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Genetic Basis for Congenital Heart Disease: Revisited

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  • New genomic techniques have become widely available, dramatically changing our understanding of the causes of congenital heart disease (CHD) since the initial Scientific Statement on the genetic basis of CHD in 2007. These advances allow a more accurate definition of the etiologies of CHD in patients of all ages, including prenatal patients.
  • This updated statement highlights a comprehensive basis for interdisciplinary care for those with CHD and summarizes the state of knowledge on the genetic contributions to the etiology of CHD; it includes:
    • Recent advances in the understanding of copy number variants (CNVs), syndromes, RASopathies and heterotaxy/ciliopathies.
    • New research insights with CHD models that advance understanding of how future CHD research breakthroughs are likely to happen.
    • Information on new molecular testing techniques and their application to CHD.

Read the full article in Circulation

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