Congenital Heart Disease: The Crossroads of Genetics, Epigenetics and Environment
Maria Grazia Andreassi.
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.
Keywords: Congenital heart disease, CHD, Genetics, Epigenetics, Environment, Point mutations, Methylation, microRNA.
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