title: Genetic and Developmental Basis of Cardiovascular Malformations.
abstract: Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1% to 5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of the causation of CVMs is a prerequisite for prevention. Cardiac development is a complex, multistep process of morphogenesis that is under genetic regulation. Although the genetic contribution to CVMs is well recognized, the genetic causes of human CVMs are still identified infrequently. This article discusses the key genetic concepts characterizing human CVMs, their developmental basis, and the critical developmental and genetic concepts underlying their pathogenesis.
authors.affiliation: Department of Cell Biology & Anatomy, University of South Carolina School of Medicine, 6439 Garners Ferry Road, Columbia, SC 29208, USA. Electronic address: mazhar@iu.edu.
authors.forename: Mohamad
authors.initials: M
authors.lastname: Azhar
authors.affiliation: Department of Cell Biology & Anatomy, University of South Carolina School of Medicine, 6439 Garners Ferry Road, Columbia, SC 29208, USA; Department of Medical and Molecular Genetics, Indiana University School of Medicine, 1044 West Walnut Street, Indianapolis, IN 46202, USA. Electronic address: stware@iu.edu.
authors.forename: Stephanie M
authors.initials: SM
authors.lastname: Ware
mesh_terms: D018376:Cardiovascular Abnormalities / Q000196:embryology / Q000235:genetics; D044127:Epigenesis, Genetic; D018628:Gene Dosage; D018507:Gene Expression Regulation, Developmental; D005838:Genotype; D006330:Heart Defects, Congenital / Q000196:embryology / Q000235:genetics*; D006801:Humans; D010641:Phenotype
keywords: Congenital heart defects; Congenital heart disease; Development; Gene dosage