Marfan syndrome

1. It is an autosomal dominant syndrome.

2. Caused by a mutation in the FBN1 gene, which affects the production of extracellular glycoprotein fibrillin-1.


Pathophysiology- 

1. Disrupted Microfibrils

2. Excessive TGF-β signaling 


Signs and symptoms- Ocular, cardiovascular, skeletal features 


Ocular features: 

1 Bilateral ectopia lentis (dislocation of eye lens)- Superior temporally


Cardiovascular features: 

1 Dilated ascending aorta 

2 Mitral valve prolapse

3 Aortic dissection 


Skeletal features:

1 Tall stature 

2 Arachnodactyly / Spider fingers (abnormally long and slender fingers)

3 Scoliosis, kymphosis 



Reference:

1. Robbins & Cotran pathologic basis of disease (South asia edition), Vol. 1, P. No. 144-45 

2. Harper's illustrated biochemistry, 30th edition (International), P. No. 632-33 

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