The epidemiology of cardiovascular defects, part I: a study based on data from three large registries of congenital malformations

Abstract

To analyze complex and noncomplex cardiac malformations regarding prevalence and in relation to demographic variables, we pooled data on infants (age 1 year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. Altogether, 12,932 infants had one or more congenital heart defects out of 4.4 million live births and stillbirths. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. As expected, definitions and ascertained conditions differed among each of the registries. The total rates for severe defects were similar (1.43 per 1,000), but differed for specific defects. Clear differences in epidemiological characteristics existed for specific defects; for example, severe cardiac defects sex ratios were significantly high for hypoplastic left heart syndrome, d-transposition of great vessels, double outlet right ventricle, total anoralous pulmonary venous return, tetralogy of Fallot, and significantly low for pulmonary atresia without ventricular septal defect and endocardial cushion defect. Few defects were similar for several epidemiological characteristics, but, for example, the combination of ventricular and atrial septal defects appeared equivalent with endocardial cushion defect under some circumstances, yet behaved differently with regard to associated noncardiovascular defects.