title: Congenital heart malformations: aetiology and associations.
abstract: The causes of congenital heart malformations are complex and include a major contribution by genetic factors. These can be considered under the headings of chromosomal, single gene and multifactorial. Almost any degree of autosomal imbalance, whether a full trisomy or a tiny microdeletion, can cause a cardiac malformation. Recent research has identified several developmental genes which play an important role in cardiac formation: these are discussed with regard to laterality, septation and vascular morphogenesis. Hypothetical 'polygenes', which may contribute to non-syndromal 'multifactorial' cardiac malformations have yet to be identified. Well-known cardiac malformation syndrome associations are described and simple guidelines are presented to help in the assessment and investigation of an affected neonate who has additional multiple dysmorphic features.
authors.affiliation: Department of Clinical Genetics, City Hospital, Hucknall Road, Nottingham NG5 1PB, UK. paul_brennan@hotmail.com
authors.forename: P
authors.initials: P
authors.lastname: Brennan
authors.forename: I D
authors.initials: ID
authors.lastname: Young
mesh_terms: D006330:Heart Defects, Congenital / Q000150:complications / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics; D006801:Humans; D007231:Infant, Newborn; D017410:Practice Guidelines as Topic