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

Marfan syndrome: from gene to therapy.

Author information

1
Laboratory for Aneurysmal Disease Research, Center for Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.

Abstract

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.

PMID:
22705998
DOI:
10.1097/MOP.0b013e3283557d4c
[Indexed for MEDLINE]

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