Erdheim-Chester Disease in a 48-Year-Old Woman with "an Unknown Tumor of the Heart": An Autopsy Report

Louise A. Lynggård*, Martin Agge Nørgaard, Lars Fog, Ulrik Baandrup

*Corresponding author for this work

Research output: Contribution to journalJournal articleResearchpeer-review

Abstract

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis. Erdheim-Chester disease is considered a potentially severe multisystemic disease with life-threatening manifestations due to the compression of normal structures. Recently, mutation of the proto-oncogene BRAF (BRAFV600E) has been found in 100% of cases. The common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, retroperitoneum, and skin. 

We present the autopsy case of a 48-year-old White woman with an unknown tumor of the heart, where finally autopsy revealed the diagnosis of ECD. The clinical, radiological, and pathological manifestations associated with ECD are highlighted.

Original languageEnglish
JournalAJSP: reviews & reports
Volume27
Issue number1
Pages (from-to)29-32
Number of pages4
ISSN2381-5949
DOIs
Publication statusPublished - Jan 2022

Bibliographical note

Publisher Copyright:
Copyright © 2022 Wolters Kluwer Health, Inc. All rights reserved.

Keywords

  • "coated aorta"
  • autopsy
  • BRAFmutation
  • case report
  • Erdheim-Chester disease

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