Atrioventricular septal defect epidemiology and demographics
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Epidemiology and demographics
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.
References
- ↑ Rosenthal GL, Wilson PD, Permutt T, Boughman JA, Ferencz C (1991). "Birth weight and cardiovascular malformations: a population-based study. The Baltimore-Washington Infant Study". Am J Epidemiol. 133 (12): 1273–81. PMID 2063835.
- ↑ Digilio MC, Marino B, Cicini MP, Giannotti A, Formigari R, Dallapiccola B (1993). "Risk of congenital heart defects in relatives of patients with atrioventricular canal". Am J Dis Child. 147 (12): 1295–7. PMID 8249947.