Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment
Cecilia Vecoli, Silvia Pulignani, Ilenia Foffa and Maria Grazia Andreassi
AbstractCongenital heart diseases (CHDs) are recognized as the most common type of birth malformations. Although the 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 CHDs remains undefined. In non-syndromic and isolated (without a familial history or a Mendelian inheritance) forms of CHDs, a multifactorial pathogenesis with interplays 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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