Loeys-Dietz syndrome: MDCT angiography findings.
OBJECTIVE
Loeys-Dietz syndrome is a newly described phenotype caused by heterozygous mutations in the genes encoding type I or II transforming growth factor-beta (TGF-beta) receptor. Characterized by a unique constellation of clinical and pathologic findings, Loeys-Dietz syndrome manifests with aggressive vascular pathology. Aneurysms may form at a young age and have a propensity for arterial dissection. In addition, aneurysms rupture at diameters smaller than those used to dictate surgical intervention for other syndromes and disorders. This article presents the spectrum of arterial pathology that may be identified on MDCT angiography in patients with Loeys-Dietz syndrome.


CONCLUSIONS
For patients with Loeys-Dietz syndrome, early diagnosis and rapid intervention are instrumental in averting catastrophic events. Serial imaging assessment by radiologists is an important component in the management of these patients.
Johnson
Pamela T
PT
Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins School of Medicine, 601 N Caroline St., Rm. 3251, Baltimore, MD 21287, USA. pjohnso5@jhmi.edu
Chen
Jennifer K
JK
Loeys
Bart L
BL
Dietz
Harry C
HC
Fishman
Elliot K
EK
D000015:Abnormalities, Multiple / Q000000981:diagnostic imaging*; D000293:Adolescent; D000328:Adult; D000784:Aortic Dissection / Q000000981:diagnostic imaging*; D000792:Angiography / Q000295:instrumentation / Q000379:methods*; D017545:Aortic Aneurysm, Thoracic / Q000000981:diagnostic imaging*; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007089:Image Enhancement / Q000295:instrumentation / Q000379:methods*; D007223:Infant; D008297:Male; D008875:Middle Aged; D013577:Syndrome; D014057:Tomography, X-Ray Computed / Q000295:instrumentation / Q000379:methods*