High prevalence of vertebral artery tortuosity of Loeys-Dietz syndrome in comparison with Marfan syndrome
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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.
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.
The VAT was highly prevalent among LDS patients. Thus, the presence of VAT has the potential to differentiate LDS from MFS.
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- High prevalence of vertebral artery tortuosity of Loeys-Dietz syndrome in comparison with Marfan syndrome
Japanese Journal of Radiology
Volume 28, Issue 4 , pp 273-277
- Cover Date
- Print ISSN
- Online ISSN
- Springer Japan
- Additional Links
- Loeys-Dietz syndrome
- Vertebral artery tortuosity
- Peripheral aneurysm
- Transforming growth factor-β receptor
- Industry Sectors
- Author Affiliations
- 1. Department of Radiology and Nuclear Medicine, National Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, 565-8565, Japan
- 2. Department of Radiology, Kobe University Graduate School of Medicine, Kobe, Japan
- 3. Department of Bioscience, National Cardiovascular Center Research Institute, Suita, Japan
- 4. Division of Cardiology, Department of Medicine, National Cardiovascular Center, Suita, Japan