Recent developments in the diagnosis of Marfan syndrome and related disorders

Kim M Summers, Jennifer A West, Annette Hattam, Denis Stark, James J McGill and Malcolm J West
Med J Aust 2012; 197 (9): 494-497. || doi: 10.5694/mja12.10560


  • Marfan syndrome is a multisystem disorder of connective tissue that is inherited in an autosomal dominant fashion, and results from mutation of the FBN1 gene on human chromosome 15.

  • There are a number of conditions of the connective tissue with a similar phenotype that can be confused with Marfan syndrome. Modifications of the diagnostic criteria have recently been published, facilitating the differentiation of Marfan syndrome from these conditions.

  • It is still difficult to use modern genetic testing for diagnosis because Marfan syndrome can be caused by many different mutations in FBN1, a large gene with 65 coding segments, while mutations in other genes can cause overlapping phenotypes.

  • Several clinical trials of drug therapy, including the antihypertensive drug losartan, are in progress.

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  • Kim M Summers1
  • Jennifer A West2
  • Annette Hattam3
  • Denis Stark4
  • James J McGill5
  • Malcolm J West2

  • 1 The Roslin Institute and Royal (Dick) School of Veterinary Studies, University of Edinburgh, Edinburgh, UK.
  • 2 School of Medicine, University of Queensland, Brisbane, QLD.
  • 3 Genetic Health Queensland, Queensland Health, Brisbane, QLD.
  • 4 Prince Charles Hospital, Brisbane, QLD.
  • 5 Department of Metabolic Medicine, Royal Children’s Hospital, Brisbane, QLD.


We are grateful for the support of the Heart Foundation and the Prince Charles Hospital Foundation. The Roslin Institute is supported by an Institute Strategic Programme Grant from the Biotechnology and Biological Sciences Research Council, United Kingdom.

Competing interests:

No relevant disclosures.

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