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

Tracy M. Frech; Monica P. Revelo; John J. Ryan; Ami A. Shah; Jessica Gordon; Robyn Domsic; Faye Hant; Shervin Assassi; Victoria K. Shanmugam; Monique Hinchcliff; Virginia Steen; Dinesh Khanna; Elana J. Bernstein; James Cox; Nick Luem; Stavros Drakos

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

Tracy M. Frech^*, Monica P. Revelo, John J. Ryan, Ami A. Shah, Jessica Gordon, Robyn Domsic, Faye Hant, Shervin Assassi, Victoria K. Shanmugam, Monique Hinchcliff, Virginia Steen, Dinesh Khanna, Elana J. Bernstein, James Cox, Nick Luem, Stavros Drakos

^*Corresponding author for this work

Medicine, Rheumatology Division

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

6 Scopus citations

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.

Original language	English (US)
Article number	136
Journal	Journal of Medical Case Reports
Volume	9
Issue number	1
DOIs	https://doi.org/10.1186/s13256-015-0587-7
State	Published - Jun 10 2015

Funding

TMF was supported by the National Center for Research Resources and the National Center for Advancing Translational Sciences, National Institutes of Health (NIH), through Grant 8UL1TR000105 (formerly UL1RR025764). AAS was supported by award number K23 AR061439. RTD was supported by NIH NIAMS K23 AR057845. SA was supported by K23 AR061436. VKS was supported by award numbers KL2RR031974 and UL1RR031975 from the National Center for Research Resources and award R01NR013888 from the National Institute of Nursing Research. DK was supported by NIH/NIAMS K24 AR063120. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Center for Research Resources or the NIH. SD was supported by the Doris Duke Foundation Clinical Scientist Grant 2013108, Deseret Foundation #00571 and the National Institutes of Health National Center for Research Resources grant that supports the Center Clinical Translational Sciences UL1-RR025764/ C06-RR11234.

Keywords

Autopsy
Metabolomics
Scleroderma
Systemic sclerosis

ASJC Scopus subject areas

General Medicine

UN SDGs

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

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10.1186/s13256-015-0587-7

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Frech, T. M., Revelo, M. P., Ryan, J. J., Shah, A. A., Gordon, J., Domsic, R., Hant, F., Assassi, S., Shanmugam, V. K., Hinchcliff, M., Steen, V., Khanna, D., Bernstein, E. J., Cox, J., Luem, N., & 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), Article 136. https://doi.org/10.1186/s13256-015-0587-7

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

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.",

keywords = "Autopsy, Metabolomics, Scleroderma, Systemic sclerosis",

author = "Frech, {Tracy M.} and Revelo, {Monica P.} and Ryan, {John J.} and Shah, {Ami A.} and Jessica Gordon and Robyn Domsic and Faye Hant and Shervin Assassi and Shanmugam, {Victoria K.} and Monique Hinchcliff and Virginia Steen and Dinesh Khanna and Bernstein, {Elana J.} and James Cox and Nick Luem and Stavros Drakos",

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Frech, TM, Revelo, MP, Ryan, JJ, Shah, AA, Gordon, J, Domsic, R, Hant, F, Assassi, S, Shanmugam, VK, Hinchcliff, M, Steen, V, Khanna, D, Bernstein, EJ, Cox, J, Luem, N & 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, vol. 9, no. 1, 136. https://doi.org/10.1186/s13256-015-0587-7

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AU - Frech, Tracy M.

AU - Revelo, Monica P.

AU - Ryan, John J.

AU - Shah, Ami A.

AU - Gordon, Jessica

AU - Domsic, Robyn

AU - Hant, Faye

AU - Assassi, Shervin

AU - Shanmugam, Victoria K.

AU - Hinchcliff, Monique

AU - Steen, Virginia

AU - Khanna, Dinesh

AU - Bernstein, Elana J.

AU - Cox, James

AU - Luem, Nick

AU - Drakos, Stavros

PY - 2015/6/10

Y1 - 2015/6/10

N2 - 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.

AB - 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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KW - Scleroderma

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

Abstract

Funding

Keywords

ASJC Scopus subject areas

UN SDGs

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