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

Abstract Text Erdheim-Chester disease (ECD) is a rare non-Langerhans histiocytic multisystem disorder. We report ECD diagnosis thanks to a endoscopic ultrasound-guided fine-needle heart biopsy (EUS-FNB). A linear EUS showed a large enlargement of right atrium and aorta. EUS-FNB of the right atrium was carried out with a 22G needle, using the slow-pull technique, without complications. Histology showed infiltration of lipid-laden foamy macrophages CD68 (+) consistent with ECD and the molecular analysys detected BRAFV600E mutation. Treatment with vemurafenib (BRAF inhibitor)was proposed. Endoscopic ultrasound guided heart biopsy allows the diagnosis of Erdheim-Chester disease and a tailored therapy based on the specific mutation.