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Updated: Jul 5 2021

Marfan Syndrome


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Images photo - scoliosis - colorado_moved.jpg - courtesy of Miller_moved.jpg ectasia.jpg
  • summary
    • Marfan Syndrome is a congenital connective tissue disorder caused by a mutation the fibrillin-1 gene that presents with long narrow limbs, skeletal abnormalities, cardiovascular abnormalities, and ocular abnormalities. 
    • Diagnosis is made with the Ghent Nosology criteria supplemented with cardiology and genetics assessment. 
    • Treatment involves a multidisciplinary approach to address orthopedic manifestations, cardiovascular abnormalities, and ocular abnormalities. 
  • Epidemiology
    • Incidence
      • 1/10,000
    • Demographics
      • no ethnic or gender predilection known
  • Etiology
    • Genetics
      • autosomal dominant
        • mutation in fibrillin-1 (FBN1) gene
        • located on chromosome 15 (locus CH 15q21)
        • multiple mutations identified
        • Sporadic mutation may also occur (30%)
    • Associated conditions
      • orthopaedic conditions
        • arachnodactyly (long, slender digits)
        • scoliosis (50%)
        • protrusio acetabuli (15-25%)
        • ligamentous laxity
        • recurrent dislocations (patella, shoulder, fingers)
        • pes planovalgus
        • dural ectasia (>60%)
        • meningocele
        • pectus excavatum or carinatum
      • nonorthopaedic conditions
        • cardiac abnormalities
          • aortic root dilatation
          • aortic dissection
          • mitral valve prolapse
        • superior lens dislocations (60%)
        • spontaneous pneumonthorax
        • Skin striae, recurrent hernias
  • Presentation
    • History
      • scoliosis is usually the first manifestation to be diagnosed
      • may be a history of ankle sprains secondary to ligamentous laxity
    • Symptoms
      • asymptomatic in most cases
    • Physical exam
      • dolichostenomelia (arm span greater than height (>1.05 ratio)
      • arachnodactyly (long, thin toes and fingers)
      • Thumb sign- Tip of thumb extends beyond small finger when thumb clasped in palm under four fingers
      • Wrist sign- distal phalanges of thumb and small fingers overlap when wrapped around opposite wrist
      • ligamentous hyperlaxity
      • scoliosis
      • Pes planus
  • Imaging
    • Radiographs
      • recommended
        • scoliosis series of spine
      • findings
        • scoliosis
        • kyphosis
    • MRI
      • MRI of spine prior to surgery
        • look for dural ectasia
    • Cardiac studies
      • cardiac evaluation prior to surgery
        • cardiac consult
        • echocardiogram
  • Studies
    • Diagnosis
      • orthopaedist may be the first provider to identify manifestations and suspect diagnosis
      • refer to cardiology or genetics if multiple manifestations are found
      • Ghent Nosology used to assist in diagnosis 
  • Treatment General
    • Nonoperative
      • beta blockers
        • indications
          • medications decrease risk of aortic dilatation
      • observation and orthotics
        • indications
          • for generalized joint laxity
    • Operative
      • preoperative evaluation
        • cardiology consultation required before any surgery
  • Scoliosis Treatment
    • Nonoperative
      • bracing
        • indications
          • early treatment of mild curve
        • outcomes
          • less effective than for idiopathic scoliosis
    • Operative
      • PSF +/- ASF with instrumentation
        • indications
          • rapidly progressing curve in a skeletally immature patient
          • large curve in a skeletally mature patient
          • Extend construct to avoid "adding-on", fuse to pelvis for distal curves with pelvic oblquity or poor distal fixation
          • Growing rod construct may be required in younger patients
          • Obtain MRI to identify dural ectasia prior to surgery
        • outcomes
          • higher complication rate than idiopathic scoliosis surgery
  • Acetabular Protrusio Treatment
    • Nonoperative/observation
    • Operative
      • Considered if progressing on radiographs or causing pain
        • skeletally immature
          • Closure of the triraditate cartilage (controversial
        • skeletally mature
          • valgus osteotomy (younger patients with minimal arthritis)
          • total hip replacement (older patients with symptomatic arthritis)
  • Complications
    • Postoperative Complications after Scoliosis Surgery
      • overall higher complication rate compared to idiopathic scoliosis
      • fixation failure
        • is the most common complication secondary to thin laminae, thin pedicles and osteopenia.
        • higher risk of fixation failure than AIS
      • infection
        • higher risk of infection than AIS
      • pseudarthrosis
        • higher risk of pseudarthrosis than AIS
      • dural tear and intraoperative CSF leak (8%)
        • higher risk than AIS
      • curve decompensation and need for reoperation
        • higher risk than AIS
      • blood loss
        • same complication rate as AIS
      • postoperative neurologic deficits
        • same complication rate as AIS
      • length of hospital stay
        • same complication rate as AIS
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