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


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.


CONCLUSIONS
The VAT was highly prevalent among LDS patients. Thus, the presence of VAT has the potential to differentiate LDS from MFS.
Department of Radiology and Nuclear Medicine, National Cardiovascular Center, 5-7-1 Fujishiro-dai, Suita, 565-8565, Japan. ringonotegami@mac.com
Atsushi K
AK
Kono
Masahiro
M
Higashi
Hiroko
H
Morisaki
Takayuki
T
Morisaki
Yoshiaki
Y
Tsutsumi
Koichi
K
Akutsu
Hiroaki
H
Naito
Kazuro
K
Sugimura
D000328:Adult; D000783:Aneurysm / Q000000981:diagnostic imaging* / Q000473:pathology; D016009:Chi-Square Distribution; D005260:Female; D005337:Fibrin / Q000235:genetics; D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D008297:Male; D008382:Marfan Syndrome / Q000000981:diagnostic imaging* / Q000235:genetics / Q000473:pathology; D008875:Middle Aged; D011857:Radiographic Image Interpretation, Computer-Assisted; D018125:Receptors, Transforming Growth Factor beta / Q000235:genetics; D014057:Tomography, X-Ray Computed; D014711:Vertebral Artery / Q000000981:diagnostic imaging* / Q000473:pathology
D018125:Receptors, Transforming Growth Factor beta; D005337:Fibrin