title: Mouse models of congenital cardiovascular disease.
abstract: Congenital heart defects occur in nearly 1% of human live births and many are lethal if not surgically repaired. In addition, the genetic contribution to congenital or acquired cardiovascular diseases that are silent at birth, but progress to cause significant disease in later life is being increasingly appreciated. Heart development and structure are highly conserved between mouse and human. The discoveries that are being made in this model system are highly relevant to understanding the pathogenesis of human heart defects whether they occus in isolation, or in the context of a syndrome. Many of the genes required for cardiovascular development were discovered fortuitously when early lethality or structural defects were observed in mouse mutants generated for other purposes, and relevant genes continue to be defined in this manner. Candidate genes for this process are being identified by their roles other species, or by their expression in pertinent tissues in mice. In this review, I will briefly summarize heart development as currently understood in the mouse, and then discuss how complementary studies in mouse and human have identified genes and pathways that are critical for normal cardiovascular development, and for maintaining the structure and function of this organ system throughout life.
authors.affiliation: School of Medicine, University of Utah, Salt Lake City, UT 84112, USA.
authors.forename: Anne
authors.initials: A
authors.lastname: Moon
mesh_terms: D000818:Animals; D019521:Body Patterning / Q000235:genetics / Q000502:physiology; D018376:Cardiovascular Abnormalities / Q000473:pathology*; D002319:Cardiovascular System / Q000196:embryology; D004195:Disease Models, Animal; D047108:Embryonic Development / Q000235:genetics; D006801:Humans; D051379:Mice; D008822:Mice, Transgenic; D008954:Models, Biological; D009154:Mutation / Q000502:physiology; D015398:Signal Transduction / Q000235:genetics