Consanguineous Marriages and Congenital Heart Disease in Pakistan
DOI:
https://doi.org/10.46568/bios.v5i2-3-4.168Keywords:
Consanguinity, congenital heart diseases, relatives, pedigree.Abstract
Objective: Congenital heart disease (CHD) is a set of isolate or combination of heart malformations that may or may not cause cyanosis (bluish discoloration of the skin) indicating poor oxygen status in effected patients. CHD represents a wide range of heritability from chromosomal abnormality to single gene defects to multifactorial pattern of inheritance particularly VSD, ASD, and AVSD. Consanguinity may increase the homozygosity of recessive genes causing copy number variation (CNV) in the disease. Methods: The present study was conducted in National Institute of Cardiovascular Disease (NICVD) during the year 2010 - 2015. Ethical approval was obtained before initiation of the study. A total 1640 diagnosed patients with CHD were included. Patients or their guardians were interviewed using a written questionnaire and their consents were obtained. Data collection form included detailed history regarding relationship of marriage, dietary, medical status during pregnancy such as smoking, infection (e.g. rubella), diabetes mellitus or hypertension etc. Pedigrees were drawn for selected families for further analysis. Results: The relative risk of CHD in first degree relatives is 3.2 and the tendency of having higher frequency (3-4 times) than in general population the consanguinity was found to be the highest in Punjabi (47.3%), followed by Balochi (40.28%) patients of unknown ethnicity (36.8%), Sindhi (34.2%) and Urdu speaking (31.4%). Conclusion: Our study will help provide some clues to the direction of exploration of this malformation especially in Pakistani population, where higher rates of consanguinity and higher prevalence of various forms of CHDs.
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