Loeys–Dietz syndrome: a primer for diagnosis and management

Loeys–Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical management for some individuals is complex. This review of literature and expert opinion aims to provide medical guideli...

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Published inGenetics in medicine Vol. 16; no. 8; pp. 576 - 587
Main Authors MacCarrick, Gretchen, Black, James H., Bowdin, Sarah, El-Hamamsy, Ismail, Frischmeyer-Guerrerio, Pamela A., Guerrerio, Anthony L., Sponseller, Paul D., Loeys, Bart, Dietz, Harry C.
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 01.08.2014
Elsevier Limited
Nature Publishing Group
Subjects
631/208/1516
692/699/1670/122
692/700/139
692/700/565
Biomedicine
Human Genetics
Humans
Laboratory Medicine
Loeys-Dietz Syndrome - diagnosis
Loeys-Dietz Syndrome - pathology
Loeys-Dietz Syndrome - physiopathology
Loeys-Dietz Syndrome - therapy
Practice Guidelines as Topic
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Summary:Loeys–Dietz syndrome is a connective tissue disorder predisposing individuals to aortic and arterial aneurysms. Presenting with a wide spectrum of multisystem involvement, medical management for some individuals is complex. This review of literature and expert opinion aims to provide medical guidelines for care of individuals with Loeys–Dietz syndrome. Genet Med 16 8, 576–587.
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ISSN:1098-3600
1530-0366
DOI:10.1038/gim.2014.11