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a Center for Molecular Cardiology, Greenberg Division of Cardiology, Department of Medicine, Weill Medical College of Cornell University, New York, New York 10021, USA b Institute of Genetic Medicine, Howard Hughes Medical Institute, Johns Hopkins School of Medicine, Baltimore, Maryland 21205, USA
Key Words: aneurysm • in utero • conotruncus • genetic • signal transduction • great vessels
Address for correspondence: Craig T. Basson, M.D., Ph.D., Director, Cardiovascular Research, Greenberg Cardiology Division, Department of Medicine, Weill Medical College of Cornell University, 525 E. 68th Street, New York, NY 10021. Voice: 212-746-2201; fax: 212-746-2222. e-mail: ctbasson{at}med.cornell.edu
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.
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