Structural and functional genetic disorders of the great vessels and outflow tracts Academic Article uri icon


MeSH Major

  • Blood Vessels
  • Genetic Diseases, Inborn
  • Heart Defects, Congenital


  • Development of the aorta and pulmonary artery is a complex process involving multiple molecular genetic pathways that modulate morphogenesis of the outflow tracts and the anastomosis of branch vessels. Recent genetic studies of the cardiovascular system demonstrate that congenital and adult onset progressive disorders of the great vessels such as aneurysms are components of generalized vascular, cardiac, and extracardiovascular syndromes. Current paradigms suggest that aortic disease is founded in patterning anomalies of the conotruncus that occur in utero. These aberrations can be consequences of genetic aberrations in transcriptional regulation of signal transduction both within and outside the developing great vessels.

publication date

  • November 2006



  • Academic Article



  • eng

Digital Object Identifier (DOI)

  • 10.1196/annals.1383.002

PubMed ID

  • 17182942

Additional Document Info

start page

  • 256

end page

  • 69


  • 1085