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Curr Opin Pediatr. 1999 Oct;11(5):437-43.

Recent advances in understanding the genetic etiology of congenital heart disease.

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  • Division of Cardiology, The Children's Hospital of Philadelphia, Pennsylvania 19104-4318, USA.


The genetic etiologies of multiple cardiovascular disorders have been identified recently. For the most part, familial cardiomyopathic, vascular, or arrhythmogenic disorders have been studied given the opportunity to identify the disease gene by linkage analyses, positional cloning, and analysis of candidate genes. Given that structural congenital heart disease rarely occurs in the context of large families, alternative approaches to understand the possible genetic etiologies have been taken. In particular, molecular evaluations of genetic syndromes in which cardiac defects are a cardinal feature are providing new insights into disease-related genes and developmental pathways. The identification of rare families with multiple affected members also has provided some insight into the genetic contribution to structural congenital heart defects. This review highlights the newest findings on the genetic etiology or implications in each of the subcategories of congenital cardiovascular disorders, and will provide the reader with both a brief overview and update. Particular note will be made of the genotype/phenotype analyses of hypertrophic cardiomyopathy and the long QT syndromes, as well as the identification of new disease-related genes for dilated cardiomyopathy, idiopathic ventricular fibrillation, and structural heart disease.

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