Malformation patterns in children with congenital heart disease.

We prospectively examined 1016 infants and children with congenital heart disease (CHD) to detect additional malformation patterns. They were divided into two major groups. In the first group (n = 881), the CHD either occurred alone or was accompanied by a major extracardiac malformation (n = 68, 7.7%). In the second group (n = 135, 13.3%), the CHD was part of a malformation syndrome, embryopathy, association, or complex. In one fourth of the 56 chromosomal syndromes, the underlying cytogenetic anomaly differed from trisomy 21. Fourteen of the 30 children with non-chromosomal malformation syndromes had Noonan's syndrome. Thirteen of the 27 embryopathies were due to rubella infection, but alcohol embryopathy occurred nearly as often (n = 10). In those children with malformation associations (n = 16) seven showed cardiofacial association. Three of the five children with malformation complexes had Ivemark disease. In this study, underlying disorders were found in one of eight children with CHD, a considerably higher percentage than that reported in earlier studies.