Japanese Journal of Radiology

, Volume 32, Issue 4, pp 205–210 | Cite as

Spinal imaging features in Japanese patients with Marfan syndrome: a case-control study

  • Eri Hayashida
  • Daisuke Utsunomiya
  • Akira Sasao
  • Tsuyoshi Yasuda
  • Toshinori Hirai
  • Hideaki Yuki
  • Seitaro Oda
  • Joji Urata
  • Akihiko Arakawa
  • Yasuyuki Yamashita
Original Article



The purpose of our study was to evaluate the morphology of the lumbosacral spine, i.e. the dura and vertebral body shape, of Japanese patients with Marfan syndrome (MFS) by comparing it with sex- and age-matched controls.

Materials and methods

Spinal MR or CT images of 32 MFS patients and 32 controls were retrospectively reviewed. The anteroposterior dural sac diameter (DSD), anteroposterior vertebral body diameter (VBD), and vertebral body height (VBH) were measured from L1 to S1 levels and the dural sac ratio [DSR = (DSD/VBD)] and vertebral body aspect ratio [VAR = (VBH/VBD)] were calculated.


At each level, mean DSD and DSR were significantly higher in MFS patients; VBD was not. The cutoff values for DSR to differentiate between MFS patients and the controls were 0.59, 0.46, 0.42, 0.45, 0.47, and 0.47 from the level of L1 to S1. At a sensitivity of 93.8 % and a specificity of 84.4 % the cutoff value at S1 was most diagnostic. In MFS patients VAR was significantly higher at L3 and L4.


Our cutoff value for DSR >0.47 at S1 may help to identify MFS in the Japanese population. A square-like appearance of the L3 and L4 vertebral bodies is a supplementary finding in MFS patients.


Marfan syndrome Dural ectasia Magnetic resonance Computed tomography Dural sac ratio 


Conflict of interest



  1. 1.
    Loeys BL, Dietz HC, Braverman AC, Callewaert BL, De Backer J, Devereux RB, et al. The revised Ghent nosology for the Marfan syndrome. J Med Genet. 2010;47:476–85.PubMedCrossRefGoogle Scholar
  2. 2.
    De Paepe A. Dural ectasia and the diagnosis of Marfanʼs syndrome. Lancet. 1999;354:878–9.PubMedCrossRefGoogle Scholar
  3. 3.
    Pyeritz RE. The Marfan syndrome. Annu Rev Med. 2000;51:481–510.PubMedCrossRefGoogle Scholar
  4. 4.
    Murdoch JL, Walker BA, Halpern BL, Kuzma JW, McKusick VA. Life expectancy and causes of death in the Marfan syndrome. N Engl J Med. 1972;286:804–8.PubMedCrossRefGoogle Scholar
  5. 5.
    Akutsu K, Morisaki H, Takeshita S, Ogino H, Higashi M, Okajima T, et al. Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population. Am J Cardiol. 2009;103:1146–8.PubMedCrossRefGoogle Scholar
  6. 6.
    Brooke BS, Habashi JP, Judge DP, Patel N, Loeys B, Dietz HC 3rd. Angiotensin II blockade and aortic-root dilation in Marfanʼs syndrome. N Engl J Med. 2008;358:2787–95.PubMedCentralPubMedCrossRefGoogle Scholar
  7. 7.
    Oosterhof T, Groenink M, Hulsmans FJ, Mulder BJ, van der Wall EE, Smit R, et al. Quantitative assessment of dural ectasia as a marker for Marfan syndrome. Radiology. 2001;220:514–8.PubMedCrossRefGoogle Scholar
  8. 8.
    Villeirs GM, Van Tongerloo AJ, Verstraete KL, Kunnen MF, De Paepe AM. Widening of the spinal canal and dural ectasia in Marfanʼs syndrome: assessment by CT. Neuroradiology. 1999;41:850–4.PubMedCrossRefGoogle Scholar
  9. 9.
    Ahn NU, Sponseller PD, Ahn UM, Nallamshetty L, Rose PS, Buchowski JM, et al. Dural ectasia in the Marfan syndrome: MR and CT findings and criteria. Genet Med. 2000;2:173–9.PubMedCrossRefGoogle Scholar
  10. 10.
    Weigang E, Ghanem N, Chang XC, Richter H, Frydrychowicz A, Szabo G, et al. Evaluation of three different measurement methods for dural ectasia in Marfan syndrome. Clin Radiol. 2006;61:971–8.PubMedCrossRefGoogle Scholar
  11. 11.
    Soylen B, Singh KK, Abuzainin A, Rommel K, Becker H, Arslan-Kirchner M, et al. Prevalence of dural ectasia in 63 gene-mutation-positive patients with features of Marfan syndrome type 1 and Loeys-Dietz syndrome and report of 22 novel FBN1 mutations. Clin Genet. 2009;75:265–70.PubMedCrossRefGoogle Scholar
  12. 12.
    Sohn GH, Jang SY, Moon JR, Yang JH, Sung K, Ki CS, et al. The usefulness of multidetector computed tomographic angiography for the diagnosis of Marfan syndrome by Ghent criteria. Int J Cardiovasc Imaging. 2011;27:679–88.PubMedCrossRefGoogle Scholar
  13. 13.
    Dietz HC, Cutting GR, Pyeritz RE, Maslen CL, Sakai LY, Corson GM, et al. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene. Nature. 1991;352:337–9.PubMedCrossRefGoogle Scholar
  14. 14.
    Jones KB, Myers L, Judge DP, Kirby PA, Dietz HC, Sponseller PD. Toward an understanding of dural ectasia: a light microscopy study in a murine model of Marfan syndrome. Spine. 2005;30:291–3.PubMedCrossRefGoogle Scholar
  15. 15.
    Soylen B, Hinz K, Prokein J, Becker H, Schmidtke J, Arslan-Kirchner M. Performance of a new quantitative method for assessing dural ectasia in patients with FBN1 mutations and clinical features of Marfan syndrome. Neuroradiology. 2009;51:397–400.PubMedCrossRefGoogle Scholar
  16. 16.
    Habermann CR, Weiss F, Schoder V, Cramer MC, Kemper J, Wittkugel O, et al. MR evaluation of dural ectasia in Marfan syndrome: reassessment of the established criteria in children, adolescents, and young adults. Radiology. 2005;234:535–41.PubMedCrossRefGoogle Scholar
  17. 17.
    Franken R, den Hartog AW, van de Riet L, Timmermans J, Scholte AJ, van den Berg MP, et al. Clinical features differ substantially between Caucasian and Asian populations of Marfan syndrome. Circ J. 2013;77:2793–8.PubMedCrossRefGoogle Scholar
  18. 18.
    Yoo EH, Woo H, Ki CS, Lee HJ, Kim DK, Kang IS, et al. Clinical and genetic analysis of Korean patients with Marfan syndrome: possible ethnic differences in clinical manifestation. Clin Genet. 2010;77:177–82.PubMedCrossRefGoogle Scholar
  19. 19.
    Ahn NU, Sponseller PD, Ahn UM, Nallamshetty L, Kuszyk BS, Zinreich SJ. Dural ectasia is associated with back pain in Marfan syndrome. Spine. 2000;25:1562–8.PubMedCrossRefGoogle Scholar
  20. 20.
    Stern WE. Dural ectasia and the Marfan syndrome. J Neurosurg. 1988;69:221–7.PubMedCrossRefGoogle Scholar
  21. 21.
    Lundby R, Rand-Hendriksen S, Hald JK, Lilleas FG, Pripp AH, Skaar S, et al. Dural ectasia in Marfan syndrome: a case control study. AJNR. 2009;30:1534–40.PubMedCrossRefGoogle Scholar

Copyright information

© Japan Radiological Society 2014

Authors and Affiliations

  • Eri Hayashida
    • 1
    • 2
  • Daisuke Utsunomiya
    • 2
  • Akira Sasao
    • 1
  • Tsuyoshi Yasuda
    • 1
  • Toshinori Hirai
    • 2
  • Hideaki Yuki
    • 2
  • Seitaro Oda
    • 2
  • Joji Urata
    • 3
  • Akihiko Arakawa
    • 1
  • Yasuyuki Yamashita
    • 2
  1. 1.Diagnostic Imaging CenterSaiseikai Kumamoto HospitalKumamotoJapan
  2. 2.Diagnostic Radiology, Faculty of Life SciencesKumamoto UniversityKumamotoJapan
  3. 3.Diagnostic RadiologyKumamoto City HospitalKumamotoJapan

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