Atrial septal defect, ventricular septal defect, and coarctation of the aorta in sibs: an autosomal recessive disorder?

Am J Med Genet. 1989 Feb;32(2):182-3. doi: 10.1002/ajmg.1320320208.


We report on two sisters with secundum atrial septal defect, perimembranous ventricular septal defect, and coarctation of the aorta. Identical anatomical malformations were verified by echocardiography and at operation. No other affected relatives were identified. We suggest that this is a specific, possibly recessively inherited type of complex cardiac malformation.

Publication types

  • Case Reports

MeSH terms

  • Aortic Coarctation / genetics*
  • Aortic Coarctation / surgery
  • Child, Preschool
  • Chromosome Aberrations / genetics*
  • Chromosome Disorders
  • Echocardiography
  • Female
  • Genes, Recessive*
  • Heart Septal Defects, Atrial / genetics*
  • Heart Septal Defects, Atrial / surgery
  • Heart Septal Defects, Ventricular / genetics*
  • Heart Septal Defects, Ventricular / surgery
  • Humans
  • Infant, Newborn
  • Risk Factors