其发病情况、临床和心电图特点 ,推测其相应的基因型。方法 按常规采集 3个家系成员的临床病史 ,进行体格检查 ,采集静息心电图 ,测量QT间期和较正的QT间期。结果 3个家系 4 3例中有 15例LQTS患者 ,11例可疑诊断。临床表现和心电图各异。结论 家系 1、家系 2和家系 3中LQTS患者的临床和心电图表现符合LQT2、LQT1和LQT3,可能为HERG、KVLQT1、和SCN5A的基因突变所致。

Objective To elucidate the clinical manifestati on s and electrocardiogram characteristics of congenital long QT syndrome families and try to find out the genotype of the long QT syndrome(LQTS) patients. Methods The routine clinical check up and ECG recordings we re done for the 3 family members. Both QT interval and QTc were measured. Diagno stic criteria for LQTS were defined by Schwartz. Results Fifteen family members were identified as with LQTS and 11 members with intermediate probability to LQTS. The clinical manifestatio ns and ECG characteristics were different from each other. Conclusion The clinical manifestations and ECG characterist ics of LQTS patients from family 1,family 2 and family 3 correspond with LQT2, L QT1 and LQT3, which is caused by HERG,KVLQT1 and SCN5A gene mutation.