title: Loeys-Dietz syndrome: cardiovascular, neuroradiological and musculoskeletal imaging findings.
abstract: Loeys-Dietz syndrome (LDS) is an increasingly recognized autosomal-dominant connective tissue disorder with distinctive radiological manifestations, including arterial tortuosity/aneurysms, craniofacial malformations and skeletal abnormalities. LDS exhibits a more aggressive course than similar disorders, such as Marfan or the vascular subtype of Ehlers-Danlos syndrome, with morbidity and mortality typically resulting from complications of aortic/arterial dissections. Early diagnosis, short-interval follow-up imaging and prophylactic surgical intervention are essential in preventing catastrophic cardiovascular complications. This review focuses on the cardiovascular, neuroradiological and musculoskeletal imaging findings in this disorder and recommendations for follow-up imaging.
authors.affiliation: Department of Diagnostic Radiology, Yale-New Haven Medical Center, Box 208042, Tompkins East 2, 333 Cedar St., New Haven, CT 06520-8042, USA.
authors.forename: Vivek B
authors.initials: VB
authors.lastname: Kalra
authors.forename: John W
authors.initials: JW
authors.lastname: Gilbert
authors.forename: Ajay
authors.initials: A
authors.lastname: Malhotra
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis*; D001847:Bone Diseases / Q000175:diagnosis*; D003952:Diagnostic Imaging / Q000379:methods*; D006801:Humans; D007592:Joint Diseases / Q000175:diagnosis*; D055947:Loeys-Dietz Syndrome / Q000175:diagnosis*; D009422:Nervous System Diseases / Q000175:diagnosis*