The complex relationship between genetic composition and environmental influences leading to congenital heart disease (CHD) is just beginning to be understood. From a clinical standpoint, however, there are several well- described genetic syndromes and nongenetic associations involving CHD, of which the pediatric clinician should be aware. Table 245.1 outlines the most commonly encountered genetic syndromes and nongenetic associations that are commonly seen with CHD.
A thorough cardiac evaluation and, in many cases, consultation with a pediatric cardiologist, is appropriate when patients are identified with one of these syndromes. Likewise, the practitioner should also consider the possibility of one of these syndromes or associations when these particular forms of CHD are identified. It is also important to be aware of progressive forms of CHD that may develop, as individuals with specific genetic syndromes age, such as hypertrophic cardiomyopathy in Noonan syndrome or mitral and aortic valve disease in Trisomy 21.
Bernier FP, Spaetgens R. The geneticist's role in adult congenital heart disease. Cardiology
Clin. 2006;24:557–569.
Freeman SB, Taft LF, Dooley KJ, et al. Population-based study of congenital heart defects in
Down syndrome. Am J Medl Genet. 1998;80(3):213–217.
Goldmuntz E. The genetic contribution to congenital heart disease. Pediatr Clin North Am.
2004;51:1721–1737.
Gøtzsche CO, Krag-Olsen B, Nielsen J, et al. Prevalence of cardiovascular malformations
and association with karyotypes in Turner's syndrome. Arch Dis Child. 1994;71(5):433–
436
Review other book chapters online related to Genetic Disease:
Copyright notice for book excerpts: Copyright © 2008 Lippincott Williams & Wilkins. All rights reserved.
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More About This Book:
Title: Avoiding Common Pediatric Errors Authors: Anthony D Slonim MD, DrPH; Lisa Marcucci MD Publisher: Lippincott Williams & Wilkins Copyright: 2008 ISBN: 0-7817-7489-6 
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