Marfan's syndrome

- autosomal dominant
- mutation in fibrillin gene (FBN-1) on chromosome 15 (15 alphabates in Marfan's syndrome)
- abnormal fibrillin-1 interfere with normal microfibril formation, results in defects in ligament of lens, as well as abnormalities in structural integrity of aortic wall, lens zonules, ligaments, lung airways and spinal dura
- clinical features: tall stature, ectopia lentis, MVP, aortic root dilatation, aortic dissection, scoliosis, high arched palate, pectus excavatum, upward and temporal lens dislocation (downward in homocystinuria)
- treatment: beta-blocker (slow rate of dilatation of aortic root), lifestyle alteration, yearly echocardiogram