title: Cardiac metabolomics and autopsy in a patient with early diffuse systemic sclerosis presenting with dyspnea: a case report.
abstract: BACKGROUND
  Diffuse systemic sclerosis is associated with high mortality; however, the pathogenesis of cardiac death in these patients is not clear.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Internal Medicine, University of Utah and Veterans Affair Medical Center, Salt Lake City, UT, USA. Tracy.Frech@hsc.utah.edu.
authors.forename: Tracy M
authors.initials: TM
authors.lastname: Frech
authors.affiliation: University of Utah Department of Pathology, Salt Lake City, UT, USA. patricia.revelo@path.utah.edu.
authors.forename: Monica P
authors.initials: MP
authors.lastname: Revelo
authors.affiliation: Department of Medicine, Division of Cardiovascular Medicine, University of Utah, Salt Lake City, UT, USA. John.Ryan@hsc.utah.edu.
authors.forename: John J
authors.initials: JJ
authors.lastname: Ryan
authors.affiliation: Johns Hopkins University School of Medicine, Baltimore, MD, USA. Ami.Shah@jhmi.edu.
authors.forename: Ami A
authors.initials: AA
authors.lastname: Shah
authors.affiliation: Hospital for Special Surgery, New York, NY, USA. gordonJ@hss.edu.
authors.forename: Jessica
authors.initials: J
authors.lastname: Gordon
authors.affiliation: University of Pittsburgh, Pittsburgh, PA, USA. rtd4@pitt.edu.
authors.forename: Robyn
authors.initials: R
authors.lastname: Domsic
authors.affiliation: Medical University of South Carolina, Charleston, SC, USA. hant@musc.edu.
authors.forename: Faye
authors.initials: F
authors.lastname: Hant
authors.affiliation: University of Texas, Houston, TX, USA. shervin.assassi@uth.tmc.edu.
authors.forename: Shervin
authors.initials: S
authors.lastname: Assassi
authors.affiliation: George Washington University, Washington, DC, USA. vshanmugam@mfa.gwu.edu.
authors.forename: Victoria K
authors.initials: VK
authors.lastname: Shanmugam
authors.affiliation: Northwestern University, Chicago, IL, USA. m-hinchcliff@northwestern.edu.
authors.forename: Monique
authors.initials: M
authors.lastname: Hinchcliff
authors.affiliation: Georgetown University, Washington, DC, USA. steenv@georgetown.edu.
authors.forename: Virginia
authors.initials: V
authors.lastname: Steen
authors.affiliation: University of Michigan, Ann Arbor, MI, USA. khannad@med.umich.edu.
authors.forename: Dinesh
authors.initials: D
authors.lastname: Khanna
authors.affiliation: Columbia University, New York, NY, USA. ejb2153@cumc.columbia.edu.
authors.forename: Elana J
authors.initials: EJ
authors.lastname: Bernstein
authors.affiliation: Departments of Biochemistry and Metabolomics Core Facility, University of Utah School of Medicine, HSC Cores, Salt Lake City, UT, USA. jcox@cores.utah.edu.
authors.forename: James
authors.initials: J
authors.lastname: Cox
authors.affiliation: University of Utah Department of Pathology, Salt Lake City, UT, USA. nick.luem@hsc.utah.edu.
authors.forename: Nick
authors.initials: N
authors.lastname: Luem
authors.affiliation: Department of Medicine, Division of Cardiovascular Medicine, University of Utah, Salt Lake City, UT, USA. Stavros.Drakos@hsc.utah.edu.
authors.forename: Stavros
authors.initials: S
authors.lastname: Drakos
mesh_terms: D001344:Autopsy; D004417:Dyspnea / Q000209:etiology; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000150:complications; D055432:Metabolomics; D008875:Middle Aged; D009206:Myocardium / Q000378:metabolism / Q000473:pathology*; D045743:Scleroderma, Diffuse / Q000150:complications / Q000378:metabolism / Q000473:pathology*