Orthopaedic Management in Marfan Syndrome Current Concept Review

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Alexandra Miller Dunham, MD
Paul D. Sponseller, MD, MBA

Abstract

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 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 to late 70s. We must remain vigilant, suspect diagnosis, and engage in multidisciplinary care to promote musculoskeletal function at advanced ages.

Article Details

Section
General Orthopedics