Cardiac involvement in Erdheim- Chester disease: MRI findings and literature revision

Ponsiglione, Andrea; Puglia, Marta; Barbuto, Luigi; Solla, Raffaele; Altiero, Michele; Lubrano, Valentina; Imbriaco, Massimo

doi:10.1177/2058460115592273

Cited by 11 publications

(15 citation statements)

References 14 publications

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“…Although ECD most commonly manifests as non-Langerhans histiocytic infiltration of bones, extraskeletal involvement has been reported to occur in >50% of all cases and is associated with poor clinical prognosis ( 2 , 3 ). Common sites of extraskeletal involvement include the cardiovascular system, retro-orbital tissue, lung, liver, spleen, retroperitoneum, and skin ( 4 ). Cardiovascular involvement in ECD has been reported to occur in up to 75% of all patients ( 4 ).…”

Section: Discussionmentioning

confidence: 99%

“…Common sites of extraskeletal involvement include the cardiovascular system, retro-orbital tissue, lung, liver, spleen, retroperitoneum, and skin ( 4 ). Cardiovascular involvement in ECD has been reported to occur in up to 75% of all patients ( 4 ). This most commonly manifests as infiltration of the pericardium and myocardium with a tendency to involve the right atrial myocardium, often with a pseudotumor appearance ( 5 , 6 ).…”

Section: Discussionmentioning

confidence: 99%

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Erdheim-Chester Disease

et al. 2020

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Erdheim-Chester Disease

et al. 2020

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“…The most frequent manifestation is the coated aorta which is visualized on CT as circumferential soft tissue sheathing of the thoracic and abdominal aorta. Other cardiac manifestations include pericardial effusions, pseudotumor of the right atrium in 30% of the cases, myocardial infarction, and pulmonary hypertension [ 3 , 4 ].…”

Section: Discussionmentioning

confidence: 99%

Erdheim-Chester Disease with No Skeletal Bone Involvement and Massive Weight Loss

Salama

Kojan

Abdulrahman

et al. 2017

Case Reports in Hematology

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Erdheim-Chester disease (ECD) is a rare type of non-Langerhans cell histiocytosis, with only 550 cases reported worldwide. ECD is characterized by diffuse histiocytic infiltration of multiorgans. The age of presentation of this disease is typically between 40 and 70 years. Bone disease is the most common symptom, as unique radiological findings of long bone sclerosis occur in 96% of cases. Furthermore, BRAF V600E mutation is detected in 60% of ECD cases. In this manuscript, we are describing a unique case of ECD; the patient is younger than most reported cases and has no bone pain or any skeletal involvement. This patient has unintentionally lost about 50% of his body mass and is suffering from progressive cerebellar manifestations with radiological evidence of cerebellar atrophy, in contrast to the usual ECD manifestation of cerebellar infiltration. In addition, the patient has cardiac, retroperitoneal, and perinephric involvement, but he retains his sexual drive and fertility. A tissue biopsy from the retroperitoneal mass displayed typical morphological and immunohistochemical features of ECD, and BRAF V600E mutation was detected. He was treated with pegylated interferon alpha, but his disease progressed and the treatment was changed to vemurafenib to which he had an excellent response at 6 weeks.

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“…Cardiovascular involvement is often asymptomatic. For this reason, many authors recommend an extensive work-up using cardiac MRI, CT scan and echocardiography to rule out involvement of the cardiovascular system 6. Central nervous system involvement is an independent predictor of inferior survival and requires aggressive treatment even in asymptomatic or mild disease 11…”

Section: Discussionmentioning

confidence: 99%

An unusual case of interstitial lung disease in a patient with cardiopulmonary syndrome as the initial presentation of Erdheim-Chester disease

Franco-Palacios¹,

McDonald

Aguillard

et al. 2017

BMJ Case Reports

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Erdheim-Chester disease (ECD) is a very rare disorder with only approximately 600 cases reported in the literature. ECD has been recently reclassified as a histiocytic dendritic cell neoplasm. The clinical spectrum ranges from asymptomatic tissue accumulation of histiocytes to invasive tissue infiltration, which can cause fulminant multisystem failure. It typically presents with bone pain and constitutional symptoms. Extraosseous manifestations are not uncommon. ECD-associated interstitial lung disease has been described in 20%-35% of patients. Diagnosis is primarily by tissue biopsy and immunohistochemistry showing xanthogranulomas composed of foamy histiocytes that stain positive for CD68, CD14 and CD163 and negative for CD1á and langerin. We report a case of ECD in a young man with cardiopulmonary involvement who presented with haemoptysis and dyspnoea.

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Cardiac involvement in Erdheim- Chester disease: MRI findings and literature revision

Cited by 11 publications

References 14 publications

Erdheim-Chester Disease

Erdheim-Chester Disease

Erdheim-Chester Disease with No Skeletal Bone Involvement and Massive Weight Loss

An unusual case of interstitial lung disease in a patient with cardiopulmonary syndrome as the initial presentation of Erdheim-Chester disease

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