Fresh fields and pathways new: recent genetic insights into cardiac malformation

Heart. 2009 Mar;95(6):442-7. doi: 10.1136/hrt.2006.105130.

Abstract

Cardiovascular malformations are the most common type of birth defect. Currently, only a fraction of cases have associated causative factors and little is known about the aetiology of the rest. Despite this, our understanding of normal and abnormal heart development continues to grow, a number of recent discoveries even challenging long-held concepts. In this review, we highlight some of this new knowledge, emphasising aspects that may be of interest to the clinician.

Publication types

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

MeSH terms

  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 22 / genetics
  • DiGeorge Syndrome / genetics
  • Heart Defects, Congenital / genetics*
  • Heart Septal Defects, Atrial / genetics
  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins / genetics
  • Humans
  • Mutation
  • Syndrome
  • T-Box Domain Proteins / genetics
  • Transcription Factors / genetics

Substances

  • Homeobox Protein Nkx-2.5
  • Homeodomain Proteins
  • NKX2-5 protein, human
  • T-Box Domain Proteins
  • T-box transcription factor 5
  • Transcription Factors