Marfan Syndrome

Marfan syndrome is an inherited connective-tissue disorder most often caused by a pathogenic variant in FBN1, the gene for fibrillin-1. Fibrillin helps provide strength and elasticity to tissues. The condition is usually autosomal dominant, so an affected parent has a 50% chance of passing the variant to each child; some clients have a new variant without a known family history. The skeletal appearance may be striking: tall stature, long limbs and fingers, pectus deformity, scoliosis, flat feet, or hypermobile joints. Those findings are clues, not the main danger. The high-priority complication is progressive aortic-root dilation, which can remain silent while the aortic wall becomes increasingly vulnerable to aneurysm, dissection, or rupture. A useful clinical habit is to place the aorta before the appearance in your priority list. A client may look well, have no pain, and still require lifelong cardiology surveillance. Conversely, new severe chest or back pain in a client with Marfan syndrome is not routine musculoskeletal pain until an acute aortic problem has been urgently considered.