title: Malformation patterns in children with congenital heart disease.
abstract: 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.
mesh_terms: D000015:Abnormalities, Multiple; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D005145:Face / Q000002:abnormalities; D006330:Heart Defects, Congenital / Q000150:complications* / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D011446:Prospective Studies; D013577:Syndrome