目的:对广西地区先天性心脏病(congenital heart disease,CHD)高发家系进行筛查,以进一步研究CHD的遗传方式.方法:收集广西地区CHD患者及其亲属的资料,对一个家系中有≥2例CHD患者的高发家系绘制家系图谱,对其先证者及一、二级亲属成员逐个筛查,并填写CHD核心高发家系登记表,进而对高发家系进行遗传性分析.结果:共收集140例CHD患者,高发家系49例.高发家系中一、二级亲属CHD发生率为6.29％(71/779),其中一级亲属的发生率为20.60％(41/199),二级亲属为5％(30/580),一、二级亲属发生率比较差异有统计学意义(x2=42.59,P＜0.001).结论:广西地区CHD家系调查中有家族聚集现象,其亲属的发生率高低与先证者血缘关系近远相关,与先证者血缘关系越近的亲属发生率越高.%Objective: To screen out the families with high risk of congenital heart disease (CHD) in Guangxi Zhuang region, and then to investigate the hereditary mode CHD. Methods: The information of families that were with more than one CHD patient was collected, then drew the maps of pedigree, checked the CHD probands as well as the first and second degree of the family members, filled in the forms of questionnaire, and analyzed the heredity of CHD. Results: Information from 140 CHD patients and 49 families with high risk of CHD were collected. The prevalence of CHD among the first- and second-degree members in the high-risk families was 6. 29% (71/779). The prevalence of CHD among the first-degree family members was 20.60% (41/199), among the second-degree was 5. 00% (30/580), and the difference between the two groups was statistically significant (^z=42. 59, P <0. 001). Conclusion: The prevalence of CHD in Guangxi Zhuang region shows the pattern of familial aggregation. CHD incidence among the members in high-risk family is related to the kinship to proband, I. E. the closer relation the higher CHD incidence.
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