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目的研究中国遗传性长QT综合征(LQTS)患者的临床特点及LQTS最常见的基因KCNQ1和KCNH2突变。方法应用聚合酶链反应和测序分析77个遗传性LQTS家系,筛查了LQTS致病基因KCNQ1和KCNH2,观察临床表现和心电图改变。结果77例先证者心电图表现为LQT1者24例、LQT2者42例、LQT3者3例,8例心电图表现不典型。年龄(27.6±16.4)岁。QTc(561±70)ms,发病年龄(17.6±14.7)岁。晕厥触发因素包括运动、情绪激动和铃声刺激等。目前已经发现了4KCNQ1突变和7KCNH2突变,其中6个为首次发现。结论LQT2为中国最常见的LQTS;本组发现KCNQ1和KCNH2各1个新突变;中国LQTS患者心电图表现和临床特点与欧美LQT患者有所不同。
Objective To investigate the clinical features of patients with Chinese hereditary long QT syndrome (LQTS) and the most common mutations of KCNQ1 and KCNH2 in LQTS. Methods 77 hereditary LQTS pedigrees were analyzed by polymerase chain reaction and sequencing. The pathogenicity genes KCNQ1 and KCNH2 of LQTS were screened. The clinical manifestations and ECG changes were observed. Results Among the 77 probands, 24 were LQT1, 42 were LQT2, and 3 were LQT3. The electrocardiogram of 8 cases was not typical. Age (27.6 ± 16.4) years old. QTc (561 ± 70) ms, age of onset (17.6 ± 14.7) years. Syncope trigger factors include exercise, emotional excitement and ring tones and so on. Up to now, 4KCNQ1 mutation and 7KCNH2 mutation have been found, of which 6 are the first to be found. Conclusions LQT2 is the most common LQTS in China. One new mutation of KCNQ1 and KCNH2 was found in this study. The electrocardiogram and clinical features of LQTS patients in China were different from those of LQT patients in Europe and America.