Clinical, Diagnostic, and Therapeutic Aspects of the Marfan Syndrome

  • Jason R. Cook
  • Francesco RamirezEmail author
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 802)


Marfan syndrome (MFS) is a relatively common and often lethal disease of connective tissue. Medical, surgical and basic research advances over the last two decades have had a major positive impact on the clinical management of MFS patients. Life expectancy has increased significantly, more discriminating diagnostic criteria have been developed, a number of new clinical entities have been recognized, and exciting opportunities for drug-based therapy have emerged. Despite such a remarkable progress, MFS diagnosis remains difficult and aortic disease progression is very heterogeneous and clinical outcome is unpredictable. Ongoing research efforts are therefore exploiting animal models of MFS to identify novel diagnostic and prognostic biomarkers, genetic, epigenetic and environmental modifiers and druggable biological targets.


Marfan syndrome Mutations in gene for fibrillin-1 (FBN1Thoracic and abdominal aortic aneurysm Valvulopathy Ghent nosology β-blockers Calcium channel blockers Angiotensin receptor blockers (ARBs) Bone deformities 



Studies from the authors’ laboratory described in the review were supported by grants from the National Institutes of Health (AR-049698, AR-42044 and T32GM007280) and the National Marfan Foundation. We thank Ms. Karen Johnson for organizing the manuscript.


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Copyright information

© Springer Science+Business Media Dordrecht 2014

Authors and Affiliations

  1. 1.Department of Pharmacology and Systems TherapeuticsIcahn School of Medicine at Mount SinaiNew YorkUSA

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