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
QUESTIONS 1 of 11 1 2 3 4 5 6 7 8 9 10 11 Previous Next Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (OBQ12.88) Which of the following clinical or radiographic manifestations (Figures A-E) is most consistently linked with a mutation in the FBN1 gene? QID: 4448 FIGURES: A B C D E Type & Select Correct Answer 1 Figure A 12% (545/4714) 2 Figure B 40% (1872/4714) 3 Figure C 11% (508/4714) 4 Figure D 12% (561/4714) 5 Figure E 25% (1156/4714) L 5 Question Complexity B Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 2 Review Tested Concept Review Full Topic Sorry, this question is for PEAK Premium Subscribers only Upgrade to PEAK (OBQ10.118) All of the following are associated with Marfan's Syndrome EXCEPT? QID: 3212 Type & Select Correct Answer 1 Dural ectasia 7% (187/2741) 2 Inferior lens dislocation 62% (1712/2741) 3 Acetabular protrusio 11% (292/2741) 4 Pectus excavatum 3% (69/2741) 5 Dolichostenomelia 17% (472/2741) L 3 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 2 Review Tested Concept Review Full Topic (OBQ09.238) All of the following are true regarding treatment of scoliosis in patients with Marfan's syndrome EXCEPT? QID: 3051 Type & Select Correct Answer 1 Bracing is often effective if started early enough 71% (1447/2033) 2 The cardiopulmonary condition of patients with Marfan syndrome should be evaluated and planned for before surgery 4% (85/2033) 3 Preoperative computed tomograph should be performed to assess bony adequacy for fixation 12% (244/2033) 4 Preoperative magnetic resonance imaging should be performed to evaluate for dural ectasia 5% (96/2033) 5 There is an increased rate of pseudarthrosis post-operatively compared to adolescent idiopathic scoliosis 7% (145/2033) L 2 Question Complexity C Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 1 Review Tested Concept Review Full Topic (OBQ09.149) Marfan syndrome is an autosomal dominant disorder which results from a defective gene encoding for: QID: 2962 Type & Select Correct Answer 1 Elastin 8% (224/2758) 2 Fibrillin 83% (2284/2758) 3 Fibroblast Growth Factor Receptor 3 (FGFR3) 2% (54/2758) 4 Collagen type 1 4% (107/2758) 5 Collagen type 2 3% (80/2758) L 2 Question Complexity B Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 2 Review Tested Concept Review Full Topic
All Videos (0) Podcasts (2) Pediatrics | Marfan's Syndrome Pediatrics - Marfan Syndrome Listen Now 18:9 min 10/15/2019 291 plays 4.7 (7) Question Session⎪Marfan's Syndrome & Femoral Shaft Fractures Orthobullets Team Pediatrics - Marfan Syndrome Listen Now 26:17 min 11/6/2019 46 plays 0.0 (0)