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Genetics of Congenital Heart Disease: Past and Present

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Abstract

Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

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Acknowledgements

The present work was partially supported by the Research Project No 27/11.12.2013 and financed by University of Medicine and Pharmacy, Tîrgu Mureş, Romania.

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Authors and Affiliations

  1. Institute of Cardiovascular Diseases and Transplantation, Clinic of Pediatric Cardiology, University of Medicine and Pharmacy Tîrgu Mureş, 50 Gh Marinescu St, 540136, Tirgu Mures, Romania

    Iolanda Muntean & Rodica Togănel

  2. Clinic of Cardiology, University of Medicine and Pharmacy Tîrgu Mureş, Tirgu Mures, Romania

    Theodora Benedek

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  1. Iolanda Muntean
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  2. Rodica Togănel
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  3. Theodora Benedek
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Correspondence to Rodica Togănel.

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Muntean, I., Togănel, R. & Benedek, T. Genetics of Congenital Heart Disease: Past and Present. Biochem Genet 55, 105–123 (2017). https://doi.org/10.1007/s10528-016-9780-7

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  • DOI: https://doi.org/10.1007/s10528-016-9780-7

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