中文摘要：

目的为先天性心脏病（CHD）监测干预、遗传研究提供资料和参考。方法对广西各地市医院确诊的CHD患者140例（简称先证者）及其血缘亲属进行调查,了解其年龄、性别、民族、病种等情况,并采集外周静脉血提取DNA,绘制高发家系谱图。每1个CHD患者确定1个CHD核心家系,1个核心家系内有2个或2个以上CHD患者则为高发家系。结果 140例CHD中,男性患者比率为57.86%,略高于女性（42.14%）,但差异无统计学意义（P〉0.05）;室间隔缺损发病率较高（51.43%）,其次为房间隔缺损（23.57%）。140个CHD核心家系中高发家系49个（35.00%）。高发家系亲属患者与先证者的病种构成差异无统计学意义（P〉0.05）,完全一致的有15个家系（30.61%）。结论 CHD有家族聚集现象,但亲属患者的病种与先证者不一定完全一致;遗传因素在CHD的发生中起重要作用。

英文摘要：

Objective To provide the reference materials for the intervention and genetic research of congenital heart disease （CHD）. Methods One hundred and forty patients with CHD who were confirmed in county hospital（ abbr. proband） and their blood relatives were involved to a investigation including the items of their age, sex, nationality, disease category,etc. Peripheral blood samples were obtained for DNA extraction, and the graph of pedigree with high incidence was drawn. Each CHD patient confirmed a nuclear family, and the nuclear family with more than two CHD patients was defined as the pedigree with high incidence of CHD. Results Of 140 CHD cases,the male took the part of 57.86%, higher than the women of 42.14%, there was no significant difference between them （ P 〉 O. 05 ） ; The incidence of ventricular septal defect （VSD） （51.43 % ） was higher than that of atrial septal defect （ASD） （23.57 % ）. Forty-nine families were of high incidence in 140 nuclear families （35.00%）. There was no statistical difference in the constituent ratio of disease category between the probands and their relatives （P 〉 0.05 ）, and 15 families were consistent （30.61%）. Conclusion Familial aggregation is common for CHD, while the relatives were not exactly with the same disease as their probands. Genetic factors play an important role in the occurrence of CHD.