Molecular mechanisms of ventricular hypoplasia

Cold Spring Harb Symp Quant Biol. 2002;67:121-5. doi: 10.1101/sqb.2002.67.121.


We have established the beginnings of a road map to understand how ventricular cells become specified, differentiate, and expand into a functional cardiac chamber (Fig. 5). The transcriptional networks described here provide clear evidence that disruption of pathways affecting ventricular growth could be the underlying etiology in a subset of children born with malformation of the right or left ventricle. As we learn details of the precise mechanisms through which the critical factors function, the challenge will lie in devising innovative methods to augment or modify the effects of gene mutations on ventricular development. Because most congenital heart disease likely occurs in a setting of heterozygous, predisposing mutations of one or more genes, modulation of activity of critical pathways in a preventive fashion may be useful in averting disease in genetically susceptible individuals.

Publication types

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

MeSH terms

  • Animals
  • Basic Helix-Loop-Helix Transcription Factors
  • Body Patterning / genetics
  • DNA-Binding Proteins / deficiency
  • DNA-Binding Proteins / genetics
  • Gene Expression Regulation, Developmental
  • Heart Defects, Congenital / embryology
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / physiopathology
  • Heart Ventricles / abnormalities
  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins / genetics
  • Homeodomain Proteins / physiology
  • Humans
  • Hypoplastic Left Heart Syndrome / embryology
  • Hypoplastic Left Heart Syndrome / genetics*
  • Hypoplastic Left Heart Syndrome / physiopathology
  • Mice
  • Mice, Knockout
  • Models, Cardiovascular
  • Muscle Proteins*
  • Transcription Factors / deficiency
  • Transcription Factors / genetics
  • Xenopus Proteins*
  • Zebrafish Proteins


  • Basic Helix-Loop-Helix Transcription Factors
  • DNA-Binding Proteins
  • HAND2 protein, human
  • Hand1 protein, mouse
  • Hand2 protein, mouse
  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins
  • Muscle Proteins
  • NKX2-5 protein, human
  • Nkx2-5 protein, mouse
  • SMYD1 protein, human
  • Smyd1 protein, mouse
  • Transcription Factors
  • Xenopus Proteins
  • Zebrafish Proteins
  • hand2 protein, zebrafish
  • helix-loop-helix protein, eHAND