Which heart defect is associated with Down syndrome?

The endocardial cushion defect, also known as an atrioventricular septal defect, is specifically associated with Down syndrome (trisomy 21). This type of congenital heart defect occurs when there is a failure in the fusion of the heart's septal structures, leading to a combination of atrial septal and ventricular septal defects, as well as issues with the mitral and tricuspid valves.

Children with Down syndrome frequently exhibit various congenital heart defects, and the endocardial cushion defect is particularly common among them. The presence of this defect can significantly impact the child's cardiovascular health and development, making early detection and management essential for optimal outcomes.

While other defects such as atrial septal defects and ventricular septal defects can also occur in individuals with Down syndrome, endocardial cushion defects are specifically recognized for their strong association with this genetic condition.