Molecular Genetics of Congenital Heart Disease

  • Abigail S. Carey
  • Bruce D. Gelb
Reference work entry


The goal of this chapter is to review the genetic basis of congenital heart disease (CHD). While the etiology of CHD is thought to be multifactorial, this chapter primarily highlights specific mutations that have been found to cause CHD. As techniques for detecting genomic changes in children with CHD continue to improve and such technology becomes available on a clinical basis, researchers and clinicians alike stand to gain a better understanding of the genetic changes that underlie CHD. In order to best comprehend its molecular basis and the larger complexities of cardiovascular genetics, it is fundamental to first review normal human cardiac development and the particular genes that drive healthy human cardiac development. Following this section, currently available genetic testing modalities will be reviewed. Finally, specific genes/loci implicated in syndromic and isolated CHD as well as genetic syndromes caused by single gene defects will be reviewed. This will include Alagille, Holt–Oram, Noonan, Char, and CHARGE syndromes.


Congenital Heart Disease Turner Syndrome Williams Syndrome Noonan Syndrome Heart Tube 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Further Reading

  1. Garg V. Insights into the genetic basis of congenital heart disease. Cell Mol Life Sci. 2006;63:1141–8.PubMedCrossRefGoogle Scholar
  2. Gelb BD. Genetic basis of syndromes associated with congenital heart disease. Curr Opin Cardiol. 2001;16:188–94.PubMedCrossRefGoogle Scholar
  3. Huang JB, Liu YL, Sun PW, et al. Molecular mechanisms of congenital heart disease. Cardiovasc Pathol. 2010;19:183–93.CrossRefGoogle Scholar
  4. Nemer M. Genetic insights into normal and abnormal heart development. Cardiovasc Pathol. 2008;17:48–54.PubMedCrossRefGoogle Scholar
  5. Pierpont ME, Basson CT, Benson DW, et al. Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 2007;115:3015–38.PubMedCrossRefGoogle Scholar
  6. Richards AA, Garg V. Genetics of congenital heart disease. Curr Cardiol Rev. 2010;6:91–7.PubMedCrossRefGoogle Scholar
  7. Schott JJ, Benson DW, Basson CT, et al. Congenital heart disease caused by mutations in the transcription factor NKX2-5. Science. 1998;281:108–11.PubMedCrossRefGoogle Scholar
  8. Tomita-Mitchell A, Maslen CL, Morris CD, et al. GATA4 sequence variants in patients with congenital heart disease. J Med Genet. 2007;44:779–83.PubMedCrossRefGoogle Scholar
  9. Vissers LE, van Ravenswaaij CM, Admiraal R, et al. Mutations in a new member of the chromodomain gene family cause CHARGE syndrome. Nat Genet. 2004;36:955–7.PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media New York 2013

Authors and Affiliations

  • Abigail S. Carey
    • 1
  • Bruce D. Gelb
    • 2
  1. 1.Department of PediatricsMount Sinai School of MedicineNew YorkUSA
  2. 2.Mount Sinai School of MedicineNew YorkUSA

Personalised recommendations