Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome)

Thomas J. Gniadek, Nicole Singer, Norman J. Barker, Philip J. Spevak, Barbara J. Crain, David Valle, Marc K. Halushka

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Article number6847
Pages (from-to)322-326
Number of pages5
JournalCardiovascular Pathology
Volume24
Issue number5
DOIs
StatePublished - Sep 1 2015

Keywords

  • Autopsy
  • Mucopolysaccharidosis
  • Sly Syndrome

ASJC Scopus subject areas

  • Pathology and Forensic Medicine
  • Cardiology and Cardiovascular Medicine

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