先天性心脏病家系资料的收集和分析

Collection and analysis in pedigrees of congenital heart disease

目的:通过对先天性心脏病家系资料的收集分析其内在关系,为探索遗传学机制提供有利条件。方法:2009年1月至2014年6月在贵州省人民医院就诊的先天性心脏病患儿及其亲属,凡一个家系中有2个及2个以上先天性心脏病患者均作为研究对象,进一步详细询问先天性心脏病家族史及致病因素问卷调查,对确诊的先天性心脏病家系进行分析。结果:收集到42个先天性心脏病家系,共计91人患病。12个双胎家系中同卵双胎为10个家系,2个同卵双胎家系心脏表型不一致,其心脏表型1胎为法洛四联症,1胎为室间隔缺损。同胞家系(不包括双胎)共计10个家系,同胞中患复杂性先天性心脏病的有7个家系。42个家系中一级亲属心脏表型一致的有15个家系(35.71%);二级亲属心脏表型一致的有2个家系。家系病种以房间隔缺损、室间隔缺损和法洛四联症多见。危险因素问卷调查中发现先心病家系中母亲孕早期先兆流产史的发生率高于散发性先心病,42个先天性心脏病家系20人次发生先兆流产,110个散发先天性心脏病例15人次发生孕早期先兆流产,通过单因素卡方检验比较两者有明显差异(χ~2=11.81,P<0.01),家系中先兆流产主要以复杂性先天性心脏病多见。结论:先天性心脏病具有家族聚集现象;同卵双胎的心脏表型可不一致;先证者与一、二级亲属间心脏表型不完全一致;先天性心脏病家系中先兆流产史的发生率高于散发性先天性心脏病人群,先兆流产的发生主要以复杂性先天性心脏病多见,推测先兆流产的发生可能受遗传因素的影响;通过先天性心脏病家系资料的收集和分析,将为探索遗传学机制提供有利条件和保障。

Objective：To provide advantages for exploration of genetic factors of congenital heart disease（CHD） through collection and analysis of pedigrees. Methods：All the probands of CHD were diagnosed in Guizhou Provincial People＇s Hospital during January 2009 to June 2014. The family in which more than two members having CHD was adopted,and was analyzed when more detailed in- vestigation of family history and risk factors were obtained. Results：Forty-two families of CHD were adopted in which 91 cases were suffered from CHD. There were 10 monozygotic twins and 2 dizygotic twins in 12 twin families,two pairs of monozygotic twins were found to have different phenotypes,one birth was diagnosed as Tetralogy of Fallot（TOF） and the other was ventricular septal defect （VSD）. Siblings（not including twins） suffering from CHD contain 10 families in which 7 families were diagnosed of complex CHD. The coincidental cardiac phenotype among the first-degree relatives was identified in 15 twins families （15/42,35.71%） and among the second-degree relatives,the number was 2（2/42,4.76%）. ASD ,VSD and TOF is the most in pedigrees of congenital heart disease. Survey found that prevalence of threatened abortion history in pedigrees was higher than that in sporadic CHD, In early pregnancy, 20 cases were threatened abortion history in 42 families of CHD and 15 cases were as same as in 110 cases of sporadic CHD（χ2= 11.81, P〈0.01 ）, and the abortion was mainly occurred in complex CHD. Conclusion ：The collection and analysis of CHD pedigrees show family aggregation. The monozygotic twin cardiac phenotype can be inconsistent. The cardiac phenotype of first-degree and second-degree relatives is not fully consistent with their probands. The cardiac phenotype of first-degreeand second-degree relatives is not fully consistent with their probands. There is an increased incidence of threatened abortion in early pregnancy in patients with familial CHD when compared with sporadic CHD,and most of the threatened abortions are occurred in complex CHD, which suggests that the occurrence of threatened abortion is predominantly affected by genetic factors. The collection and analysis of prdigrees can provide advantages for exploration of genetic factors of CHD.