A large pedigree with valvuloseptal defects

Am J Cardiol. 1997 Oct 1;80(7):968-70. doi: 10.1016/s0002-9149(97)00560-2.


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.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Child
  • Child, Preschool
  • Female
  • Heart Defects, Congenital / genetics*
  • Heart Septal Defects / genetics
  • Humans
  • Male
  • Mutation
  • Pedigree