title: Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome).
abstract: We present the cardiac findings from the autopsy of a 28-year-old male with mucopolysaccharidosis VII (MPS VII), also known as Sly Syndrome, whose diagnosis was confirmed by biochemical testing. The patient died a sudden cardiac death. Autopsy showed thickened and stenotic aortic valve leaflets as well as marked concentric intimal thickening of the aorta and muscular arteries. There was left ventricular hypertrophy as well as mild papillary muscle thickening and fusion. Increased colloid iron staining was seen in the small- and medium-sized arteries of the heart and at the intercalated discs. We discuss the patient's premortem echocardiographic and electrocardiographic studies. In addition, we discuss the pathogenesis of MPS VII and review previous literature on its anatomic and pathologic features.
authors.affiliation: Department of Pathology, Johns Hopkins Hospital, Baltimore, MD 21205, USA.
authors.forename: Thomas J
authors.initials: TJ
authors.lastname: Gniadek
authors.affiliation: Department of Pathology, Johns Hopkins Hospital, Baltimore, MD 21205, USA.
authors.forename: Nicole
authors.initials: N
authors.lastname: Singer
authors.affiliation: Department of Pathology, Johns Hopkins Hospital, Baltimore, MD 21205, USA.
authors.forename: Norman J
authors.initials: NJ
authors.lastname: Barker
authors.affiliation: Department of Pediatrics, Division of Cardiology, Johns Hopkins Hospital, Baltimore, MD 21205, USA.
authors.forename: Philip J
authors.initials: PJ
authors.lastname: Spevak
authors.affiliation: Department of Pathology, Johns Hopkins Hospital, Baltimore, MD 21205, USA.
authors.forename: Barbara J
authors.initials: BJ
authors.lastname: Crain
authors.affiliation: Department of Medicine, Institute of Genetic Medicine, Johns Hopkins Hospital, Baltimore, MD 21205, USA.
authors.forename: David
authors.initials: D
authors.lastname: Valle
authors.affiliation: Department of Pathology, Johns Hopkins Hospital, Baltimore, MD 21205, USA. Electronic address: mhalush1@jhmi.edu.
authors.forename: Marc K
authors.initials: MK
authors.lastname: Halushka
mesh_terms: D000328:Adult; D001011:Aorta / Q000473:pathology*; D001344:Autopsy; D016757:Death, Sudden, Cardiac / Q000209:etiology / Q000473:pathology; D006351:Heart Valves / Q000473:pathology*; D006801:Humans; D008297:Male; D016538:Mucopolysaccharidosis VII / Q000150:complications / Q000473:pathology*; D009206:Myocardium / Q000473:pathology*
keywords: Autopsy; Mucopolysaccharidosis; Sly Syndrome