Evaluation of consanguinity as a risk factor for congenital heart diseases

Abstract

Background: Congenital heart disease (CHD) is the most common malformation in children. It is an important cause of infant mortality, long term morbidity and disability. There are multiple risk factors associated with CHDs, but in most of them cause and effect relationship has not been established till recently. Consanguinity as a risk factor has been studied by some workers with a small number of subjects hence requires to be evaluated through a study with a significant size of cohort. The objective of the study was to find out the association between parental consanguinity and the risk of CHDs among their off springs. Methods: This is a hospital based, comparative, cross sectional, observational study. 518 children with CHDs, confirmed by echocardiography were included as cases and 240 children without any obvious congenital anomaly matched for age and sex were taken as control. The following clinical observations were collected through questionnaires in a predesigned performa: maternal and paternal age at conception; parental consanguinity; maternal medical, gestational and obstetric history; and other birth defects. Results: Children from case and control groups were comparable with respect to age and sex at the inclusion in the study. Out of the total 758 study participants, 41 patients (5.41%) had parents who had a consanguineous marriage. Of these, 34 patients (6.56%) were cases and 7 (2.92%) were controls (P value was highly significant). Conclusions: Consanguinity in parental marriages confer an increased risk of CHDs in their off springs (p value <0.005).