Ⅲ度房室传导阻滞一家族调查及致病基因研究

Investigation and pathogenic gene study of Ⅲ° atrioventricular block in a family

目的:调查一家族的III度房室传导阻滞及其可能的致病基因。方法:对一家族性房室传导阻滞患者家族的所有成员进行病史采集、体格检查、心电图及超声心动图等检查,分析其临床特点,制作家系图谱,采用外显子组测序及突变分析寻找可能的致病基因。结果:此家系含有22名成员,其中有6例(27.3%)发病,均表现为40岁左右开始出现心动过缓,逐渐演变为II度房室传导阻滞、最终发展成为III度房室传导阻滞,这6例患者均已行永久性起搏器植入术,根据遗传家系图谱提示此家族患者可能为常染色体不完全显性遗传。与亚洲健康人群进行基因比对发现,此家族性房室传导阻滞患者中有24个差异基因。结论:该家族性房室传导阻滞系常染色体不完全显性遗传,可能由一个或多个基因突变引起。

Objective：To investigate a family of III atrioventricular block（AVB）and detect its possible pathogenic genes.Methods：All members from a familial patients with AVB received medical history collection,physical examination,ECG and echocardiography etc.,their clinical characteristics were analyzed,family tree was made,and exome sequencing and mutation analysis were used to seek for possible pathogenic genes.Results：This family included22 members,and AVB occurred in six cases（27.3%）.All patients suffered from bradycardia in about 40 years old,then gradually progressed to II AVB,and eventually III AVB,the six patients have already received permanent pacemaker implantation.Their genetic family tree suggested that it may be incomplete autosomal dominant inheritance.Compared with Asian healthy population genes,there were 24 different genes detected in these patients with familial AVB.Conclusion：The family is familial atrioventricular block.And it′s incomplete autosomal dominant inheritance,which may be caused by one or multiple gene mutation.