Marfan syndrome

Marfan syndrome is an autosomal dominant disorder of fibrous connective tissue resulting in clinical manifestations in the skeletal, ocular and cardiovascular systems. 

Features of Marfan syndrome may include: 
  • Skeletal 
    • Increased height 
    • Reduced arm span to height ratio >1.05 
    • Scoliosis
    • Pectus carinatum or excavatum 
    • Joint hypermobility 
  • Occular 
    • Ectopia lentis
    • Myopia
  • Cardiovascular 
    • Aortic dilation 
    • Mitral valve prolapse 
  • Other 
    • Spontaneous pneumothorax 
    • Lumbrosacral dural ectasia

Classic Marfans is caused by a mutation in the gene FBN1 which encodes fibrillin-1

Diagnosis is by the extensive Ghent criteria

  • Beta blockers to slow rate of aortic aneurysm 
  • Surgery for aortic aneurysm once >5cm 
  • Avoidance of contact sports 

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