@article{6a996d7b5a2e4f938d8c4995255a59a2,
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",
note = "Funding Information: 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. Publisher Copyright: {\textcopyright} 2015 Frech et al.",
year = "2015",
month = jun,
day = "10",
doi = "10.1186/s13256-015-0587-7",
language = "English (US)",
volume = "9",
journal = "Journal of Medical Case Reports",
issn = "1752-1947",
publisher = "BioMed Central",
number = "1",
}