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Marfan syndrome

Eric D Shirley1, Paul D Sponseller

  • 1Naval Medical Center Portsmouth, VA, USA.

The Journal of the American Academy of Orthopaedic Surgeons
|September 4, 2009
PubMed

Insights

Marfan syndrome, a genetic disorder caused by fibrillin-1 mutations, often involves severe musculoskeletal issues like scoliosis and dural ectasia. These complications can lead to faster progression, surgical challenges, and hip joint problems.

Area of Science:

  • Genetics
  • Orthopedics
  • Rheumatology

Background:

  • Marfan syndrome is an autosomal dominant genetic disorder.
  • Mutations in the fibrillin-1 gene are the primary cause.
  • Diagnosis relies on the Ghent nosology criteria.

Purpose of the Study:

  • To detail the musculoskeletal manifestations of Marfan syndrome.
  • To compare scoliosis in Marfan syndrome patients versus idiopathic scoliosis.
  • To highlight complications associated with dural ectasia and protrusio acetabuli.

Main Methods:

  • Review of clinical data and diagnostic criteria.
  • Comparative analysis of Marfan syndrome patients and those with idiopathic scoliosis.
  • Description of Marfan syndrome's impact on skeletal structures.

Main Results:

  • Marfan syndrome patients exhibit faster scoliosis progression and reduced response to bracing.
  • Scoliosis surgery in these patients involves increased blood loss and complications.
  • Dural ectasia is more frequent, causing pain, and protrusio acetabuli can lead to hip arthritis.

Conclusions:

  • Marfan syndrome presents significant musculoskeletal challenges, particularly scoliosis and dural ectasia.
  • These manifestations require specialized management and can lead to severe complications.
  • Understanding these features is crucial for patient care and treatment strategies.

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