title: Autosomal dominant inheritance of left ventricular outflow tract obstruction.
abstract: Most nonsyndromic congenital heart malformations (CHMs) in humans are multifactorial in origin, although an increasing number of monogenic cases have been reported recently. We describe here four new families with presumed autosomal dominant inheritance of left ventricular outflow tract obstruction (LVOTO), consisting of hypoplastic left heart (HLHS) or left ventricle (HLV), aortic valve stenosis (AS) and bicuspid aortic valve (BAV), hypoplastic aortic arch (HAA), and coarctation of the aorta (CoA). LVOTO in these families shows a wide clinical spectrum with some family members having severe anomalies such as hypoplastic left heart, and others only minor anomalies such as mild aortic valve stenosis. This supports the suggestion that all anomalies of the LVOTO spectrum are developmentally related and can be caused by a single gene defect.
authors.affiliation: Department of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, The Netherlands. m.w.wessels@erasmusmc.nl
authors.forename: Marja W
authors.initials: MW
authors.lastname: Wessels
authors.forename: Rolf M F
authors.initials: RM
authors.lastname: Berger
authors.forename: Ingrid M E
authors.initials: IM
authors.lastname: Frohn-Mulder
authors.forename: Jolien W
authors.initials: JW
authors.lastname: Roos-Hesselink
authors.forename: Jeanette J M
authors.initials: JJ
authors.lastname: Hoogeboom
authors.forename: Grazia S
authors.initials: GS
authors.lastname: Mancini
authors.forename: Margot M
authors.initials: MM
authors.lastname: Bartelings
authors.forename: Ronald de
authors.initials: Rd
authors.lastname: Krijger
authors.forename: Jury W
authors.initials: JW
authors.lastname: Wladimiroff
authors.forename: Martinus F
authors.initials: MF
authors.lastname: Niermeijer
authors.forename: Paul
authors.initials: P
authors.lastname: Grossfeld
authors.forename: Patrick J
authors.initials: PJ
authors.lastname: Willems
mesh_terms: D000818:Animals; D018376:Cardiovascular Abnormalities / Q000235:genetics*; D005192:Family Health; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D006801:Humans; D008297:Male; D051379:Mice; D010375:Pedigree; D012196:Review Literature as Topic; D014694:Ventricular Outflow Obstruction / Q000235:genetics* / Q000473:pathology