Marfan's syndrome

Question 1

Describe Marfan’s syndrome?

Answer 1

• Autosomal disorder
• Reduced extracllular microfibril formation

Question 2

Describe the criteria for Marfan’s syndrome?

Answer 2

• Diagnostic if >2
• Major:
  
  • Lens dislocation (ectopia lentis)
  • Aortic dissection/dilatation
  • Duct ectasia
  • Skeletal features
    
    • Arachnodactyly (long spider fingers)
    • Armspan > height
    • Pectus deformity
    • Scoliosis
• Minor:
  
  • Mitral valve prolapse
  • High-arched palate
  • Joint hypermobility

Question 3

Describe the diagnosis of Marfan’s syndrome?

Answer 3

• Clinical (based on criteria)
• MRI for dural ectasia

Question 4

Describe the management of Marfan’s?

Answer 4

• Major risk from aortic dissection
  
  • Beta blockers slow dilatation of aortic root
  • Annual echos
  • Surgical repair when aortic diameter >5cm

Question 5

Differential for Marfan’s syndrome?

Answer 5

Homocystinuria

Question 6

Differences between MArfan’s and Homocystinuria?

Answer 6