A large pedigree with valvuloseptal defects.
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.
Schunkert
H
H
Klinik und Poliklinik fur Innere Medizin II, University of Regensburg, Germany.
Bröckel
U
U
Kromer
E P
EP
Elsner
D
D
Jacob
H J
HJ
Riegger
G A
GA
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