Marfan syndrome

Genetics: Autosomal dominant (AD)

 

Caused by a mutation in the FBN1 gene, which affects the production of extracellular glycoprotein fibrillin-1. [PYQ: NEET PG 2024]

 

Pathophysiology- 

• Disrupted Microfibrils

• Excessive TGF-β signaling 

 

Signs and symptoms- Ocular, cardiovascular, skeletal features 

 

Ocular features: 

• Bilateral ectopia lentis (dislocation of eye lens)- Superior temporally (Mnemonic: Mast, Ma=Marfan, st = Superior temporal)

 

Cardiovascular features: 

• Aortic dilation or aortic aneurysm, which can lead to aortic dissection (tear in the aorta).

• Mitral valve prolapse 

 

Skeletal features:

• Tall stature 

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

• Spine - Scoliosis, kymphosis 

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