General Information of Disease (ID: DIS0VY1Z)

Disease Name Familial atrioventricular septal defect
Synonyms
ECD; AVSD; atrioventricular canal defect; AV septal defect; AVCD; atrioventricular septal defect; common AV canal; common atrioventricular canal; endocardial cushion defect; Atrioventricular Septal Defect
Definition
A spectrum of septal defects involving the atrial septum; ventricular septum; and the atrioventricular valves (tricuspid valve; bicuspid valve). These defects are due to incomplete growth and fusion of the endocardial cushions which are important in the formation of two atrioventricular canals, site of future atrioventricular valves.
Disease Hierarchy
DISMT2VZ: Cardiogenetic disease
DISQ5C5J: Heart septal defect
DIS0VY1Z: Familial atrioventricular septal defect