A genetic study of children with congenital heart defect.

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.