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Marfan's syndrome

Marfan syndrome (Ref. Hari. 18th ed., Pg-3212)
Marfan’s syndrome is a genetic disorder of the connective tissue of the body manifested principally by changes in the skeleton, eye and cardiovascular system.
  1. Mutation in gene for fibrillin-1 (FBN-1)
  2. Loss of fibrillary fibre base for deposition of elastin
  1. Skeletal changes
  2. Ectopia lentis
  3. Aortic aneurysm  
  1. Skeletal changes of Marfan’s syndrome
    1. Patients are usually tall   
    2. Have long limbs
    3. The ratio of upper segment to lower segment is usually 2 SDs below the mean for age, race & sex.
    4. Arachnodactyly (fingers are long and slender, spider like in appearance)
    5. Pectus Excavatum, Pectus carinatum..  
    6. Scoliosis, kyphosis
  2. Cardiovascular changes.
    1. MVP
    2. Mitral valve progresses to MR    
    3. Aortic aneurysm occurs (mainly at root of aorta – (LQ 2012) it can leads to AR
  3. Ocular changes.
    1. Dislocation of the lens (ectopia lentis) b. Elongation of globe (Myopia)   c. Retinal detachment.
  4. Associated changes.
    1. Spontaneous pneumothorax
    2. Inguinal & incisional hernias   
    3. Striae may occur over shoulder & buttocks.
GHENT criteria are used for diagnosis
Major criteria
  1. Presence of at least four skeletal abnormalities:    
  2. Ectopia lentis
  3. Dilation of the ascending aorta with or without dissection;   
  4. Dural ectasia; 
  5. A blood relative who meets the same criteria, with or without a DNA diagnosis.

Extra Edge: Molecular defects: (Ref. Hari. 18th ed., Pg- 3212)


More than 90% of patients clinically classified as having MFS by the “Ghent criteria” have a mutation in the gene for fibrillin-1 (FBN!).

Differential diagnosis of Marfan syndrome: Homocystinuria


Important Points

McDonald criteria used for multiple sclerosis


Nazer criteria for severity of Wilson disease


Chappell Hill criteria are used to classify vasculitis


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