Orthopaedic Management in Marfan Syndrome

Marfan syndrome (MFS) is a variable autosomal dominant connective tissue disorder affecting multiple organ systems. Causative mutations in the fibrillin-1 protein lead to dysregulation of transforming growth factor-β (TGF-β). A diagnosis of MFS can be made using systemic evaluation combining clinical and genetic features. Because the condition is characterized by a variety of musculoskeletal manifestations, orthopaedic surgeons may be the first provider patients will encounter. Common musculoskeletal manifestations of MFS include spine deformity, acetabular protrusion, limb length deformity, joint laxity, and foot pathology. Non-musculoskeletal manifestations include major cardiac and ocular conditions. Early identification is important for referral and prompt treatment of cardiovascular abnormalities, which can prevent premature mortality. As medical and surgical interventions have advanced, life expectancy for MFS patients has increased into the late 70s. We must remain vigilant, suspect diagnosis, and engage in multidisciplinary care to promote musculoskeletal function at advanced ages. Key Concepts: • Marfan syndrome is an autosomal dominant disorder, most commonly caused by mutations in fibrillin-1. • Musculoskeletal manifestations, like scoliosis, acetabulum protrusion, pes planovalgus, and limb abnormalities are common, though cardiopulmonary and ocular problems have the potential to carry high mortality and morbidity. • Scoliosis in Marfan syndrome progresses rapidly, is less responsive to bracing, requires application of different surgical tactics, is benefited by preoperative 3D imaging, and has higher rates of surgical complications. • A systemic evaluation assessing a combination of clinical, familial, and genetic features is necessary to identify patients who possess ≥2 Marfanoid features and would benefit from further genetic and cardiopulmonary work up. • Multidisciplinary perioperative management is essential to reduce morbidity and mortality, and for effective longitudinal care.