Abstract
The genetic basis of congenital heart disease, an important form of cardiovascular disease in the young, is being increasingly recognized. Using a combination of human molecular genetic studies and developmental models in several animal species, significant advances in the understanding of normal cardiac development and the pathogenesis of cardiac malformations are being made. Here we review congenital heart disease due to single gene defects identified by human genetic studies, genotype–phenotype correlations and insights into pathogenesis resulting from studies in model systems. The future promises that these complementary approaches will inform clinical management and provide the means to develop new diagnostic and therapeutic approaches to congenital heart disease.
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