title: A large pedigree with valvuloseptal defects.
abstract: A large family with congenital heart disease is described. The pattern of inheritance suggests an autosomal dominant trait with high penetration, although the morphologic phenotype is quite variable, including Ebstein's anomaly, cleft mitral leaflet, bicuspid aortic valve, and atrioventricular canal.
authors.affiliation: Klinik und Poliklinik fur Innere Medizin II, University of Regensburg, Germany.
authors.forename: H
authors.initials: H
authors.lastname: Schunkert
authors.forename: U
authors.initials: U
authors.lastname: Bröckel
authors.forename: E P
authors.initials: EP
authors.lastname: Kromer
authors.forename: D
authors.initials: D
authors.lastname: Elsner
authors.forename: H J
authors.initials: HJ
authors.lastname: Jacob
authors.forename: G A
authors.initials: GA
authors.lastname: Riegger
mesh_terms: D002648:Child; D002675:Child, Preschool; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006343:Heart Septal Defects / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree