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J Med Case Rep. 2015 Jun 10;9:136. doi: 10.1186/s13256-015-0587-7.

Cardiac metabolomics and autopsy in a patient with early diffuse systemic sclerosis presenting with dyspnea: a case report.

Author information

1
Department of Internal Medicine, University of Utah and Veterans Affair Medical Center, Salt Lake City, UT, USA. Tracy.Frech@hsc.utah.edu.
2
University of Utah Department of Pathology, Salt Lake City, UT, USA. patricia.revelo@path.utah.edu.
3
Department of Medicine, Division of Cardiovascular Medicine, University of Utah, Salt Lake City, UT, USA. John.Ryan@hsc.utah.edu.
4
Johns Hopkins University School of Medicine, Baltimore, MD, USA. Ami.Shah@jhmi.edu.
5
Hospital for Special Surgery, New York, NY, USA. gordonJ@hss.edu.
6
University of Pittsburgh, Pittsburgh, PA, USA. rtd4@pitt.edu.
7
Medical University of South Carolina, Charleston, SC, USA. hant@musc.edu.
8
University of Texas, Houston, TX, USA. shervin.assassi@uth.tmc.edu.
9
George Washington University, Washington, DC, USA. vshanmugam@mfa.gwu.edu.
10
Northwestern University, Chicago, IL, USA. m-hinchcliff@northwestern.edu.
11
Georgetown University, Washington, DC, USA. steenv@georgetown.edu.
12
University of Michigan, Ann Arbor, MI, USA. khannad@med.umich.edu.
13
Columbia University, New York, NY, USA. ejb2153@cumc.columbia.edu.
14
Departments of Biochemistry and Metabolomics Core Facility, University of Utah School of Medicine, HSC Cores, Salt Lake City, UT, USA. jcox@cores.utah.edu.
15
University of Utah Department of Pathology, Salt Lake City, UT, USA. nick.luem@hsc.utah.edu.
16
Department of Medicine, Division of Cardiovascular Medicine, University of Utah, Salt Lake City, UT, USA. Stavros.Drakos@hsc.utah.edu.

Abstract

INTRODUCTION:

Diffuse systemic sclerosis is associated with high mortality; however, the pathogenesis of cardiac death in these patients is not clear.

CASE PRESENTATION:

A 56-year-old Caucasian female patient presented with dyspnea and requested to donate her body to science in order to improve understanding of diffuse systemic sclerosis pathogenesis. She had extensive testing for dyspnea including pulmonary function tests, an echocardiogram, cardiac magnetic resonance imaging, and right heart catheterization to characterize her condition. Her case highlights the morbidity seen in this disease, including the presence of extensive skin thickening, digital ulcerations, and scleroderma renal crisis.

CONCLUSION:

In this case report, we present the finding of cardiac tissue metabolomics, which may indicate a problem with vasodilation as a contributor to cardiac death in diffuse systemic sclerosis. The use of autopsy and tissue metabolomics in rare disease may help clarify disease pathogenesis.

PMID:
26055398
PMCID:
PMC4469401
DOI:
10.1186/s13256-015-0587-7
[Indexed for MEDLINE]
Free PMC Article

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