Structural and functional genetic disorders of the great vessels and outflow tracts

Ann N Y Acad Sci. 2006 Nov:1085:256-69. doi: 10.1196/annals.1383.002.

Abstract

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 types

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

MeSH terms

  • Blood Vessels / abnormalities*
  • Blood Vessels / metabolism*
  • Electrophysiology
  • Genetic Diseases, Inborn / genetics*
  • Genetic Diseases, Inborn / metabolism
  • Genetic Diseases, Inborn / pathology*
  • Heart Defects, Congenital / genetics*
  • Heart Defects, Congenital / metabolism
  • Heart Defects, Congenital / pathology*
  • Humans
  • Phenotype
  • Signal Transduction
  • Transforming Growth Factor beta / metabolism

Substances

  • Transforming Growth Factor beta