Marfan Syndrome: A Clinical Update

J Am Acad Orthop Surg. 2017 Sep;25(9):603-609. doi: 10.5435/JAAOS-D-16-00143.

Abstract

Marfan syndrome is a connective tissue disorder that can affect many organ systems. Affected patients present with orthopaedic manifestations of the syndrome during all phases of life. Pain caused by musculoskeletal abnormalities often requires definitive orthopaedic treatment. Orthopaedic surgeons must understand the phenotypes of Marfan syndrome so they can recognize when screening is warranted and can appropriately address the skeletal manifestations. Through medical advancements, patients with Marfan syndrome are living longer and more active lives. Knowledge of the latest diagnostic criteria for the disorder, as well as of advances in understanding the skeletal phenotype, clinical trials of medication therapy, and lifestyle considerations is important for orthopaedic surgeons who treat these patients because these clinicians often are the first to suspect Marfan syndrome and recommend screening.

Publication types

  • Review

MeSH terms

  • Humans
  • Marfan Syndrome / complications*
  • Marfan Syndrome / diagnosis
  • Marfan Syndrome / therapy
  • Musculoskeletal Abnormalities / complications*
  • Musculoskeletal Pain / etiology
  • Musculoskeletal Pain / therapy*
  • Phenotype