Acute Cardiac Tamponade in a 77-year-old Italian Woman with Erdheim-Chester Disease

Abstract

Erdheim-Chester disease (ECD) is a non-Langerhans' histiocytosisand a veryrare multisystemic disease of unknown aetiology, with skeletal involvement of the long bones and in more than 50% of cases with extraskeletal involvement. The disease was described in 1930 by the anatomopathologist Jakob Erdheim and his student William Chester. More than 500 cases have since been reported. We report the case of a 77-year-old Italian woman with ECD who was admitted to hospital for acute cardiac tamponade. The patient presented with simultaneous cutaneous, retro-orbital, skeletal, cerebral and cardiovascular manifestations and was successfully treated with corticosteroids followed by interferon.

Learning points: Erdheim-Chester disease (ECD) is a non-Langerhans' histiocytosisand a very rare multisystemic disease that is thought to be associated with cytokine disturbances.ECD has a variable prognosis but is poorer in those with heart involvement.First-line treatment involves the administration of interferon alpha.

Keywords: BRAF; Erdheim-Chester disease; interferon alpha; tamponade.

Figure 1

Bilateral exophthalmos and xanthogranuloma

Figure 2

Cardiac echography (PE, pericardial effusion; RA, right atrium; RV, right ventricle)

Figure 3

Chest radiogram showing cardiomegaly and mild bilateral pleural effusion

Figure 4

PET CT howing orbital, humeral, radial, trochanteric, femoral, colic and pleural FDG uptake and FDG uptake by the thoracic aorta, the pericardium, the right atrioventricular orifice and the left breast

Figure 5

Cardiac MRI showing pericardial thickening associated with delayed enhancement, delayed enhancement at the atrioventricular orifices, and circumferential non-transmural enhancement of the thoracic aortic wall (at the adventitia, sparing the muscular layer)