Dr. Mary Ella Pierpont (M.D., Ph.D.) is Associate Professor of Pediatrics at the University of Minnesota, Minneapolis, and Director of the Ray and Hattie Anderson Center for the Study of Hereditary Cardiac Disease. She is a pediatric cardiologist and clinical geneticist and Director of Medical Genetics at the Children's Hospital, St. Paul. Dr. Pierpont has a longtime research interest in genetic aspects of cardiovascular malformations and syndromes. She edited The Genetics of Cardiovascular Disease in 1987, one of the first books to emphasize the importance of genetic aspects of cardiovascular malformations.
Genetic aspects of atrioventricular septal defects
Version of Record online: 9 MAY 2001
Copyright © 2001 Wiley-Liss, Inc.
American Journal of Medical Genetics
Special Issue: Heart Developments and the Genetics Aspects of Cardiovascular Malformations
Volume 97, Issue 4, pages 289–296, Winter 2000
How to Cite
Pierpont, M. E. M., Markwald, R. R. and Lin, A. E. (2000), Genetic aspects of atrioventricular septal defects. Am. J. Med. Genet., 97: 289–296. doi: 10.1002/1096-8628(200024)97:4<289::AID-AJMG1279>3.0.CO;2-U
- Issue online: 23 OCT 2002
- Version of Record online: 9 MAY 2001
- Manuscript Accepted: 15 DEC 2000
- Manuscript Received: 30 NOV 2000
- atrioventricular septal defect;
- endocardial cushions;
- atrioventricular septal defect susceptibility gene;
- atrioventricular canal defect;
- endocardial cushion defect;
- Down syndrome, heterotaxy
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. Am. J. Med. Genet. (Semin. Med. Genet.) 97:289–296, 2000. © 2001 Wiley-Liss, Inc.