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Marfan Syndrome

Posted By Alan Hakim, February 1, 2015


These pages are all about Marfan Syndrome.

The three most common structural building blocks that constitute the ‘connective tissues’ are the proteins Collagen,  Fibrillin,  and Elastin. They all have important functions in maintaining elasticity and strength of these tissues. In Marfan syndrome (MFS), there is not enough Fibrillin in the connective tissues. The biology of this is more complex than it just being about the physical amount of Fibrillin present; it is also about how Fibrillin interacts with another protein called Transforming Growth Factor – Beta and how this influences normal biochemical processes in the connective tissue. When these interactions go wrong the tissues can become weak and fragile. Fibrillin is found mainly in bones, the aorta (main artery) and the eyes. Hence, these are the parts of the body most prone to complications in MFS. The clinical features of MFS vary considerably from person to person, with many people having only mild features. Everyone with MFS is born with the condition, but it may not be obvious before the teenage years (during the growth spurt). To add to the complexity some of the complications may not arise for many years, if indeed they arise at all. Every case has to be managed at an individual level.

In the sub menu to the left of the screen you will find more information.

If you click HERE you will be taken to the The Marfan Foundation website where there is a wealth of helpful information.

The following references have been used to support the sub menu texts:

Cook JR, Nistala H, Ramirez F. Drug-based therapies for vascular disease in Marfan syndrome – from mouse models to human patients. Mt Sinai J Med. 2010;77(4):366-73

Gao LG, Luo F, Hui RT, Zhou XL. Recent molecular biological progress in Marfan syndrome and Marfan-associated disorders. Ageing Res Rev. 2010 Jul;9(3):363-8

Gott VL, Cameron DE, Alejo DE, Greene PS, Shake JG, Caparrelli DJ, Dietz HC. Aortic root replacement in 271 Marfan patients: a 24-year experience. Ann Thorac Surg. 2002 Feb;73(2):438-43.

Grahame R, Hakim AJ. Arachnodactyly-a key to diagnosing heritable disorders of connective tissue. Nat Rev Rheumatol. 2013;9(6):358-64.

Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010 Jul;47(7):476-85.

McKusick VA. The cardiovascular aspects of Marfan syndrome. Circulation 1955; 11:321-342.

Neptune ER, Frischmeyer PA, Arking DE, et al. Dysregulation of TGF-beta activation contributes to pathogenesis in Marfan syndrome. Nat Genet 2003;33:407-11


Dr A Hakim, Trustee and Chief Medical Advisor.

Published Online February 2015, First published HMSA Journal Spring 2014. Review Plan January 2017TIS-image



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