A rare histiocytosis with severe cardiac involvement: Erdheim-Chester disease.
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.
Botelho
Ana
A
Serviço de Cardiologia, Centro Hospitalar de Coimbra, Coimbra, Portugal. a.bota@clix.pt
Antunes
Alexandre
A
Almeida
José Carlos
JC
Abecasis
Miguel
M
de Gouveia
Rosa Henriques
RH
Martins
Ana Paula
AP
Marques
A M Leitão
AM
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