Morphology and morphogenesis of atrioventricular septal defect with common atrioventricular junction.

For many years, the lesions now often described as atrioventricular septal defects were considered to represent atrioventricular canal malformations or endocardial cushion defects. It was also long recognized that patients with the so-called ostium primum defect should be included in this category. The phenotypic feature of these hearts is the presence of a common atrioventricular junction, as opposed to separate right and left atrioventricular junctions. The presence of the common atrioventricular junction underscores the associated phenotypic features, such as the presence of a trifoliate left atrioventricular valve, which has no resemblance to a cleft mitral valve; unwedging of the subaortic outflow tract; and disproportion between the inlet and outlet dimensions of the left ventricle. These features are comparable in patients having the so-called partial, intermediate, and complete variants of the malformation. Anatomical differentiation depends on the morphology of the leaflets of the common atrioventricular valve that bridge the ventricular septum. If these bridging leaflets are fused one to the other, then there are dual orifices, rather than a common orifice, within the common atrioventricular junction. The relationships of the bridging leaflets to the septal structures determine the potential for shunting across the atrioventricular septal defect, which can occur at atrial and ventricular levels or exclusively at either atrial or ventricular level. Rarely, the atrioventricular septal defect may close spontaneously. Recent evidence from studies of cardiac development shows that rather than being an endocardial cushion defect, the malformation results from failure of ingrowth into the developing heart from the dorsal mesenchymal tissues.