Marfan syndrome

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

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 or angiotensin-II receptor antagonists (to prevent aortic dilatation)
  • Composite valve conduit/aortic root graft replacement or personalised external aortic root support (for aortic dilatation)
  • Regular eye examinations
• Screening of family members

Test yourself!

What is the cause of Marfan syndrome?

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What are the possible complications?

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

What conditions may cause joint hypermobility?

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