Genetic aspects of atrioventricular septal defects

Am J Med Genet. 2000 Winter;97(4):289-96.


Formation of the atrioventricular canal (AVC) results from complex interactions of components of the extracellular matrix. In response to signaling molecules, endothelial/mesenchymal transformations are crucial to normal development of the AVC. Atrioventricular septal defects (AVSDs) can result from arrest or interruption of normal endocardial cushion development. The presence of AVSDs has been associated with chromosome abnormalities, laterality or left-right axis abnormalities, and a variety of syndromes. An AVSD susceptibility gene has been identified in a large kindred with many affected members. Studies of transcription factors and signaling molecules in heart development over the past decade are paving the way for our understanding of the heterogeneous mechanisms of causation of AVSDs.

MeSH terms

  • Abnormalities, Multiple / embryology
  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / pathology
  • Animals
  • Body Patterning / genetics
  • Chromosome Aberrations / embryology
  • Chromosome Aberrations / pathology
  • Chromosome Disorders
  • Chromosome Mapping
  • Chromosomes, Human / genetics
  • Chromosomes, Human / ultrastructure
  • Disease Models, Animal
  • Down Syndrome / pathology
  • Endocardial Cushion Defects / embryology
  • Endocardial Cushion Defects / epidemiology
  • Endocardial Cushion Defects / genetics*
  • Fetal Heart / pathology
  • Genetic Heterogeneity
  • Humans
  • Mesoderm
  • Mice
  • Morphogenesis / genetics
  • Spleen / abnormalities
  • Syndrome
  • Trisomy