Marfan syndrome: from gene to therapy

Curr Opin Pediatr. 2012 Aug;24(4):498-504. doi: 10.1097/MOP.0b013e3283557d4c.


Purpose of review: Although historically Marfan syndrome (MFS) has always been considered as a condition caused by the deficiency of a structural extracellular matrix protein, fibrillin-1, the study of Marfan mouse models and Marfan-related conditions has shifted our current understanding to a pathogenic model that involves dysregulation of the cytokine-transforming growth factor beta (TGF-β) signaling.

Recent findings: In this review, we focus on the impact of the revised MFS clinical diagnostic criteria. We discuss lessons that have been learned from molecular findings in relevant Marfan-related conditions, such as sporadic thoracic aortic aneurysm/dissection, stiff skin syndrome, acromelic dysplasias and Loeys-Dietz syndrome. We explore the latest insights into the role of the alternative TGF-β signaling pathways in MFS pathogenesis. Finally, we give an update on the current and future treatment strategies.

Summary: The recent insights into the pathogenesis of MFS and related disorders have offered a prime example of translational medicine with immediate bridge between molecular findings and therapeutic options.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Acromegaly / diagnosis
  • Acromegaly / genetics*
  • Acromegaly / therapy
  • Adolescent
  • Aortic Aneurysm, Thoracic / diagnosis
  • Aortic Aneurysm, Thoracic / genetics*
  • Aortic Aneurysm, Thoracic / therapy
  • Child
  • Child, Preschool
  • Female
  • Fibrillin-1
  • Fibrillins
  • Humans
  • Loeys-Dietz Syndrome / diagnosis
  • Loeys-Dietz Syndrome / genetics*
  • Loeys-Dietz Syndrome / therapy
  • Male
  • Marfan Syndrome / diagnosis
  • Marfan Syndrome / genetics*
  • Marfan Syndrome / therapy
  • Microfilament Proteins / genetics
  • Mutation / genetics
  • Signal Transduction / genetics
  • Transforming Growth Factor beta / genetics*


  • FBN1 protein, human
  • Fbn1 protein, mouse
  • Fibrillin-1
  • Fibrillins
  • Microfilament Proteins
  • Transforming Growth Factor beta

Supplementary concepts

  • Acromelic frontonasal dysplasia