Clinical, diagnostic, and therapeutic aspects of the marfan syndrome

Jason R. Cook, Francesco Ramirez

Research output: Chapter in Book/Report/Conference proceedingChapterpeer-review

19 Scopus citations


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.

Original languageEnglish
Title of host publicationProgress in Heritable Soft Connective Tissue Diseases
PublisherSpringer New York LLC
Number of pages18
ISBN (Print)9789400778924
StatePublished - 2014

Publication series

NameAdvances in Experimental Medicine and Biology
ISSN (Print)0065-2598


  • Angiotensin receptor blockers (ARBs)
  • Bone deformities
  • Calcium channel blockers
  • Ghent nosology
  • Marfan syndrome
  • Mutations in gene for fibrillin-1 (FBN1)
  • Thoracic and abdominal aortic aneurysm
  • Valvulopathy
  • β-blockers


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