Open AccessCardiovascular Manifestations and Complications of Loeys-Dietz Syndrome: CT and MR Imaging Findings
Author(s) -
Will Loughborough,
Kishore Minhas,
Jonathan Rodrigues,
Stephen Lyen,
Helen E. Burt,
Nathan Manghat,
Marcus Brooks,
Graham Stuart,
M.C.K. Hamilton
Publication year - 2018
Publication title -
radiographics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.866
H-Index - 172
eISSN - 1527-1323
pISSN - 0271-5333
DOI - 10.1148/rg.2018170120
Subject(s) - medicine , marfan syndrome , connective tissue disorder , radiology , magnetic resonance imaging , magnetic resonance angiography , disease , genetic disorder , genetic testing , connective tissue disease , surgery , autoimmune disease
Loeys-Dietz syndrome (LDS) is a recently described genetic connective tissue disorder with a wide spectrum of multisystem involvement. LDS is characterized by rapidly progressive aortic and peripheral arterial aneurysmal disease. LDS and the other inherited aortopathies such as Marfan syndrome have overlapping phenotypic features. However, LDS is characterized by a more aggressive vascular course; patient morbidity and mortality occur at an early age, with complications developing at relatively smaller aortic dimensions. In addition, there is more diffuse arterial involvement in LDS, with a large proportion of patients developing aneurysms of the iliac, mesenteric, and intracranial arteries. Early diagnosis and careful follow-up are essential for ensuring timely intervention in patients with arterial disease. Cross-sectional angiography has an important role in the baseline assessment, follow-up, and evaluation of acute complications of LDS, the thresholds and considerations of which differ from those of other inherited aortopathies. In this article, LDS is compared with other genetic vascular connective tissue disorders. In addition, the genetic, histopathologic, and cardiovascular manifestations of this disease process are reviewed, with a focus on computed tomographic and magnetic resonance imaging findings. Online DICOM image stacks and supplemental material are available for this article. © RSNA, 2018.