Advances in cardiovascular genetics and embryology: role of transcription factors in congenital heart disease

Curr Opin Pediatr. 2000 Oct;12(5):497-500. doi: 10.1097/00008480-200010000-00015.


In spite of tremendous advances in diagnosis and treatment of cardiovascular disease in the young, our understanding of its cause is still incomplete. Recent studies have reported pleiotropic cardiac malformations resulting from mutations in transcription factors, a family of proteins known to play important roles in many aspects of development. Further evaluation of these important causes of cardiovascular disease in the young promises new insight into embryology of cardiac development and improved understanding of the pathophysiologic basis of cardiovascular disease in the young.

MeSH terms

  • Cardiovascular Diseases / genetics
  • Heart / embryology
  • Heart Defects, Congenital / diagnosis
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / physiopathology
  • Humans
  • Molecular Biology
  • Pedigree
  • Risk Factors
  • Transcription Factors / genetics*


  • Transcription Factors