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Marfan's syndrome

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Marfan's syndrome is a connective tissue disease with an autosomal dominant inheritance and an incidence of 4-6 per 100 000.

People with Marfan's syndrome used to have a life expectancy reduced by 50% but this is now changing because of improved treatment of cardiovascular abnormalities.

Typical musculoskeletal features include limbs disproportionately long for the trunk, scoliosis (in particular pectus excavatum or carinatum), and a high-arched narrow palate with laxity of the joints.

  • cardiovascular features are the most important diagnostically, with mitral valve prolapse and, particularly, dilatation of the ascending aorta
  • aortic regurgitation may develop. Histologically, the aorta demonstrates cystic medial necrosis. Progressive dilatation of the aorta is symmetric, commencing at the sinus of Valsalva and predisposing to rupture and dissection
  • subluxation of the lens because of laxity of the suspensory ciliary ligament is present in about 60% of cases, normally bilateral and presenting and associated with severe myopia because of increased axial length of the cornea from childhood onwards


  1. ARC (February 2005). Topical Reviews - Heritable Collagen Disorders.
  2. Child AH and Birdwood G (Eds). The Marfan Syndrome: a clinical guide. London: British Heart Foundation, 1995.


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