title: A rare histiocytosis with severe cardiac involvement: Erdheim-Chester disease.
abstract: The term histiocytosis covers various disorders that lead to primary proliferation, infiltration and accumulation of cells of the mononuclear-phagocytic system within the affected tissues. Its pathophysiology is still unclear and the clinical course variable, which explains the lack of specific treatment and the need for a high level of suspicion to arrive at the diagnosis. The authors present the case of a patient with a complex cardiological clinical history, recently referred for surgical treatment of severe mitral insufficiency. Severe thickening of both atrial walls made it impossible to proceed with the intervention. After a complex etiological evaluation, a diagnosis of Erdheim-Chester disease was made. This is a rare, non-Langerhans cell histiocytosis and, to our knowledge, this represents the first case reported in Portugal. The authors also review the literature, particularly of the few cases with cardiac involvement.
authors: Serviço de Cardiologia, Centro Hospitalar de Coimbra, Coimbra, Portugal. a.bota@clix.pt
authors: Ana
authors: A
authors: Botelho
authors: Alexandre
authors: A
authors: Antunes
authors: José Carlos
authors: JC
authors: Almeida
authors: Miguel
authors: M
authors: Abecasis
authors: Rosa Henriques
authors: RH
authors: de Gouveia
authors: Ana Paula
authors: AP
authors: Martins
authors: A M Leitão
authors: AM
authors: Marques
mesh_terms: D031249:Erdheim-Chester Disease / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D006331:Heart Diseases / Q000175:diagnosis / Q000209:etiology* / Q000628:therapy; D006801:Humans; D008297:Male; D008875:Middle Aged; D012720:Severity of Illness Index