Document Type

Journal Article

Publication Date

2015

Journal

Journal of medical case reports

Volume

9

Inclusive Pages

136

DOI

10.1186/s13256-015-0587-7

Keywords

Metabolomics; Myocardium--pathology; Scleroderma, Diffuse--pathology

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.

Comments

Reproduced with permission of BioMed Central. Journal of Medical Case Reports.

Creative Commons License

Creative Commons License
This work is licensed under a Creative Commons Attribution 4.0 License.

Peer Reviewed

1

Open Access

1

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