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

Frech, TM and Revelo, MP and Ryan, JJ and Shah, AA and Gordon, J and Domsic, R and Hant, F and Assassi, S and Shanmugam, VK and Hinchcliff, M and Steen, V and Khanna, D and Bernstein, EJ and Cox, J and Luem, N and Drakos, S (2015) Cardiac metabolomics and autopsy in a patient with early diffuse systemic sclerosis presenting with dyspnea: A case report. Journal of Medical Case Reports, 9 (1).

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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.

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Details

Item Type: Article
Status: Published
Creators/Authors:
CreatorsEmailPitt UsernameORCID
Frech, TM
Revelo, MP
Ryan, JJ
Shah, AA
Gordon, J
Domsic, Rrtd4@pitt.eduRTD4
Hant, F
Assassi, S
Shanmugam, VK
Hinchcliff, M
Steen, V
Khanna, D
Bernstein, EJ
Cox, J
Luem, N
Drakos, S
Date: 10 June 2015
Date Type: Publication
Journal or Publication Title: Journal of Medical Case Reports
Volume: 9
Number: 1
DOI or Unique Handle: 10.1186/s13256-015-0587-7
Schools and Programs: School of Medicine > Medicine
Refereed: Yes
Date Deposited: 17 Aug 2016 13:23
Last Modified: 30 Mar 2021 13:56
URI: http://d-scholarship.pitt.edu/id/eprint/29246

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