This site is intended for healthcare professionals

Sign in
Go to /sign-in page

You can view 5 more pages before signing in

Genetics

Last reviewed dd mmm yyyy. Last edited dd mmm yyyy

Authoring team

  • inherited in an autosomal dominant pattern in males and females equally
  • a child of an affected parent has a 50% chance of inheriting Marfan syndrome
  • in 91% of classically affected patients, a causative mutation in the fibrillin-1 gene, can be demonstrated
    • fibrillin-1 codes for a connective tissue protein
  • most mutations are unique to that pedigree
  • mutations in genes encoding proteins that interact with fibrillin, have been identified in some patients with Marfan-like syndromes
  • genetic testing can be used to confirm the diagnosis, and for family screening, prenatal diagnosis, and even pre-implantation genetic diagnosis

Reference:

  • 1) BHF (November 2009). Marfan syndrome.

Create an account to add page annotations

Create a free account

Add information to this page that would be handy to have on hand during a consultation, such as a web address or phone number. This information will always be displayed when you visit this page

The content herein is provided for informational purposes and does not replace the need to apply professional clinical judgement when diagnosing or treating any medical condition. A licensed medical practitioner should be consulted for diagnosis and treatment of any and all medical conditions.

Connect

Copyright 2024 Oxbridge Solutions Limited, a subsidiary of OmniaMed Communications Limited. All rights reserved. Any distribution or duplication of the information contained herein is strictly prohibited. Oxbridge Solutions receives funding from advertising but maintains editorial independence.