Congenital heart disease: emerging themes linking genetics and development

Curr Opin Genet Dev. 2013 Jun;23(3):352-9. doi: 10.1016/j.gde.2013.05.004. Epub 2013 Jun 20.


Although congenital heart disease (CHD) is the most common survivable birth defect, the etiology of most CHD remains unclear. Several lines of evidence from humans and vertebrate models have supported a genetic component for CHD, yet the extreme locus heterogeneity and lack of a distinct genotype-phenotype correlation have limited causative gene discovery. However, recent advances in genomic technologies are permitting detailed evaluation of the genetic abnormalities in large cohorts of CHD patients. This has led to the identification of copy-number variation and de novo mutations together accounting for up to 15% of CHD. Further, new strategies coupling human genetics with model organisms have provided mechanistic insights into the molecular and developmental pathways underlying CHD pathogenesis, notably chromatin remodeling and ciliary signaling.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Chromatin Assembly and Disassembly / genetics*
  • DNA Copy Number Variations / genetics*
  • Genetic Association Studies
  • Genome, Human
  • Heart Defects, Congenital / etiology
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Humans
  • Mutation / genetics*
  • Signal Transduction
  • Transcription Factors / genetics


  • Transcription Factors