Journal
EUROPEAN JOURNAL OF MEDICAL GENETICS
Volume 58, Issue 12, Pages 695-703Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ejmg.2015.10.010
Keywords
Transforming growth factor beta; Marfan syndrome; Loeys-Dietz syndrome; Shprintzen-Goldberg syndrome; Angiotensin receptor blocker; Beta blocker
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Funding
- University of Antwerp (Lanceringsproject) [5198]
- Fund for Scientific Research, Flanders (FWO, Belgium) [G.0221.12, 6241]
- Dutch Heart Foundation [2013T093 BAV]
- Fondation Leducq [5446]
- Fund for Scientific Research, Flanders (FWO, Belgium)
- European Research Council (ERC)
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This review focusses on impact of a better knowledge of pathogenic mechanisms of Marfan and related disorders on their treatment strategies. It was long believed that a structural impairment formed the basis of Marfan syndrome as deficiency in the structural extracellular matrix component, fibrillin-1 is the cause of Marfan syndrome. However, the study of Marfan mouse models has revealed the strong involvement of the transforming growth factor-beta signalling pathway in the pathogenesis of Marfan. Similarly, this pathway was demonstrated to be key in the pathogenesis of Loeys-Dietz and Shprintzen-Goldberg syndrome. The elucidation of the underlying pathogenic mechanisms has led to new treatment strategies, targeting the overactive TGF-beta pathway. Various clinical trials are currently investigating the potential new treatment options. A meta-analysis will contribute to a better understanding of the various trial results. (C) 2015 Elsevier Masson SAS. All rights reserved.
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