Faculty Collaboration Database

A large pedigree with valvuloseptal defects. Am J Cardiol 1997 Oct 01;80(7):968-70

Date

11/05/1997

Pubmed ID

9382022

DOI

10.1016/s0002-9149(97)00560-2

Scopus ID

2-s2.0-0342602064 (requires institutional sign-in at Scopus site)   11 Citations

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.

Author List

Schunkert H, Bröckel U, Kromer EP, Elsner D, Jacob HJ, Riegger GA

MESH terms used to index this publication - Major topics in bold

Child
Child, Preschool
Female
Heart Defects, Congenital
Heart Septal Defects
Humans
Male
Mutation
Pedigree