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  • Q&A with Australian Health Practitioners

    What is Marfan syndrome?

    Related Topics
    Congenital & Genetic Conditions Marfan Syndrome
    • 2 answers
    • Michelle O'Sullivan
    • Dr Simon Easterbrook-Smith
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  • Michelle O'Sullivan

    Occupational Therapist (OT)

    I have extensive experience in the management of hypermobility disorders including Ehlers-Danlos Syndrome. I work exclusively with patients with hypermobility conditions. Having graduated from the … View Profile

    Marfan Syndrome is a genetic (inherited from a parent in most cases) connective tissue disorder.  It can affect the skeletal, cardiovascular, ocular, pulmonary and nervous systems. The most dangerous affects are seen in the cardiovascular system, with problems relating to heart valves and the aorta often being found. This is the reason that correct diagnosis and management of this Syndrome is extremely important. 

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  • Dr Simon Easterbrook-Smith

    Health Professional

    My research interests include immunology and the mechanisms of amyloid formation. The latter has implications for people who are dealing with Alzheimer's Disease, Parkinson's Disease … View Profile

    Adding to what Michelle wrote, in people with Marfan Syndrome a protein called Fibrillin-1 is present in mutant form. Fibrillin-1 has two main jobs: it (as Michelle wrote) has a structural role in connective tissue. Also, it binds to a protein called TGF-β. TGF-β is a signalling molecule, important in the development of the lungs, heart valves, and aorta.
     
    In Marfan Syndrome, mutant Fibrillin-1 can not bind to TGF-β so its levels rise in the lungs, heart valves, and aorta leading to weakening of these tissues, giving rise to the features of Marfan Syndrome.
     
    From a genetic perspective,  Marfan Syndrome is what is called an autosomal dominant disorder. That means that the children of somebody with Marfan Syndrome have a 50% chance of inheriting it.
     
    Marfan Syndrome affects somewhere between 1:3000 and 1:5000 people. What that means in the Australian context is that about 6000 people live with it here.

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