Updated: 10/7/2018

Marfan Syndrome

Topic
Review Topic
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Questions
10
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Evidence
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https://upload.orthobullets.com/topic/4089/images/Clinical photo - scoliosis - colorado_moved.jpg
https://upload.orthobullets.com/topic/4089/images/Arachnodactyly - courtesy of Miller_moved.jpg
https://upload.orthobullets.com/topic/4089/images/dural ectasia.jpg
Introduction
  • A connective tissue disorder associated with
    • long narrow limbs (dolichostenomelia)
    • 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
      • 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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(OBQ12.88) Which of the following clinical or radiographic manifestations (Figures A-E) is most consistently linked with a mutation in the FBN1 gene? Review Topic

QID: 4448
FIGURES:
1

Figure A

11%

(434/3974)

2

Figure B

39%

(1542/3974)

3

Figure C

11%

(426/3974)

4

Figure D

12%

(483/3974)

5

Figure E

26%

(1026/3974)

ML 5

Select Answer to see Preferred Response

PREFERRED RESPONSE 2

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

QID: 3212
1

Dural ectasia

7%

(139/2123)

2

Inferior lens dislocation

64%

(1355/2123)

3

Acetabular protrusio

11%

(230/2123)

4

Pectus excavatum

2%

(41/2123)

5

Dolichostenomelia

17%

(352/2123)

ML 3

Select Answer to see Preferred Response

PREFERRED RESPONSE 2

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

QID: 3051
1

Bracing is often effective if started early enough

74%

(1036/1402)

2

The cardiopulmonary condition of patients with Marfan syndrome should be evaluated and planned for before surgery

4%

(50/1402)

3

Preoperative computed tomograph should be performed to assess bony adequacy for fixation

11%

(159/1402)

4

Preoperative magnetic resonance imaging should be performed to evaluate for dural ectasia

5%

(64/1402)

5

There is an increased rate of pseudarthrosis post-operatively compared to adolescent idiopathic scoliosis

6%

(84/1402)

ML 2

Select Answer to see Preferred Response

PREFERRED RESPONSE 1

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

QID: 2962
1

Elastin

9%

(178/2011)

2

Fibrillin

82%

(1655/2011)

3

Fibroblast Growth Factor Receptor 3 (FGFR3)

2%

(36/2011)

4

Collagen type 1

4%

(81/2011)

5

Collagen type 2

3%

(58/2011)

ML 2

Select Answer to see Preferred Response

PREFERRED RESPONSE 2
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