Congenital defects are frequent, occurring in 2-3% of live births, with high
morbidity and mortality. Congenital heart defects are the most frequent, occurring in
1% of all live births. Most occur as isolated malformations, but approximately 1/3 are
part of a syndrome, usually of genetic etiology. The correct etiological diagnosis is
important for useful clinical follow-up and genetic counseling. Children born with
congenital heart defects should be carefully examined for other malformations and
dysmorphia.
Keywords: Congenital heart defects, Genetics, Investigation.
