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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics 2015;16(8):576-87

PMID: 24577266

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.

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