Cardiac Involvement in Erdheim-Chester Disease

Haroche, Julien; Cluzel, Philippe; Tolédano, Dan; Montalescot, Gilles; Touitou, D; Greniér, Philippe; Piette, Jean‐Charles; Amoura, Zahir

doi:10.1161/circulationaha.108.825075

Cited by 129 publications

(76 citation statements)

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“…3 Contrast-enhanced axial CT scan showing the origin of the superior mesenteric artery, which is stenosed. Note the "coated aorta" aspect, and the symmetrical infiltration of the perirenal fat and of the perirenal fascia taking the appearance of "hairy kidneys" patients who underwent systematic retrospective cardiovascular screening (MRI and/or heart CT scan) in 2009, 70 % had abnormal heart imaging results: abnormal infiltration of the right heart in 49 %, including 30 % with "pseudo-tumoral" infiltration of the right atrium, and infiltration of the auriculoventricular sulcus in 19 % [22].…”

Section: Cardiovascular Involvementmentioning

confidence: 99%

Erdheim–Chester Disease

et al. 2014

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Erdheim-Chester disease (ECD) is a rare (approximately 500 known cases worldwide), non-inherited, nonLangerhans form of histiocytosis of unknown origin, first described in 1930. It is characterized by xanthomatous or xanthogranulomatous infiltration of tissues by foamy histiocytes, "lipid-laden" macrophages, or histiocytes, surrounded by fibrosis. Diagnosis of ECD involves the analysis of histiocytes in tissue biopsies: these are typically foamy and CD68+ CD1a− in ECD, whereas in Langerhans cell histiocytosis (LCH) they are CD68+ CD1a+. 99 Technetium bone scintigraphy revealing nearly constant tracer uptake by the long bones is highly suggestive of ECD, and a "hairy kidney" appearance on abdominal CT scan is observed in approximately half of ECD cases. Central nervous system involvement is a strong prognostic factor and an independent predictor of death in cases of ECD. Optimum initial therapy for ECD seems to be administration of interferon α (or pegylated interferon α), and prolonged treatment significantly improves survival; however, tolerance may be poor. Cases of ECD present with strong systemic immune activation, involving IFNα, IL-1/IL1-RA, IL-6, IL-12, and MCP-1, consistent with the systemic immune Th-1-oriented disturbance associated with the disease. More than half of ECD patients carry the BRAF V600E mutation, an activating mutation of the protooncogene BRAF. A small number of patients harboring this mutation and with severe multisystemic and refractory ECD have been treated with vemurafenib, a BRAF inhibitor, which was proved very beneficial.

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Section: Cardiovascular Involvementmentioning

confidence: 99%

Erdheim–Chester Disease

et al. 2014

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“…Infiltration of the cardiovascular system can manifest itself as pericardial effusion, pericardial constriction, tamponade, congestive heart failure, right atrial pseudotumoral infiltration, valvular disorders, myocardial infarction due to coronary artery involvement, periaortic fibrosis, and renovascular hypertension due to renal artery stenosis. 4 Although the cardiovascular complications have a severe prognosis in ECD patients, 5 the symptoms can be subclinical and be overlooked unless a systematic cardiac evaluation is conducted. 5,6 In ECD, the mediastinal inf iltration often starts around the aorta and aortic branches.…”

Section: Fig 2 Multidetector Computed Tomographic Images A) Reformamentioning

confidence: 99%

“…4 Although the cardiovascular complications have a severe prognosis in ECD patients, 5 the symptoms can be subclinical and be overlooked unless a systematic cardiac evaluation is conducted. 5,6 In ECD, the mediastinal inf iltration often starts around the aorta and aortic branches. As a result, the most frequent cardiovascular evidence is periaortic circumferential tissue infiltration, known as a coated aorta.…”

Section: Fig 2 Multidetector Computed Tomographic Images A) Reformamentioning

confidence: 99%

“…[7][8][9] The aortic effects and fibrosis can extend from the ascending aorta down to the iliac bifurcation or be limited to the thoracic or abdominal aorta. 5 Unlike Takayasu arteritis and retroperitoneal f ibrosis, ECD infiltrates the periadventitial or perivascular area circumferentially, regularly forming a tissue with the same attenuation as muscle. (Nevertheless, the intima might appear to be irregular in computed tomographic images.…”

Section: Fig 2 Multidetector Computed Tomographic Images A) Reformamentioning

confidence: 99%

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Multidetector Computed Tomographic Imaging of Erdheim-Chester Disease

Yüceler

Kantarcı

Karabulut

et al. 2014

Texas Heart Institute Journal

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E rdheim-Chester disease (ECD) is a rarely reported form of multisystemic, non-Langerhans-cell histiocytosis. The clinical manifestations range from no symptoms to life-threatening conditions. Involvement of the bones, lungs, retro-orbital space, perirenal space, nervous system, cardiovascular system, and skin has particularly been observed. The cardiovascular involvement of ECD is probably more frequent than was originally thought; technological advances in multidetector computed tomography (MDCT) have enabled better views of patients' coronary arteries at low radiation doses. We report the case of a young woman in whom we used 256-slice, dual-source MDCT with high pitch value to evaluate the coronary arteries and reveal the effects of ECD. Case ReportIn April 2013, a previously healthy 29-year-old woman was referred to our hospital with a 3-month history of progressive angina. She had no history of other medical illnesses or familial diseases. Results of physical examination, laboratory tests, electrocardiography (ECG), and echocardiography were normal. To analyze her coronary arteries, we used a 256-slice Somatom ® Definition Flash MDCT system (Siemens Medical Solutions; Forchheim, Germany) with a high pitch value of 3.2. The patient's effective radiation dose was 1.1 mSv for the cardiac imaging. The MDCT angiogram revealed large mediastinal soft tissue with muscle attenuation surrounding the ascending aorta, extending into the proximal segment of the left main coronary artery, and causing stenosis by compressing the proximal segment of the left anterior descending coronary artery (Figs. 1 and 2). This periaortic effect resembles "coated aorta," associated with ECD. A specimen from a computed tomographic-guided biopsy of the mediastinal mass displayed fibrosis and many foamy histiocytes (CD68 + and CD1a -). The imaging and histologic findings supported the diagnosis of ECD. Skeletal radiographs showed no bone involvement, and thoracoabdominal computed tomograms and magnetic resonance images of the brain and orbit revealed no effect on those organs. The patient was referred for hemato-oncologic treatment. She was subsequently lost to follow-up. DiscussionTo our knowledge, this is the first report of the use of low-dose, dual-source, 256-slice multidetector computed tomography to characterize Erdheim-Chester disease

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“…Las anormalidades más frecuentes son: a) recubrimiento de la aorta por un manguito de tejido-pudiendo comprometer sus ramas; b) infiltración pericárdica, que puede manifestarse por pericarditis, derrame pericárdico, taponamiento cardiaco o pericarditis constrictiva. Menos frecuentemente se observa: c) infiltración miocár-dica-pudiendo originar insuficiencia cardiaca; d) infiltración de la aurícula derecha semejando un tumor cardiaco; e) infiltración de los sulcus aurículo-ventriculares, septum interauricular y lecho peri-coronario-pudiendo originar infartos; f) valvulopatías aórtica y mitral-produciendo regurgitación; g) anormalidades de la conducción o arritmias [3][4][5][6] . La falla cardiaca inducida por la fibrosis miocárdica y/o el compromiso pericárdico son las principales causas de muerte 7 .…”

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