CONGENITAL HEART DISEASES, A CONSEQUENCE OF CONSANGUINEOUS MARRIAGES IN PUNJAB, PAKISTAN

Abstract

Objectives: To find out the association of congenital heart diseases with inbreeding in Punjab, Pakistan. Methodology: This case control study was carried out at Department of Paediatric Cardiology, Faisalabad Institute of Cardiology (FIC) Faisalabad, Pakistan, from December 2019 to February 2020. A total of 768 subjects, 384 cases suffering from congenital heart disease (CHD) and 384 controls having no CHD, both confirmed on echocardiography, were enrolled in the study. Their parents were interviewed regarding age, gender, residential area and data was collected including parental marriage type (consanguineous/ non related) and presence or absence of congenital heart disease through questionnaire. Results: Among cases, 51.3 % were female with female to male ratio 1.05:1. As regard age, 85.7% (n=329) of the children among cases were below 5 years of age. As regard consanguinity, 66.4% (n=255) had consanguineous parents while 33.6% (n=129) of CHD children had parents who were un-related before marriage. Multivariate analysis showed parental consanguinity had strong association with CHD in children; odds ratio 5.84 (95% CI 4.2-7.99) with a P-value of <0.01.  Acyanotic CHD was present in 76.8% children (n=295) while 23.2 % had cyanotic CHD (n=89). Ventricular septal defect (VSD) was the most common CHD (32%) followed by atrial septal defect (18.2%) and PDA (13.5%). Conclusion: There is a remarkable association between inbreeding and CHD in Punjab, Pakistan.