title: Massive accumulation of glycosaminoglycans in the aortic valve of a patient with Hunter syndrome during enzyme replacement therapy.
abstract: This report describes the pathologic findings for a patient with Hunter syndrome who underwent aortic valve replacement at 10 years of age, 3 years after the initiation of enzyme replacement therapy. Aortic valve pathology showed mild thickening and fibrosis as well as massive glycosaminoglycan accumulation. This suggests that enzyme replacement therapy has limited efficacy for cardiac valve disease both clinically and pathologically.
authors: Department of Pediatrics, The Jikei University School of Medicine, 3-25-8 Nishi-shimbashi, Minato-ku, Tokyo, Japan, yoheisato@jikei.ac.jp.
authors: Yohei
authors: Y
authors: Sato
authors: Masako
authors: M
authors: Fujiwara
authors: Hiroshi
authors: H
authors: Kobayashi
authors: Hiroyuki
authors: H
authors: Ida
mesh_terms: D000792:Angiography; D001021:Aortic Valve / Q000737:chemistry* / Q000601:surgery / Q000648:ultrastructure; D001022:Aortic Valve Insufficiency / Q000209:etiology* / Q000378:metabolism / Q000601:surgery; D006328:Cardiac Catheterization; D002675:Child, Preschool; D003937:Diagnosis, Differential; D056947:Enzyme Replacement Therapy / Q000379:methods*; D006025:Glycosaminoglycans / Q000032:analysis*; D006350:Heart Valve Prosthesis; D006801:Humans; D008297:Male; D008854:Microscopy, Electron; D016532:Mucopolysaccharidosis II / Q000150:complications* / Q000188:drug therapy
chemical_list: D006025:Glycosaminoglycans
references: Mol Genet Metab. 2007 Mar;90(3):329-37
references: 17185020
references: Cardiol Young. 2009 Apr;19(2):170-8
references: 19195419
references: Heart Surg Forum. 2009 Jan;12(1):E54-6
references: 19233767
references: Genet Med. 2008 Jul;10(7):508-16
references: 18580692
references: Pediatrics. 2009 Dec;124(6):e1228-39
references: 19901005
references: J Inherit Metab Dis. 2011 Dec;34(6):1183-97
references: 21744090
references: Eur J Pediatr. 2008 Mar;167(3):267-77
references: 18038146
references: Genet Med. 2006 Aug;8(8):465-73
references: 16912578
references: Ann Thorac Surg. 2005 Nov;80(5):1911-2
references: 16242483