Best Cases: Cardiac Masses-Cardiac MRI Manifestations of Erdheim-Chester Disease

Cardiac MRI Manifestations of Erdheim-Chester Disease

Video Transcription

Video Summary

A 52-year-old man with diabetes insipidus and hyperlipidemia developed recurrent large pericardial effusions and tamponade physiology. Pericardial biopsy showed atypical histiocytes consistent with Erdheim-Chester disease (ECD), a rare non-Langerhans histiocytic neoplasm. Cardiac MRI revealed right atrial pseudomasses, diffuse late gadolinium enhancement, thickened pericardium, and a “coated aorta” from periaortic infiltration. The presentation highlights that ECD often affects middle-aged men, may involve the heart in about 40% of cases, and can carry poor prognosis. Cardiac MRI is useful for recognizing these manifestations and guiding prompt treatment, including targeted therapy for BRAF V600E-positive disease.

Keywords

Erdheim-Chester disease

pericardial effusion

cardiac MRI

histiocytic neoplasm

BRAF V600E