Endoscopic ultrasound guided heart biopsy, a minimally invasive method for the diagnosis of Erdheim Chester disease

Aims Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytic multisystem disorder. characterized by infiltration of lipid-laden foamy macrophages within different tissues: bone cardiovascular system, retroperitoneum, central nervous system and skin. Cardiac involvement in ECD is present in 60% of the patients and is associated with a poor prognosis. We report the case of a patient diagnosed with ECD thanks to a endoscopic ultrasound-guided fine-needle biopsy (EUS-FNB).

Methods A 60-year-old man presented with dyspnea after three years of asthenia, anorexia and involuntary weight loss. CT scan showed bilateral pulmonary thromboembolism with an extensive cardiovascular infiltration including right atrium. periaortic and superior vena cava. Thoracic radiologist raised the suspicion of EC disease vs. Ig G4 related disease. PET-CT, cardiac magnetic resonance (MRI) and a bone gammagraphy supported CT information.

Results A linear endoscopic ultrasound demonstrated a large hyperechoic enlargement of right atrium and thoracoabdominal aorta. EUS-guided fine-needle biopsy of the right atrium was carried out with a 22G needle, using the slow-pull technique. Procedure ended after three biopsy passes without any complications including pain, cardiac arrhythmias, hemodynamic instability or bleeding. Histology showed tissue infiltration of lipid-laden foamy macrophages CD68 (+) consistent with ECD and the molecular analysys detected BRAFV600E mutation. Treatment with vemurafenib (BRAF inhibitor) was proposed..

Conclusions Endoscopic ultrasound guided heart biopsy allows the diagnosis of Erdheim Chester disease and permits tailored therapy based on the specific mutation.

 

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Conflicts of interest

Authors do not have any conflict of interest to disclose.

Publikationsverlauf

Artikel online veröffentlicht:
14. April 2023