家族性房间隔缺损并房室传导阻滞一家系分析

Familial Atrial Septal Defect and Atrial Ventricular Block:A Pedigree Investigation

目的分析1个汉族人的家族性房间隔缺损并房室传导阻滞家系的表型和遗传模式。方法对家系成员行病史采集、体格检查、心电图及心脏超声检查,分析其临床特点,制作家系图谱,采用系谱法分析疾病遗传模式。结果家系成员5代78例,血缘关系成员55例,先天性心脏病患者16例。16例患者中房间隔缺损10例、房室传导阻滞12例、脑梗死6例、婴幼期死亡3例。所有家系成员均无先天性上肢畸形。结论该家系疾病主要表现为房间隔缺损和房室传导阻滞,遗传模式为常染色体显性遗传,经检索认为是目前国内最为明确的家族性房间隔缺损并房室传导阻滞的家系报道。

Objective To define the phenotypes of familial atrial septal defect and atrial ventricular block in a Han family to analyze its genetic model.Methods History-taking,physical examinations,electrocardiogram and echocardiography were performed to find out their characteristics and a pedigree made in a Han family.Disease genetic model of the family was analysis based on pedigree.Results A total of 78 family members in 5 generations were included and 16 diagnosed as congenital heart disease（10 with atrial septal defect,12 with atrioventricular block,6 with cerebral infarction,3 died at infancy）.No congenital upper extremity deformities were found in members of the family.Conclusion The family diseases are mainly atrial septal defect and atrioventricular block with a genetic model of autosomal dominant inheritance,which is currently the most definite report about familial atrial septal defect combined with atrioventricular block.