Cardiovascular involvement, an overlooked feature of Erdheim-Chester disease: report of 6 new cases and a literature review

Medicine (Baltimore). 2004 Nov;83(6):371-392. doi: 10.1097/


Erdheim-Chester disease (ECD) is a rare, non-Langerhans form of histiocytosis of unknown origin. It is characterized by xanthomatous or xanthogranulomatous infiltration of tissues by spumous ("foamy") histiocytes. As of this writing, 178 cases have been reported. ECD is characterized by heterogeneous systemic manifestations. Bone pain is the most frequent symptom. About half of all patients have extraskeletal manifestations. Cardiovascular manifestations of ECD remain underestimated. We report 6 new cases of ECD associated with periaortic fibrosis. In 4 of these cases, the whole aorta had a "coated" aspect. A literature review revealed 66 cases of ECD with cardiovascular involvement. We therefore analyzed 72 ECD patients with cardiovascular involvement: 40 (55.6%) had periaortic "fibrosis," 32 (44.4%) had pericardial involvement, and 22 (30.6%) had myocardial involvement. Six had a right atrial tumor. Symptomatic valvular heart disease (3 aortic and 3 mitral regurgitations) was found in 6 patients. Nineteen patients (26.4%) had heart failure, leading to death in 8 cases. Six patients had renovascular hypertension related to perirenal artery stenosis. Data concerning follow-up were available for 58 (80.6%) patients. Of these, 35 (60.3%) patients died, confirming the severe prognosis of ECD. Cardiovascular complications were responsible for the death of 11 of the 35 patients (31.4%).

Publication types

  • Review

MeSH terms

  • Adult
  • Aged
  • Aorta / pathology
  • Erdheim-Chester Disease / complications*
  • Erdheim-Chester Disease / mortality
  • Female
  • Fibrosis
  • Heart Diseases / etiology*
  • Humans
  • Hypertension, Renovascular / etiology
  • Male
  • Middle Aged
  • Renal Artery Obstruction / etiology