In infants with atrioventricular canal defects, which genetic syndrome is often present?

Infants with atrioventricular canal defects are frequently associated with Trisomy 21, also known as Down syndrome. This genetic condition is characterized by the presence of an extra copy of chromosome 21, which plays a significant role in the development of various congenital heart defects, including the atrioventricular canal defect. These defects involve a combination of atrial and ventricular septal defects along with issues affecting the mitral and tricuspid valves, leading to a complex form of congenital heart disease.

The prevalence of congenital heart defects, particularly atrioventricular canal defects, is significantly higher in children with Trisomy 21 due to the abnormal development of the heart structures during embryonic development. Recognizing the association between this genetic syndrome and specific heart conditions helps in early diagnosis and management, often leading to improved outcomes for affected infants.

While other syndromes listed can be associated with various congenital anomalies, they are not as strongly linked to atrioventricular canal defects specifically as Trisomy 21 is.