Malformation patterns in children with congenital heart disease
H. H. Kramer, F. Majewski, H. J. Trampisch, S. Rammos and M. Bourgeois
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.
