Artery Research
Volume 3, Issue 1 , Pages 9-16, February 2009

Marfan and Marfan-like syndromes

  • J. De Backer

      Affiliations

    • Department of Medical Genetics, University Hospital Ghent, De Pintelaan 185, 9000 Ghent, Belgium
    • Department of Cardiology, University Hospital Ghent, De Pintelaan 185, 9000 Ghent, Belgium
    • Corresponding Author InformationCorresponding author at: Department of cardiology, University Hospital Ghent, De Pintelaan 185, 9000 Ghent, Belgium. Tel.: +32 9 332 56 27; fax: +32 9 332 49 70.
    • ,
  • B. Loeys

      Affiliations

    • Department of Medical Genetics, University Hospital Ghent, De Pintelaan 185, 9000 Ghent, Belgium
    • ,
  • A. De Paepe

      Affiliations

    • Department of Medical Genetics, University Hospital Ghent, De Pintelaan 185, 9000 Ghent, Belgium

Received 23 October 2008; received in revised form 8 January 2009; accepted 19 January 2009. published online 05 March 2009.

Summary 

With the help of both clinical and genetic diagnostic tools, the spectrum of inherited disorders affecting the arterial system has extended tremendously over the past decades. Discriminating these different entities is important since prognosis and treatment may differ substantially according to the diagnosis. Here we provide an overview of the current clinical and genetic knowledge on classic Marfan syndrome as well as on Marfan related disorders. Through our increased understanding of the pathophysiological mechanisms underlying aneurysm formation in these monogenetic conditions, new therapeutic strategies have emerged and are now being developed. This may serve as a nice example of translational medicine were detailed knowledge of the complex molecular pathways in rare disorders may help us to improve diagnosis and treatment of more common conditions.

Keywords: Marfan syndrome, Familial thoracic aortic aneurysm, genetics, Marfan-like syndrome

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PII: S1872-9312(09)00004-0

doi:10.1016/j.artres.2009.01.003

Artery Research
Volume 3, Issue 1 , Pages 9-16, February 2009

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