The genetics of cardiac birth defects

Semin Cell Dev Biol. 2007 Feb;18(1):132-9. doi: 10.1016/j.semcdb.2006.12.005. Epub 2006 Dec 20.


Congenital heart disease likely results from a complex mixture of environmental and genetic factors. Recent work has elucidated rare single gene mutations that cause a variety of cardiac defects, but the etiologies of more common disease remains unknown. Here, we review the known genetic causes of cardiac malformations and discuss future approaches for addressing sporadic congenital heart disease as a complex trait.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Heart / embryology
  • Heart Defects, Congenital / etiology
  • Heart Defects, Congenital / genetics*
  • Humans
  • Morphogenesis / genetics
  • Risk Factors
  • Syndrome