Perinatal Cardiology-Part 2

Genetics and Congenital Heart Disease

Author(s): Patricia Santana Correia

Pp: 145-163 (19)

DOI: 10.2174/9789811466557120010011

* (Excluding Mailing and Handling)


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.

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