COUSIN MARRIAGES: ONE OF THE NEGLECTED CAUSES OF CONGENITAL HEART DISEASE: A CROSS-SECTIONAL STUDY

Abstract

Background: Objective: Methods: Congenital anomalies represent a significant global health concern, notably as a major contributor to birth defects and infant mortality. A primary factor implicated in their occurrence is marriage between blood relatives. The practice of cousin marriages across generations demonstrates a strong link to the development of congenital anomalies. This study aims to explore the association between parental consanguinity and CHD (congenital heart disease) among paediatric patients referred from nearby districts of Khyber Pakhtunkhwa to tertiary care hospitals in Peshawar. This descriptive cross-sectional study on 200 admitted paediatric patients with confirmed congenital heart disease from Khyber Pakhtunkhwa province was conducted over four months (March-June 2024) at a tertiary care hospital in Peshawar, Pakistan. Mothers of the enrolled children, receiving care at M.T.I. settings of Lady Reading Hospital and Hayatabad Medical Complex, Peshawar, were individually interviewed using a planned proforma after obtaining permission and providing study information in the local language. Result: In this cross-sectional study of CHD cases, a near-equal gender distribution was observed, with males comprising 50.5% and females 49.5%. A notable proportion of the study population (69%) reported consanguinity, with first-cousin marriages being the predominant form (64.5%). Ventricular Septal Defect (VSD) was identified as the most prevalent type of CHD, accounting for 32% of the cases, followed by Tetralogy of Fallot (TOF) at 17.5%. A statistically significant positive correlation (r = 0.165, p < 0.05) showed that increased parental consanguinity was linked to a higher chance of CHD diagnosis. Conclusion:  This study highlights a significant association between multigenerational cousin marriages and congenital anomalies. Furthermore, it reveals a high prevalence of parental consanguinity within the study population, with first-cousin unions being the most common form. Notably, a statistically significant correlation was found, confirming a strong link between consanguinity and the occurrence of congenital heart disease (CHD).