Perinatal Cardiology-Part 2

Perinatal Cardiology-Part 2

In Perinatal Cardiology, fetal cardiology experts provide key information on tools for fetal evaluation through echocardiography / cardiac ultrasonography, with a primary focus on the nature and ...
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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 dysmorphia.


Congenital heart defects, Genetics, Investigation.


Department of Medical Genetics, Fernandes Figueira, Institute, Oswaldo Cruz Foundation (IFFFIOCRUZ), Rio de Janeiro-RJ, Brazil.