Transcription factor pathways and congenital heart disease

Curr Top Dev Biol. 2012;100:253-77. doi: 10.1016/B978-0-12-387786-4.00008-7.


Congenital heart disease is a major cause of morbidity and mortality throughout life. Mutations in numerous transcription factors have been identified in patients and families with some of the most common forms of cardiac malformations and arrhythmias. This review discusses transcription factor pathways known to be important for normal heart development and how abnormalities in these pathways have been linked to morphological and functional forms of congenital heart defects. A comprehensive, current list of known transcription factor mutations associated with congenital heart disease is provided, but the review focuses primarily on three key transcription factors, Nkx2-5, GATA4, and Tbx5, and their known biochemical and genetic partners. By understanding the interaction partners, transcriptional targets, and upstream activators of these core cardiac transcription factors, additional information about normal heart formation and further insight into genes and pathways affected in congenital heart disease should result.

Publication types

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

MeSH terms

  • Animals
  • Heart / embryology
  • Heart Defects, Congenital / genetics
  • Heart Defects, Congenital / metabolism*
  • Humans
  • Myocardium / cytology
  • Signal Transduction*
  • Transcription Factors / genetics
  • Transcription Factors / metabolism*


  • Transcription Factors