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Genet Med. 2014 Aug;16(8):576-87. doi: 10.1038/gim.2014.11. Epub 2014 Feb 27.

Loeys-Dietz syndrome: a primer for diagnosis and management.

Author information

1
McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
2
Division of Vascular Surgery and Endovascular Therapy, The Johns Hopkins Hospital, Baltimore, Maryland, USA.
3
Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
4
Department of Cardiac Surgery, Montreal Heart Institute, University of Montreal, Montreal, Quebec, Canada.
5
Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
6
Department of Orthopaedic Surgery, The Johns Hopkins University, Baltimore, Maryland, USA.
7
Center for Medical Genetics, University of Antwerp, Antwerp, Belgium.
8
1] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA [2] Howard Hughes Institute, Chevy Chase, Maryland, USA.

Abstract

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.

PMID:
24577266
PMCID:
PMC4131122
DOI:
10.1038/gim.2014.11
[Indexed for MEDLINE]
Free PMC Article
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