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

doi:10.1016/j.carpath.2015.06.001

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

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

10 Scopus citations

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 language	English (US)
Article number	6847
Pages (from-to)	322-326
Number of pages	5
Journal	Cardiovascular Pathology
Volume	24
Issue number	5
DOIs	https://doi.org/10.1016/j.carpath.2015.06.001
State	Published - Sep 1 2015

Bibliographical note

Funding Information:
Funding: MKH is supported by the American Heart Association 13GRNT16420015.

Publisher Copyright:
© 2015 Elsevier Inc.

Copyright:
Copyright 2016 Elsevier B.V., All rights reserved.

Keywords

Autopsy
Mucopolysaccharidosis
Sly Syndrome

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This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.carpath.2015.06.001

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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.",

keywords = "Autopsy, Mucopolysaccharidosis, Sly Syndrome",

author = "Gniadek, {Thomas J.} and Nicole Singer and Barker, {Norman J.} and Spevak, {Philip J.} and Crain, {Barbara J.} and David Valle and Halushka, {Marc K.}",

note = "Funding Information: Funding: MKH is supported by the American Heart Association 13GRNT16420015. Publisher Copyright: {\textcopyright} 2015 Elsevier Inc. Copyright: Copyright 2016 Elsevier B.V., All rights reserved.",

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doi = "10.1016/j.carpath.2015.06.001",

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T1 - Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome)

AU - Gniadek, Thomas J.

AU - Singer, Nicole

AU - Barker, Norman J.

AU - Spevak, Philip J.

AU - Crain, Barbara J.

AU - Valle, David

AU - Halushka, Marc K.

N1 - Funding Information: Funding: MKH is supported by the American Heart Association 13GRNT16420015. Publisher Copyright: © 2015 Elsevier Inc. Copyright: Copyright 2016 Elsevier B.V., All rights reserved.

PY - 2015/9/1

Y1 - 2015/9/1

N2 - 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.

AB - 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.

KW - Autopsy

KW - Mucopolysaccharidosis

KW - Sly Syndrome

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ER -

Cardiovascular pathologies in mucopolysaccharidosis type VII (Sly Syndrome)

Abstract

Bibliographical note

Keywords

UN SDGs

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