Which genetic condition is frequently linked with congenital heart defects?

Down syndrome, also known as trisomy 21, is frequently associated with congenital heart defects. This genetic condition arises from the presence of an extra chromosome 21, which affects overall development. Children with Down syndrome commonly experience a variety of health challenges, including congenital heart defects, with estimates suggesting that approximately 40-50% of individuals with this condition may have a heart defect.

The types of heart defects often seen in Down syndrome include atrioventricular septal defects (AVSD) and ventricular septal defects (VSD), among others. The underlying mechanisms are related to abnormal cardiac development during embryogenesis, which has been observed to be influenced by the genetic anomalies present in Down syndrome.

Other genetic conditions mentioned, while associated with various health issues, either have a lower prevalence of congenital heart defects or are not as strongly linked as Down syndrome. For instance, Turner syndrome can involve heart defects, but they are less common compared to the prevalence found in Down syndrome. Klinefelter syndrome and Marfan syndrome are also related to cardiovascular abnormalities, but the specific association with congenital heart defects is not as pronounced as it is in Down syndrome. Thus, Down syndrome stands out as the genetic condition most frequently linked to congenital heart defects.