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Musculoskeletal CT Appearances

 

 


Marfan Syndrome CT Findings

  • Widening of the dural sac (dural ectasia)
  • Dilation of the aortic root
  • Dissection of the aorta (usually thoracic aorta)
  • Aortic aneurysm
  • Dilation of the main pulmonary artery
  • Pectus excavatum or pectus carinatum
  • Scoliosis
  • May have acetabular protrusion

Marfan Syndrome CT Findings

Other Information About Marfan Syndrome

Etiology:

  • Caused by an FBN1 mutation
  • 1 in 4 Marfan Syndrome patients develop the mutation spontaneously

Epidemiology:

  • No known prevalence among race or sex

Presentation:

  • Heart palpitations
  • Aortic root aneurysms
  • Disproportionately long arms, legs, fingers and toes
  • Protruding or sunken sternum
  • Crowded teeth
  • Scoliosis, dural ectasia
  • Striae atrophicae
  • Flat feet

Prognosis:

  • Marfan Syndrome has no cure but symptoms can be managed
  • Patients should be monitored for complications

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