In the US, the prevalence of atrioventricular septal defects is between 3-5% in live births or about 0.19 per 1000 live births. The incidence of AVSD is higher in stillborn births, at a rate of approximately 7%. One explanation for this increase is this population’s propensity for chromosal and other anomalies. Of live births, approximately 45% of infants with Down syndrome and congenital heart disease have an atrioventricular canal defect. Atrioventricular septal defects are distributed about equal between males and females.^[1]

There is some evidence to suggest a potential link between atrioventricular septal defects and familial clustering. Approximately 14% of women with a common atrioventricular canal pass on the congenital heart disease to their children. In one analysis, 11.7% of children with atrioventricular septal defects had a family history of congenital heart disease^[2]

There is no epidemiological evidence to support any variation of incidence and prevalence based on race, sex or age. Onset is generally early in life, occurring within the first 6 weeks of life. In rare cases, patients can be asymptomatic during development and may experience a latent onset as cyanosis develops into a severe complication.

Cardiology