pediatrics
Marfan Syndrome
Key Points
Marfan syndrome results from an autosomal dominant mutation of the gene encoding the glycoprotein fibrillin-1, which is the main component of microfibrils, resulting in numerous possible deformities and defects. Manifestations vary widely, but the principal structural defects involve the cardiovascular, musculoskeletal, and ocular systems, causing a typical constellation of long limbs, aortic root dilation, and dislocated lenses. Aortic dissection is the most dangerous complication. Diagnose using clinical criteria; genetic testing is often done. Do imaging tests of the skeletal, cardiovascular, and ocular systems to detect structural abnormalities. Give all patients a beta-blocker to help prevent aortic complications; treat other complications as they arise. 