title: Congenital heart disease: the crossroads of genetics, epigenetics and environment.
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.
authors.affiliation: CNR, Institute of Clinical Physiology, Pisa, Italy.
authors.forename: Cecilia
authors.initials: C
authors.lastname: Vecoli
authors.affiliation: CNR, Institute of Clinical Physiology, Pisa, Italy.
authors.forename: Silvia
authors.initials: S
authors.lastname: Pulignani
authors.affiliation: CNR, Institute of Clinical Physiology, Massa, Italy;
authors.forename: Ilenia
authors.initials: I
authors.lastname: Foffa
authors.affiliation: CNR, Institute of Clinical Physiology, Pisa, Italy ; Fondazione Toscana G.Monasterio, Massa, Italy.
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Andreassi
keywords: CHD; Congenital heart disease; Environment; Epigenetics; Genetics; Methylation; Point mutations; microRNA.