The molecular genetics of congenital heart disease: a review of recent developments

Curr Opin Cardiol. 2010 May;25(3):192-7. doi: 10.1097/HCO.0b013e328337b4ce.


Purpose of review: Our understanding of the interactions of genes and pathways during heart development continues to expand with our knowledge of the genetic basis of congenital heart disease. Along with the discovery of specific genes that cause lesions, recent research has focused on the interactions of some previously identified genes. This review focuses on the progress made during the last year.

Recent findings: T-box, NK, and GATA transcription factors have known associations with a variety of syndromic and isolated congenital heart defects. Discovery of novel interactions of GATA and T-box transcription factors highlights the direction of recent research. In addition, the critical yet somewhat redundant roles of nkx2.5 and nkx2.7, along with the interaction of nkx2.7 with tbx20, have been elucidated. The contributions of still other transcription factor classes are being elucidated. Further understanding of 22q11.2 deletion and microduplication syndromes and their genetic interactions has also been studied. Recent work also highlights PTPN11 and NOTCH1 in Noonan syndrome.

Summary: The recent developments in the genetics of congenital heart disease are reviewed. In many cases, it is the novel interactions of previously known genes that highlight this year's developments. These interactions will ultimately lead to better understanding of downstream transcriptional or signaling pathways.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Heart Defects, Congenital / genetics*
  • Heart Septal Defects / genetics
  • Humans
  • Molecular Biology
  • Mutation*
  • Transcription Factors / genetics*
  • Transcription Factors / metabolism


  • Transcription Factors