Skip to content

Member Log In

Marfan Syndrome

Marfan syndrome
Objectives
  1. Describe the genetic basis of Marfan syndrome
  2. List the skeletal diagnostic criteria for diagnosis of Marfan syndrome from the Berlin 1986 nosology
  3. Discuss major factors affecting mortality of patients with Marfan syndrome
  4. Discuss the orthopaedic problems most often encountered by patients with Marfan syndrome

Discussion points
  1. Why is it sometimes difficult to make the diagnosis of Marfan syndrome?
  2. What problems have been reported in the spine of patients with Marfan's syndrome?

Discussion
Marfan syndrome is presently undergoing intense investigation, especially from the genetic and molecular perspective. It is now accepted that mutations in the gene for fibrilllin-1 (FBN-1) have been shown to cause Marfan syndrome, an autosomal dominant disorder of connective tissue. Fibrillin-1 is a component of the microfibrils which accompany elastin in the elastic fiber. The exact function of the microfibrils is currently under investigation. What is known is the phenotypic expression of the dysfunctional microfibrils, manifested by disorders of the cardiovascular syste, musculoskeletal system, and ectopia lentis. Ultrastrutural changes in elastic fibers have been illustrated by Gigante. Life expectancy has risen dramatically in the past generation, largely as a result of advances in vascular surgery. Dilatation of the aortic root is responsible for most cases of aortic incompetence and replacement of the root has become very successful. Neonatal Marfan syndrome is more lethal than the later onset variety.

The diagnosis of Marfan syndrome can be complex. Many of the diagnostic criteria are age dependent. There are 8 specific musculoskeletal criteria: chest wall deformity, vertebral column deformity, arachnodactyly, high arch palate, tall stature, limb disproportion, abnormal joint mobility, and protrusio acetabuli. Four (4) of these have been suggested to qualify the musculoskeletal system as a major criterion. Tall stature is most frequent. A clinical test for arachnodactyly is the Steinberg test, where the thumb protrudes past the ulnar border of the palm when opposed in the fist. There are no a number of "fibillinopathies" which have variable expressions of the major diagnostic features of microfibril dysfunction. In addition, congenital contractural arachnodacyly has been identified as a type 2 fibrillinopathy.

Joint hypermobility and spine hypermobility, with a higher than normal rate of atlantoaxial subluxation, spondylolisthesis, kyphosis, and scoliosis are characteristic of Marfan syndrome. The atlantoaxial subluxation is less dramatic than that associated with Down's syndrome. Dural ectasia is common in Marfan syndrome and may be associated with back pain.

References
  1. Ahn NU, Sponseller PD, Ahn UM, Nallamshetty L, Kuszyk BS, Zinreich SJ. Dural ectasia is associated with back pain in Marfan syndrome. Spine 2000; 25( 12): 1562-8.
  2. Bresters D, Nikkels PG, Meijboom EJ, Hoorntje TM, Pals G, Beemer FA. Clinical, pathological and molecular genetic findings in a case of neonatal Marfan syndrome. Acta Paediatrica 1999; 88( 1): 98-101.
  3. De Paepe A, Devereux RB, Dietz HC, Hennekam RC, Pyeritz RE. Revised diagnostic criteria for the Marfan syndrome. American Journal of Medical Genetics 1996; 62( 4): 417-26.
  4. Frick SL. Scoliosis in children with anterior chest wall deformities. Chest Surgery Clinics of North America 2000; 10( 2): 427-36.
  5. Gigante A, Chillemi C, Greco F. Changes of elastic fibers in musculoskeletal tissues of Marfan syndrome: a possible mechanism of joint laxity and skeletal overgrowth. Journal of Pediatric Orthopedics 1999; 19( 3): 283-8.
  6. Gott VL, Greene PS, Alejo DE, Cameron DE, Naftel DC, Miller DC, et al. Replacement of the aortic root in patients with Marfan's syndrome [see comments]. New England Journal of Medicine 1999; 340( 17): 1307-13.
  7. Gray JR, Davies SJ. A clinical severity grading scale for Marfan syndrome. Journal of Medical Genetics 1996; 33( 9): 758-9.
  8. Gray JR, Bridges AB, West RR, McLeish L, Stuart AG, Dean JC, et al. Life expectancy in British Marfan syndrome populations. Clinical Genetics 1998; 54( 2): 124-8.
  9. Herzka A, Sponseller PD, Pyeritz RE. Atlantoaxial rotatory subluxation in patients with Marfan syndrome. A report of three cases. Spine 2000; 25( 4): 524-6.
  10. Hobbs WR, Sponseller PD, Weiss AP, Pyeritz RE. The cervical spine in Marfan syndrome. Spine 1997; 22( 9): 983-9.
  11. Lipscomb KJ, Clayton-Smith J, Harris R. Evolving phenotype of Marfan's syndrome. Archives of Disease in Childhood 1997; 76( 1): 41-6.
  12. Magid D, Pyeritz RE, Fishman EK. Musculoskeletal manifestations of the Marfan syndrome: radiologic features. AJR. American Journal of Roentgenology 1990; 155( 1): 99-104.
  13. Robinson PN, Godfrey M. The molecular genetics of Marfan syndrome and related microfibrillopathies. Journal of Medical Genetics 2000; 37(1): 9-25.
  14. Sponseller PD, Hobbs W, Riley LH, 3rd, Pyeritz RE. The thoracolumbar spine in Marfan syndrome. Journal of Bone & Joint Surgery -American Volume 1995; 77( 6): 867-76.
  15. Tallroth K, Malmivaara A, Laitinen ML, Savolainen A, Harilainen A. Lumbar spine in Marfan syndrome. Skeletal Radiology 1995; 24( 5): 337-40.
  16. Villeirs GM, Van Tongerloo AJ, Verstraete KL, Kunnen MF, De Paepe AM. Widening of the spinal canal and dural ectasia in Marfan's syndrome: assessment by CT. Neuroradiology 1999; 41( 11): 850-4.
  17. Yule SR, Hobson EE, Dean JC, Gilbert FJ. Protrusio acetabuli in Marfan's syndrome. Clinical Radiology 1999; 54( 2): 95-7.

See Also

Physician Education

Annual Meeting

Annual Meeting Location May 16-19, 2012 in Denver, CO

Meeting Archives

Past Annual Meeting Location

Parents & Patients

Patient photos

Find a doctor