https://orcid.org/0000-0001-7413-8449
A 71-year-old woman with multi-organ involvement due to Erdheim–Chester disease (ECD) was admitted to our ward for a diagnostic workup. On clinical examination, she reported dyspnoea on exertion, weakness, long bone pain, and exophthalmos. Magnetic resonance imaging (MRI) reported a right-side, retro-orbital mass (Panel A, black arrows), positive, on biopsy, for non-Langerhans CD68+/CD1a− histiocytes. Extracardiac manifestations included ‘coated’ aorta, stenosis of the great vessels, thickening of the retroperitoneum, diabetes insipidus, and typical bone lesions characterized by bilateral uptake of 18F-fluorodeoxyglucose (FDG) in the distal metaphysis of femurs (Panel B, yellow arrows). Cardiac involvement showed typical features as pericardial thickness and effusion (Panel C, white asterisks and white arrow, respectively; cardiac computed tomography) and a pathognomonic finding: an inflammatory pseudo-tumour, a massive infiltration by histiocytes of the right atrial wall, isointense to the normal myocardium (Panel D, white asterisk; cardiac MRI) and characterized by abnormal uptake of FDG (Panel E, black arrow; cardiac PET). Computed tomography coronary angiography demonstrated the extension of the psuedo-tumour to the right atrioventricular sulcus with a resulting ab extrinseco compression of the right coronary artery (Panel F, white arrow). Erdheim–Chester disease is a rare but life-threatening disease, commonly affecting the heart. Engaging cardiologists in the early stage of caring for patients with ECD is essential to manage cardiac involvement optimally.
Supplementary data are not available at European Heart Journal online.
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