Structural and functional genetic disorders of the great vessels and outflow tracts.
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.
Bee
Katharine J
KJ
Center for Molecular Cardiology, Greenberg Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA.
Wilkes
David
D
Devereux
Richard B
RB
Lerman
Bruce B
BB
Dietz
Harry C
HC
Basson
Craig T
CT
D001808:Blood Vessels / Q000002:abnormalities* / Q000378:metabolism*; D004594:Electrophysiology; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D006330:Heart Defects, Congenital / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D010641:Phenotype; D015398:Signal Transduction; D016212:Transforming Growth Factor beta / Q000378:metabolism
D016212:Transforming Growth Factor beta