Marfan's Syndrome

FBN1 mutation Myopia Displacement of the lens (60%) Retinal detachment Glaucoma Cataracts Long limbs Sternum pushed in or out Scoliosis Dilatation, tear and rupture of the aorta  

Diagnosis: Series of criteria Ectopia Lentis Aortic root enlargement Systemic score: calculated from various features Genetic testing is increasingly used

Evaluation following diagnosis: Ophthalmological Skeletal manifestations Echocardiography Genetics consultation   Management: Eyes – glasses, can surgically remove and replace lens Surgical repair of aorta Monitor heart with frequent echocardiograms Avoid contact sports

Inheritance Autosomal dominant 75% inherited, 25% de novo

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inheritance