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

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

Volume: 15 Issue: 5

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

Affiliation:

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

Abstract: 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.

Cite this article as:

Vecoli Cecilia, Pulignani Silvia, Foffa Ilenia and Andreassi Grazia Maria, Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment, Current Genomics 2014; 15 (5) . https://dx.doi.org/10.2174/1389202915666140716175634