Genetics of conotruncal malformations: review of the literature and report of a consanguineous kindred with various conotruncal malformations

Am J Med Genet. 1990 Jul;36(3):353-5. doi: 10.1002/ajmg.1320360322.


Genetic predisposition in congenital heart disease is considered to be a component of multifactorial inheritance. Recently, monogenic inheritance in conotruncal malformations has been suggested. We describe a consanguineous kindred with various conotruncal malformations, the presence of which lends support to the idea that this spectrum of malformation is monogenically inherited. Theoretical background and experimental and clinical data are reviewed and discussed.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Consanguinity*
  • Female
  • Heart Defects, Congenital / genetics*
  • Humans
  • Infant, Newborn
  • Male
  • Pedigree