title: A genetic study of children with congenital heart defect.
abstract: Family history, anamnestic data concerning pregnancy and the incidence of minor and major malformations were examined in 213 children affected by congenital heart defect; a scoring system was elaborated for selecting patients for chromosomal study. The incidence of minor anomalies was not higher than among unselected healthy newborns; among children scoring 2 or more points there were two patients with chromosomal aberration and one with Noonan's syndrome. In 8% of 213 children major concomitant non-cardiac malformations were present. The incidence of congenital heart malformations among first-degree relatives amounted to 4.1%. Detection of familial cases is of utmost importance in genetic counselling.
mesh_terms: D000013:Congenital Abnormalities / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping