Marfan Syndrome


  • Prevalence: 5 per 10k persons


  • Autosomal dominant with variable penetrance
    • Some cases have mutation on chromosome 15


  • Abundant type I collagen: espcially in skeleton (resulting in long limbs, arachnodactyly, pectus excavatum, kyphoscoliosis), eyes, (resulting in subluxation of lens), and cardiovascular systme (resulting in aortic or mitral regurgitation, aortic aneurysm)


  • ABG:
  • PFT’s: increased airway reactivity (reported in children with Marfan’s)


Pulmonary Manifestations

(10-15% of cases have intrinsic pulmonary manifestations)
(50% of cases have thoracic cage manifestations)

  • Emphysema (see [[COPD]])
    • May occur at any age
    • May be fatal in childhood in some cases
  • Apical Bullae (see [[Cystic-Cavitary Lung Lesions]])
    • May be striking finding in young patients
    • Apical fibrotic changes may also be seen in some cases
  • Spontaneous Pneumothorax (see [[Pneumothorax]])
    • Occurs in 5-10% of cases: this is 100x higher risk than that of the general population
    • Occurs due to rupture of subpleural bullae (espcially involveing the apices): emphysematous changes are commonly present in these cases
    • May be recurrent and bilateral
  • Congenital Malformation of Middle Lobe: may occur
    • Middle lobe may be absent or rudimentary
  • Increased Risk of Pneumonia:
  • Increased Risk of Obstructive Sleep Apnea:
  • Pectus Excavatum:
    • When isolated, seldom associated with pumnary abnormalities
      Kyphoscoliosis: may be associated with fatal cor pulmonale in some cases

Cardiac Manifestations

  • Aortic Dissection or Root Dilatation/AI (see [[Aortic Insufficiency]])
  • Sinus of Valsalva Aneurysm (see [[Sinus of Valsalva Aneurysm]])
  • Mitral Regurgitation
  • Mitral Valve Prolapse

Other Manifestations

  • Tall Body Habitus
  • Long Limbs
  • Subluxation of Lens of Eye
  • Arachnodactyly


  • No effective treatment


  • Decreased life expectancy is largely due to cardiac manifestations


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