Abstract
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis of unknown etiology characterized by proliferation of lipid-containing foamy histiocytes affecting bones and potentially every organ. There is a wide clinical spectrum of the disease, ranging from asymptomatic bone or soft-tissue lesions to life-threatening systemic involvement. Although the initial descriptions published by Jakob Erdheim and William Chester in 1930 included a patient with right atrial infiltration on autopsy, cardiovascular involvement in ECD has only gained more recognition recently. In the present report, we describe a case with cardiac involvement, presenting with symptomatic heart failure and a cardiac mass assessed with echocardiogram and cardiac magnetic resonance imaging.
Highlights
CASE REPORT A 50-year-old female patient, previously asymptomatic, with hypertension, type-2 diabetes, chronic kidney disease, and Erdheim-Chester disease (ECD) was admitted due to progressive dyspnea (NYHA class III), orthopnea, and paroxysmal nocturnal dyspnea, which started one month earlier
ECD is a rare non-Langerhans cell histiocytosis of unknown etiology characterized by proliferation of lipid-containing foamy histiocytes affecting bones and potentially every organ[1]
Clinical manifestations may be protean and are attributable to the functional compromise of organs by histiocytic infiltration leading to arterial constriction, which results in end-organ atrophy or failure
Summary
Rua Ramiro Barcelos, 2350. 90035-903, Porto Alegre, RS, Brazil. CASE REPORT A 50-year-old female patient, previously asymptomatic, with hypertension, type-2 diabetes, chronic kidney disease, and Erdheim-Chester disease (ECD) was admitted due to progressive dyspnea (NYHA class III), orthopnea, and paroxysmal nocturnal dyspnea, which started one month earlier. ECD diagnosis was established seven years earlier after the results of a biopsy of a bone lesion in the right tibia. The patient had been diagnosed with retroperitoneal fibrosis and eye xanthogranuloma, both related to ECD, and had been treated with prednisone and interferon-α since the diagnosis. Transthoracic echocardiography was performed (figure 2) and showed an ejection fraction of 47%, eccentric hypertrophy, mild diffuse hypokinesia, thickening of the interatrial septum and of the posterior wall of the right atrium, referred as lipomatous hypertrophy of the interatrial septum, and a large pericardial effusion, without signs of high intrapericardial pressure. To assess the left atrium and interatrial septum and showed abnormal soft tissue thickening of the posterior wall of the right atrium and of the right atrioventricular groove, consistent with cardiac involvement of ECD. Because of the typical appearance of the cardiac MRI findings, a cardiac biopsy was deemed unnecessary
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