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Marfan syndrome is a genetic disorder of connective tissue primarily affecting the skeletal system, eyes and cardiovascular system.

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Cause

  • Autosomal dominant FBN-1 gene mutation which transcribes Fibrillin-1, a major constituent of elastin in connective tissues.

Clinical features

  • General
    • Tall and thin
    • Scoliosis
  • Upper limbs
    • Arachnodactyly (ask them to wrap their fingers around their wrist)
    • Wide arm span
    • Hyperextensible joints
  • Face
    • Long thin face
    • Myopia/lens dislocation
    • High-arched palate
    • Chest and abdomen
    • Pectus carinatum/excavatum
    • Stretch marks
    • Auscultate heart for murmurs (especially aortic regurgitation)
  • Lower limbs
    • Long legs
    • Flat feet

Diagnosis

  • Genetic tests – diagnostic

Management

  • No cure
  • Symptomatic treatment
  • Prevention of and surveillance for complications
    • Multidisciplinary team regular check ups
    • Annual echocardiogram (to assess aortic root and heart valves)
    • 5-yearly MR/CT aorta (to asses whole aorta)
    • β-blockers (to prevent aortic dilatation)
    • Composite valve conduit/aortic root graft replacement (for aortic dilatation)
    • Regular eye examinations
  • Screening of family members

Complications

  • Eyes: lens dislocation (50%), myopia
  • Weak thoracic aorta: aneurysms, dissection
  • Valves: aortic regurgitation, mitral prolapse/regurgitation
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