Key result
Conditional deletion of the BMP receptor Alk3 from venous pole second heart field cells led to impaired formation of the dorsal mesenchymal protrusion and a completely penetrant ostium primum defect.
BMP signaling via the Alk3 receptor in the second heart field is essential for the proper development of the dorsal mesenchymal protrusion and prevention of atrioventricular septal defects.
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Animal data implicate Alk3-BMP signaling in AVSD pathogenesis; leaves open translation to human congenital defects or therapies.
Briggs et al. (2013) studied Atrioventricular septal defect. Conditional deletion of the BMP receptor Alk3 from venous pole SHF cells was evaluated on Formation of the dorsal mesenchymal protrusion and ostium primum defect. Conditional deletion of the BMP receptor Alk3 from venous pole second heart field cells led to impaired formation of the dorsal mesenchymal protrusion and a completely penetrant ostium primum defect.
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