Developmental and genetic aspects of congenital heart disease

Curr Opin Cardiol. 1999 May;14(3):263-8. doi: 10.1097/00001573-199905000-00011.


Congenital heart defects (CHDs) are the result of abnormal cardiac mesoderm or cardiac neural crest development. The molecular cause of most congenital heart disease remains unknown, although numerous cardiac regulatory factors have recently been described. dHAND and eHAND are basic helix-loop-helix transcription factors expressed differentially in the right and left ventricles, respectively, and in the cardiac neural crest. Mice lacking dHAND have a hypoplastic right ventricle and abnormal development of vessels arising from the heart and cell death of craniofacial precursors. By searching for dHAND-dependent genes, a gene likely responsible for the cardiac and craniofacial defects associated with chromosome 22q11 deletion has been identified. A systematic dissection of molecular pathways involved in cardiogenesis should allow for further identification of genes responsible for CHD.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.
  • Review

MeSH terms

  • Adaptor Proteins, Vesicular Transport
  • Animals
  • Basic Helix-Loop-Helix Transcription Factors
  • Chromosome Deletion
  • Chromosomes, Human, Pair 22 / genetics
  • DNA-Binding Proteins / genetics
  • Gene Expression Regulation, Developmental
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / pathology
  • Humans
  • Intracellular Signaling Peptides and Proteins
  • Proteins / genetics
  • Transcription Factors / genetics
  • Zebrafish Proteins


  • Adaptor Proteins, Vesicular Transport
  • Basic Helix-Loop-Helix Transcription Factors
  • DNA-Binding Proteins
  • HAND2 protein, human
  • Intracellular Signaling Peptides and Proteins
  • Proteins
  • Transcription Factors
  • UFD1 protein, human
  • Zebrafish Proteins
  • hand2 protein, zebrafish
  • helix-loop-helix protein, eHAND