title: Loeys-Dietz syndrome: a primer for diagnosis and management.
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.
authors.affiliation: McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Gretchen
authors.initials: G
authors.lastname: MacCarrick
authors.affiliation: Division of Vascular Surgery and Endovascular Therapy, The Johns Hopkins Hospital, Baltimore, Maryland, USA.
authors.forename: James H
authors.initials: JH
authors.lastname: Black
authors.affiliation: Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, Ontario, Canada.
authors.forename: Sarah
authors.initials: S
authors.lastname: Bowdin
authors.affiliation: Department of Cardiac Surgery, Montreal Heart Institute, University of Montreal, Montreal, Quebec, Canada.
authors.forename: Ismail
authors.initials: I
authors.lastname: El-Hamamsy
authors.affiliation: Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Pamela A
authors.initials: PA
authors.lastname: Frischmeyer-Guerrerio
authors.affiliation: Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors.forename: Anthony L
authors.initials: AL
authors.lastname: Guerrerio
authors.affiliation: Department of Orthopaedic Surgery, The Johns Hopkins University, Baltimore, Maryland, USA.
authors.forename: Paul D
authors.initials: PD
authors.lastname: Sponseller
authors.affiliation: Center for Medical Genetics, University of Antwerp, Antwerp, Belgium.
authors.forename: Bart
authors.initials: B
authors.lastname: Loeys
authors.affiliation: 1] McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA [2] Howard Hughes Institute, Chevy Chase, Maryland, USA.
authors.forename: Harry C
authors.initials: HC
authors.lastname: Dietz
mesh_terms: D006801:Humans; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis* / Q000473:pathology / Q000503:physiopathology / Q000628:therapy*; D017410:Practice Guidelines as Topic