Genetic aspects of atrioventricular septal defects

Mary Ella M. Pierpont, Roger R. Markwald, Angela E. Lin

Research output: Contribution to journalReview articlepeer-review

63 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)289-296
Number of pages8
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Issue number4
StatePublished - 2000
Externally publishedYes


  • Atrioventricular canal defect
  • Atrioventricular septal defect
  • Atrioventricular septal defect susceptibility gene
  • Down syndrome, heterotaxy
  • Endocardial cushion defect
  • Endocardial cushions


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