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: […]
