How to Cite this Article: Shieh JTC, Bittles AH, Hudgins L. 2012. Consanguinity and the risk of congenital heart disease. Am J Med Genet Part A. 158A:1236–1241.
Consanguinity and the risk of congenital heart disease†
Article first published online: 9 APR 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part A
Volume 158A, Issue 5, pages 1236–1241, May 2012
How to Cite
Shieh, J. T.C., Bittles, A. H. and Hudgins, L. (2012), Consanguinity and the risk of congenital heart disease. Am. J. Med. Genet., 158A: 1236–1241. doi: 10.1002/ajmg.a.35272
- Issue published online: 18 APR 2012
- Article first published online: 9 APR 2012
- Manuscript Accepted: 26 DEC 2011
- Manuscript Received: 19 OCT 2011
- NIH NHLBI. Grant Number: K08 HL092970
- congenital heart defects;
- risk factors;
- genetic counseling
Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is less clear, particularly since the disease pathophysiology may involve genetic and environmental/epigenetic factors. In this study, we ask whether consanguinity affects one of the most common birth defects, congenital heart disease, and identify areas for further research into these birth defects, since consanguinity may now impact health on a near-global basis. A systematic review of consanguinity in congenital heart disease was performed, focusing on non-syndromic disease, with the methodologies and results from studies of different ethnic populations compared. The risks for congenital heart disease have been assessed and summarized collectively and by individual lesion. The majority of studies support the view that consanguinity increases the prevalence of congenital heart disease, however, the study designs differed dramatically. Only a few (n = 3) population-based studies that controlled for potential sociodemographic confounding were identified, and data on individual cardiac lesions were limited by case numbers. Overall the results suggest that the risk for congenital heart disease is increased in consanguineous unions in the studied populations, principally at first-cousin level and closer, a factor that should be considered in empiric risk estimates in genetic counseling. However, for more precise risk estimates a better understanding of the underlying disease factors is needed. © 2012 Wiley Periodicals, Inc.