TY - JOUR
T1 - Genetic aspects of atrioventricular septal defects
AU - Pierpont, Mary Ella M.
AU - Markwald, Roger R.
AU - Lin, Angela E.
PY - 2000
Y1 - 2000
N2 - 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.
AB - 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.
KW - Atrioventricular canal defect
KW - Atrioventricular septal defect
KW - Atrioventricular septal defect susceptibility gene
KW - Down syndrome, heterotaxy
KW - Endocardial cushion defect
KW - Endocardial cushions
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U2 - 10.1002/1096-8628(200024)97:4<289::AID-AJMG1279>3.0.CO;2-U
DO - 10.1002/1096-8628(200024)97:4<289::AID-AJMG1279>3.0.CO;2-U
M3 - Review article
C2 - 11376440
AN - SCOPUS:0034441195
SN - 0148-7299
VL - 97
SP - 289
EP - 296
JO - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
JF - American Journal of Medical Genetics, Part C: Seminars in Medical Genetics
IS - 4
ER -