Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome)

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

Research output: Contribution to journalArticle

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

Fingerprint

Mucopolysaccharidosis VII
Pathology
Autopsy
Arteries
Tunica Intima
Papillary Muscles
Sudden Cardiac Death
Colloids
Left Ventricular Hypertrophy
Aortic Valve
Aorta
Iron
Staining and Labeling

Keywords

  • Autopsy
  • Mucopolysaccharidosis
  • Sly Syndrome

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine
  • Pathology and Forensic Medicine

Cite this

Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome). / Gniadek, Thomas J.; Singer, Nicole; Barker, Norman Joseph; Spevak, Philip J; Crain, Barbara J.; Valle, David; Halushka, Marc K.

In: Cardiovascular Pathology, Vol. 24, No. 5, 6847, 01.09.2015, p. 322-326.

Research output: Contribution to journalArticle

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