Genetics and Congenital Heart Disease
Pp. 145-163 (19)
Patricia Santana Correia
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
Congenital heart defects, Genetics, Investigation.
Department of Medical Genetics, Fernandes Figueira, Institute, Oswaldo Cruz Foundation (IFFFIOCRUZ), Rio de Janeiro-RJ, Brazil.