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Dr Harsh Duhan on Instagram: "⏩️ Marfan Syndrome: The Archetype of Connective Tissue Disorders ✅️ Basics Genetic disorder (Autosomal dominant) caused by FBN1 mutations (fibrillin-1). Affects connective tissue—cardiovascular, skeletal, ocular systems. High penetrance | Variable expressivity. ~25% of cases are de novo mutations. Part of heritable thoracic aortic disease spectrum. ✅️ Key Clinical Features Cardiovascular: Aortic root aneurysm (most common initial sign), Aortic dissection (Type A > T
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Dr Harsh Duhan on Instagram: "⏩️ Marfan Syndrome: The Archetype of Connective Tissue Disorders ✅️ Basics Genetic disorder (Autosomal dominant) caused by FBN1 mutations (fibrillin-1). Affects connective tissue—cardiovascular, skeletal, ocular systems. High penetrance | Variable expressivity. ~25% of cases are de novo mutations. Part of heritable thoracic aortic disease spectrum. ✅️ Key Clinical Features Cardiovascular: Aortic root aneurysm (most common initial sign), Aortic dissection (Type A > T
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