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Consanguinity and the risk of congenital heart disease

Authors

  • Joseph T.C. Shieh,

    Corresponding author
    1. Division of Medical Genetics, Department of Pediatrics and Institute for Human Genetics, University of California San Francisco, San Francisco, California
    • Division of Medical Genetics, Department of Pediatrics, Institute for Human Genetics, University of California San Francisco, Box 0793, 513 Parnassus Avenue, San Francisco, CA 94143.

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  • Alan H. Bittles,

    1. Centre for Comparative Genomics, Murdoch University, Perth, Western Australia, Australia
    2. Edith Cowan University, Perth, Western Australia, Australia
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  • Louanne Hudgins

    1. Division of Medical Genetics and Department of Pediatrics, Stanford University School of Medicine, Stanford, California
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  • 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.

Abstract

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.

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