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Genetic Contribution to Congenital Heart Disease (CHD)

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Abstract

Congenital heart defects (CHD) are the most common congenital problems in neonates. The basis for CHD is multifactorial, involving genetic and environmental components. The elucidation of genetic components remains difficult because it is a genetically heterogeneous disease. Currently, the major identified genetic causes include chromosomal abnormalities, large subchromosomal deletions/duplications, and point mutations. However, much more remains to be unraveled. An important insight from the research on the genetics of CHD is that any change at the genetic level that alters the dosage of genes required in any process during heart development results in a developmental defect. The use of conventional gene identification (linkage analysis and direct targeted sequencing) methods followed by the rapid advancements in high-throughput technologies (copy number variant platforms, SNP arrays, and next-generation sequencing) has identified an extensive list of genetic causes. However, the most common presentation of CHD is in the form of sporadic cases. Therefore, it is important to identify their underlying genetic cause. In this review, we revisit the causal genetic factors of CHD and discuss the clinical implications of research in the field.

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Acknowledgement

Prof. Philippa Talmud, Center for Cardiovascular Genetics, Institue of Cardiovascular Sciences, University College London, UK is acknowledged for the critical revision of the review for English, grammar, and punctuation.

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We received no specific funding for this review.

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Authors and Affiliations

  1. Department of Microbiology and Molecular Genetics, University of the Punjab, Lahore, 54590, Pakistan

    NA Shabana & Saleem Ullah Shahid

  2. The Women University Multan, Multan, Pakistan

    Uzma Irfan

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Shabana, N., Shahid, S.U. & Irfan, U. Genetic Contribution to Congenital Heart Disease (CHD). Pediatr Cardiol 41, 12–23 (2020). https://doi.org/10.1007/s00246-019-02271-4

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