Insights into the genetic basis of congenital heart disease

Cell Mol Life Sci. 2006 May;63(10):1141-8. doi: 10.1007/s00018-005-5532-2.


Cardiovascular malformations are the most common type of birth defect and result in significant mortality worldwide. The etiology for the majority of these anomalies remains unknown. Advances in the characterization of the molecular pathways critical for normal cardiac development have led to the identification of numerous genes necessary for this complex morphogenetic process. This work has aided the discovery of an increasing number of single genes being implicated as the cause of human cardiovascular malformations. This review summarizes normal cardiac development and outlines the recent discoveries of the genetic causes of congenital heart disease.

Publication types

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

MeSH terms

  • Aorta / abnormalities
  • Aorta / physiopathology
  • Cardiovascular System / embryology*
  • Cardiovascular System / growth & development*
  • Heart Defects, Congenital / genetics*
  • Heart Septal Defects / genetics
  • Humans
  • Organogenesis
  • Pulmonary Artery / abnormalities
  • Pulmonary Artery / physiopathology