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

Abstract

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.

Affiliation:

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