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Marfan's Syndrome

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Topic updated on 06/20/16 11:17am
Introduction
  • A connective tissue disorder associated with
    • long limbs
    • skeletal abnormalities
    • cardiovascular abnormalities
    • ocular abnormalities
  • Epidemiology
    • incidence
      • 1/10,000
    • demographics
      • no ethnic or gender predilection known
  • Genetics
    • autosomal dominant
      • mutation in fibrillin-1 (FBN1) gene   
      • located on chromosome 15 (locus CH 15q21)
      • multiple mutations identified
  • Associated conditions
    • orthopaedic conditions
      • arachnodactyly
      • scoliosis (50%)
      • protrusio acetabuli (15-25%)
      • ligamentous laxity
      • recurrent dislocations (patella, shoulder, fingers)
      • pes planovalgus
      • dural ectasia (>60%) 
      • meningocele
      • pectus excavatum 
    • nonorthopaedic conditions 
      • cardiac abnormalities 
        • aortic root dilatation 
        • possible aortic dissection in future
        • mitral valve prolapse
      • superior lens dislocations (60%)
      • spontaneous pneumonthoraces
Presentation
  • History
    • scoliosis is usually the first 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) 
    • ligamentous hyperlaxity
    • scoliosis
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
Treatment
  • Scoliosis
    • nonoperative
      • bracing
        • indications
          • early treatment of mild curve
        • outcomes
          • ineffective in most cases 
    • operative 
      • ASF +/- PSF with instrumentation
        • indications
          • rapidly progressing curve in a skeletally immature patient 
          • large curve in a skeletally mature patient 
        • outcomes
          • higher complication rate than idiopathic scoliosis surgery
  • Acetabular protrusio
    • nonoperative
      • observation unless severe symptoms develop
  • Joint laxity
    • nonoperative
      • observation and orthotics as indicated
Complications
  • Postoperative Complications for Scoliosis Surgery 
    • Higher complication rate compared to idiopathic scoliosis
    • Fixation failure is the most common complication (21%) secondary to thin laminae, thin pedicles and osteopenia.
    • Higher risk of infection (10%), pseudarthrosis (10%), dural tear and intraoperative CSF leak (8%)
    • Higher risk of curve decompensation and need for reoperation
    • NO difference in: blood loss, postoperative neurologic deficits or length of hospital stay.
 

 

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Qbank (7 Questions)

TAG
(OBQ12.88) Which of the following clinical or radiographic manifestations (Figures A-E) is most consistently linked with a mutation in the FBN1 gene? Topic Review Topic
FIGURES: A   B   C   D   E  

1. Figure A
2. Figure B
3. Figure C
4. Figure D
5. Figure E

PREFERRED RESPONSE ▶
TAG
(OBQ10.118) All of the following are associated with Marfan's Syndrome EXCEPT? Topic Review Topic

1. Dural ectasia
2. Inferior lens dislocation
3. Acetabular protrusio
4. Pectus excavatum
5. Dolichostenomelia

PREFERRED RESPONSE ▶
TAG
(OBQ09.149) Marfan syndrome is an autosomal dominant disorder which results from a defective gene encoding for: Topic Review Topic

1. Elastin
2. Fibrillin
3. Fibroblast Growth Factor Receptor 3 (FGFR3)
4. Collagen type 1
5. Collagen type 2

PREFERRED RESPONSE ▶
TAG
(OBQ09.238) All of the following are true regarding treatment of scoliosis in patients with Marfan's syndrome EXCEPT? Topic Review Topic

1. Bracing is often effective if started early enough
2. The cardiopulmonary condition of patients with Marfan syndrome should be evaluated and planned for before surgery
3. Preoperative computed tomograph should be performed to assess bony adequacy for fixation
4. Preoperative magnetic resonance imaging should be performed to evaluate for dural ectasia
5. There is an increased rate of pseudarthrosis post-operatively compared to adolescent idiopathic scoliosis

PREFERRED RESPONSE ▶
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