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Familial risks of congenital heart defect assessed in a population‐based epidemiologic study

Familial risks of congenital heart defect assessed in a population‐based epidemiologic study Congenital heart defects (CHD) represent a heterogeneous group of disorders caused by chromosome abnormalities, mendelian disorders, teratogenic expo‐sures, and unknown etiologic mechanisms. A large group of various isolated defects is presumably multifactorial in origin. Previous studies of familial risks for specific anatomic defects obtained from clinical series may include significant biases and obscured pathogenic relationships. In this population‐based study we analyzed all cases of CHD in infants and a control birth cohort in the Baltimore‐Washington area. The rates of CHD were defined for first‐degree relatives of cases with isolated defects, grouped by a pathogenic classification scheme. Pre‐currence risks were found to vary among the groups, and risks for flow lesions were higher than previously reported. The sibling precurrence risk for hypoplastic left heart syndrome (13.5%) was not significantly different from that expected for an autosomal recessive mechanism; the risks for different types of ventricular septal defects (VSD) varied among mechanistic groups. The results indicate that the additive multifactorial model does not adequately account for the risks in all forms of isolated CHD of unknown etiology. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png American Journal of Medical Genetics Part A Wiley

Familial risks of congenital heart defect assessed in a population‐based epidemiologic study

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References (42)

Publisher
Wiley
Copyright
Copyright © 1987 Wiley Subscription Services, Inc., A Wiley Company
ISSN
1552-4825
eISSN
1552-4833
DOI
10.1002/ajmg.1320260411
pmid
3591826
Publisher site
See Article on Publisher Site

Abstract

Congenital heart defects (CHD) represent a heterogeneous group of disorders caused by chromosome abnormalities, mendelian disorders, teratogenic expo‐sures, and unknown etiologic mechanisms. A large group of various isolated defects is presumably multifactorial in origin. Previous studies of familial risks for specific anatomic defects obtained from clinical series may include significant biases and obscured pathogenic relationships. In this population‐based study we analyzed all cases of CHD in infants and a control birth cohort in the Baltimore‐Washington area. The rates of CHD were defined for first‐degree relatives of cases with isolated defects, grouped by a pathogenic classification scheme. Pre‐currence risks were found to vary among the groups, and risks for flow lesions were higher than previously reported. The sibling precurrence risk for hypoplastic left heart syndrome (13.5%) was not significantly different from that expected for an autosomal recessive mechanism; the risks for different types of ventricular septal defects (VSD) varied among mechanistic groups. The results indicate that the additive multifactorial model does not adequately account for the risks in all forms of isolated CHD of unknown etiology.

Journal

American Journal of Medical Genetics Part A – Wiley

Published: Apr 1, 1987

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