• Atsushi K Kono, Masahiro Higashi, Hiroko Morisaki, Takayuki Morisaki, Yoshiaki Tsutsumi, Koichi Akutsu, Hiroaki Naito, and Kazuro Sugimura.
• Department of Radiology and Nuclear Medicine, National Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, 565-8565, Japan. ringonotegami@mac.com
• Jpn J Radiol. 2010 May 1; 28 (4): 273-7.

PurposeLoeys-Dietz syndrome (LDS) is a connective tissue disease caused by mutations in the genes encoding the transforming growth factor-beta 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 MethodsA 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.ResultsIn 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.ConclusionThe VAT was highly prevalent among LDS patients. Thus, the presence of VAT has the potential to differentiate LDS from MFS.

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