Marfan's Syndrome

Question 1

What mutation is a/w Marfan’s syndrome?

Answer 1

Fibrillin-1 (FBN-1) protein; is AD

Question 2

What are common orthopedic and non-orthopedic manifestations a/w Marfan’s syndrome?

Answer 2

1) Dural ectasia >60%
2) arachnodactyly
3) Scoliosis ~50%
4) Acetabular protrusio 15-25%
5) Recurrent dislocations
6) dolichostenomelia (arm span greater than height >1.05 ratio)
7) Superior lens dislocation 60%
8) Cardiac abnormalities (aortic root, MVP)
9) Pectus excavatum

Question 3

What should be assessed prior to posterior spinal fusion in Marfan’s?

Answer 3

1) MRI- dural ectasia
2) CT- adequacy of bone fixation
3) Echo, cardio consult- cardiac abnormalities

Question 4

True or false, bracing is effective for most scoliosis curve a/w Marfan’s?

Answer 4

False

Question 5

What ophthamological abnormality is a/w Marfan’s?

Answer 5

Superior lens dislocation; inferior lens dislocation is a/w homocystinuria

Question 6

What are common complications a/w PSF for scoliosis in Marfn’s pts?

Answer 6

10-20%

1) Infection
2) failure of instrumentation
3) pseudarthrosis
4) decompensation of curve