Atrioventricular defect-blepharophimosis-radial and anal defect syndrome

A congenital heart malformation characterized by abnormalities in the anatomic structures that relate to the endocardial cushions. These abnormalities can include defects in the lower part of the atrial septum and the ventricular septum and lack of separation of the mitral and tricuspid valves.

Disease Alternative Name

endocardial cushion defect
common av canal
av septal defect
common atrioventricular canal
atrioventricular septal defect
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