What are the nonmusculoskeletal manifestations of Marfan Syndrome? Which ones cause significant morbidity and mortality?
Ectopia lentis (upward dislocation) occurs in over half (50%–80%) of patients. Cardiovascular complications are multiple and common. Aneurysmal dilatation of the ascending aorta with dissection is the most common cause of death in patients. Mitral valve prolapse with regurgitation or aortic insufficiency is detectable in 60% to 70% patients by echocardiography. Pulmonary manifestations include cystic disease and spontaneous pneumothorax. The primary cause of morbidity is skeletal disease of the spine. Thoracic kyphosis can lead to reduced lung capacity and pulmonary insufficiency. Scoliosis is a major management problem and may be rapidly progressive during adolescence, requiring surgery.