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Updated: Apr 11, 2026

Intra-cardiac Side-Firing Light Catheter for Monitoring Cellular Metabolism using Transmural Absorbance Spectroscopy of Perfused Mammalian Hearts
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Cardiac metabolomics and autopsy in a patient with early diffuse systemic sclerosis presenting with dyspnea: a case

Tracy M Frech1, Monica P Revelo2, John J Ryan3

  • 1Department of Internal Medicine, University of Utah and Veterans Affair Medical Center, Salt Lake City, UT, USA. Tracy.Frech@hsc.utah.edu.

Journal of Medical Case Reports
|June 10, 2015
PubMed

Insights

Diffuse systemic sclerosis (SSc) can cause cardiac death. Cardiac tissue metabolomics in an SSc patient suggests impaired vasodilation may contribute to this mortality.

Area of Science:

  • Cardiovascular Medicine
  • Rheumatology
  • Pathology

Background:

  • Diffuse systemic sclerosis (SSc) is a severe autoimmune disease with high mortality rates.
  • The specific mechanisms leading to cardiac death in SSc patients remain poorly understood.
  • Understanding SSc pathogenesis is crucial for improving patient outcomes.

Observation:

  • A 56-year-old female with diffuse SSc presented with dyspnea and extensive disease manifestations.
  • Comprehensive cardiac evaluations were performed, including pulmonary function tests, echocardiography, cardiac MRI, and right heart catheterization.
  • The patient elected to donate her body to science to further research SSc.

Findings:

  • Cardiac tissue metabolomics revealed potential abnormalities.
  • These metabolic findings may indicate impaired vasodilation as a contributing factor to cardiac dysfunction in SSc.
  • The study highlights the utility of autopsy and metabolomics in rare disease research.

Implications:

  • This case report offers novel insights into the cardiac pathology of diffuse SSc.
  • Metabolomic analysis of cardiac tissue may elucidate the pathogenesis of cardiac death in SSc.
  • Further research utilizing these methods could clarify disease mechanisms and inform therapeutic strategies.
Abstract

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