Collection and analysis in pedigrees of congenital heart disease

Abstract:

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 sec－ond-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 pre－dominantly affected by genetic factors. The collection and anal－ysis of prdigrees can provide advantages for exploration of ge－netic factors of CHD.