Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment

ISSN: 1875-5488 (Online)
ISSN: 1389-2029 (Print)

Volume 16, 6 Issues, 2015

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Current Genomics

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Christian Néri
Institute of Biology Paris-Seine
CNRS UMR 8256 and UPMC
Paris, 75005

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Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment

Current Genomics, 15(5): 390-399.

Author(s): Cecilia Vecoli, Silvia Pulignani, Ilenia Foffa and Maria Grazia Andreassi.

Affiliation: CNR-Institute of Clinical Physiology, Via Moruzzi 1, 56124 Pisa, Italy.


Congenital heart diseases (CHDs) are recognized as the most common type of birth malformations. Although recent advances in pre- and neonatal diagnosis as well as in surgical procedures have reduced the morbidity and mortality for many CHD, the etiology for CHD remains undefined. In non-syndromic and isolated (without a familial history or a Mendelian inheritance) forms of CHDs, a multifactorial pathogenesis with interplay between inherited and non-inherited causes is recognized. In this paper, we discuss the current knowledge of the potential molecular mechanisms, mediating abnormal cardiac development in non-syndromic and isolated CHD, including mutations in cardiac transcription factors, the role of somatic mutations and epigenetic alterations as well as the influence of gene-environment interactions. In the near future, the advent of high-throughput genomic technologies with the integration of system biology will expand our understanding of isolated, non-syndromic CHDs for their prevention, early diagnosis and therapy.


Congenital heart disease, CHD, Genetics, Epigenetics, Environment, Point mutations, Methylation, microRNA.

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Article Details

Volume: 15
Issue Number: 5
First Page: 390
Last Page: 399
Page Count: 10
DOI: 10.2174/1389202915666140716175634

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