Loeys-Dietz syndrome: a primer for diagnosis and management

Gretchen MacCarrick; James H Black 3rd; Sarah Bowdin; Ismail El-Hamamsy; Pamela A Frischmeyer-Guerrerio; Anthony L Guerrerio; Paul D Sponseller; Bart Loeys; Harry C Dietz 3rd

doi:10.1038/gim.2014.11

Loeys-Dietz syndrome: a primer for diagnosis and management

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

Authors

Gretchen MacCarrick¹, James H Black 3rd², Sarah Bowdin³, Ismail El-Hamamsy⁴, Pamela A Frischmeyer-Guerrerio⁵, Anthony L Guerrerio⁵, Paul D Sponseller⁶, Bart Loeys⁷, Harry C Dietz 3rd⁸

Affiliations

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.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Humans
Loeys-Dietz Syndrome / diagnosis*
Loeys-Dietz Syndrome / pathology
Loeys-Dietz Syndrome / physiopathology
Loeys-Dietz Syndrome / therapy*
Practice Guidelines as Topic

Grants and funding

P30 DK089502/DK/NIDDK NIH HHS/United States