Japanese Journal of Radiology

, Volume 28, Issue 4, pp 273–277

High prevalence of vertebral artery tortuosity of Loeys-Dietz syndrome in comparison with Marfan syndrome

  • Atsushi K. Kono
  • Masahiro Higashi
  • Hiroko Morisaki
  • Takayuki Morisaki
  • Yoshiaki Tsutsumi
  • Koichi Akutsu
  • Hiroaki Naito
  • Kazuro Sugimura
Original Article

DOI: 10.1007/s11604-010-0420-6

Cite this article as:
Kono, A.K., Higashi, M., Morisaki, H. et al. Jpn J Radiol (2010) 28: 273. doi:10.1007/s11604-010-0420-6

Abstract

Purpose

Loeys-Dietz syndrome (LDS) is a connective tissue disease caused by mutations in the genes encoding the transforming growth factor-β receptor (TGFBR). LDS is associated with aneurysms or dissections of the aorta similar to Marfan syndrome (MFS) as well as arterial tortuosity and aneurysms in the peripheral arteries. The purpose of this study was to evaluate the arterial diseases of LDS to differentiate it from MFS.

Materials and methods

A total of 10 LDS patients with an identified mutation in TGFBR (6 male, 4 female; mean age 36.3 years) and 20 MFS patients with an identified mutation in fibrilin-1 who were age- and sex-matched to the LDS subjects (12 male, 8 female; mean age 37.1 years) were reviewed. The prevalence of vertebral arterial tortuosity (VAT) and peripheral aneurysm (PAN) was studied using computed tomography angiography.

Results

In all, 9 of the 10 LDS patients had VAT, and five PANs were observed in 3 patients. In contrast, 8 (40%) of the MFS patients had VAT, and 1 patient had a PAN. LDS had a higher prevalence of VAT (P = 0.017) by Fisher’s exact test.

Conclusion

The VAT was highly prevalent among LDS patients. Thus, the presence of VAT has the potential to differentiate LDS from MFS.

Key words

Loeys-Dietz syndromeVertebral artery tortuosityPeripheral aneurysmTransforming growth factor-β receptor

Copyright information

© Japan Radiological Society 2010

Authors and Affiliations

  • Atsushi K. Kono
    • 1
    • 2
  • Masahiro Higashi
    • 1
  • Hiroko Morisaki
    • 3
  • Takayuki Morisaki
    • 3
  • Yoshiaki Tsutsumi
    • 4
  • Koichi Akutsu
    • 4
  • Hiroaki Naito
    • 1
  • Kazuro Sugimura
    • 2
  1. 1.Department of Radiology and Nuclear MedicineNational Cardiovascular CenterSuitaJapan
  2. 2.Department of RadiologyKobe University Graduate School of MedicineKobeJapan
  3. 3.Department of BioscienceNational Cardiovascular Center Research InstituteSuitaJapan
  4. 4.Division of Cardiology, Department of MedicineNational Cardiovascular CenterSuitaJapan