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Review
. 2019 Dec;92(1104):20190473.
doi: 10.1259/bjr.20190473. Epub 2019 Aug 14.

Cardiothoracic manifestations of Erdheim-Chester disease

Jeeban Paul Das  1 , Lola Xie  1 , Chris C Riedl  1 , Sara A Hayes  1 , Michelle S Ginsberg  1 , Darragh F Halpenny  1
Affiliations
Review

Cardiothoracic manifestations of Erdheim-Chester disease

Jeeban Paul Das et al. Br J Radiol. 2019 Dec.

Abstract

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis which can have a broad range of clinical and radiological presentations. Typically, ECD affects multiple organ systems, with skeletal involvement present in almost all ECD patients and cardiothoracic manifestations in more than half. Cardiac and thoracic involvement contributes significantly to morbidity and mortality in affected patients and may have prognostic implications. The diagnosis of ECD can be challenging due to its rarity and similarity to other systemic disease processes. Although the diagnosis can be suggested on imaging, histopathology and immunohistochemistry are required for confirmation. We describe the multimodal imaging features of mediastinal, cardiac, pleural and lung parenchymal ECD. This review identifies the most common radiological manifestations of cardiac and thoracic ECD on contrast-enhanced CT, fluorine18-fludeoxyglucose positron emission tomography/CT and cardiac MRI, and highlights the role of these cross-sectional techniques in disease diagnosis.

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Figures

Figure 1.
Figure 1.
Axial b-SSFP (b-SSFP) pulse sequence (A) and gadolinium enhanced T1 weighted (B) cardiac MR images showing diffusely thickened pericardium, particularly along the left ventricle free wall demonstrating post-contrast enhancement (arrows). b-SSFP,balanced steady state free precession.
Figure 2.
Figure 2.
Axial oblique b-SSFP cardiac MR images showing focal hypointense thickening of the right atrial wall (A) and atrioventricular groove (B). b-SSFP, balanced steady state free precession.
Figure 3.
Figure 3.
Select axial oblique b-SSFP pulse sequence cardiac MR images (A, B) exhibiting hypointense soft-tissue infiltration encasing the right coronary artery. b-SSFP, balanced steady state free precession.
Figure 4.
Figure 4.
Axial contrast-enhanced CT (A) and fused axial PET/CT (B) images demonstrating right atrial "pseudotumour" showing patchy heterogenous FDG uptake (arrows) in a patient with biopsy-proven ECD. ECD, Erdheim-Chester disease; FDG, fludeoxyglucose; PET, positron emissiontomography.
Figure 5.
Figure 5.
Axial oblique b-SSFP pulse sequence MRI (A) and contrast-enhanced CT (B) and FDG PET/CT (C) images showing vascular "sheathing" of the aortic arch, which demonstrates mild FDG uptake with an SUVmax of 2.8. b-SSFP, balanced steady state free precession; ECD, Erdheim-Chester disease; FDG, fludeoxyglucose; PET, positron emission tomography; SUV max, maximum standardized uptake value.
Figure 6.
Figure 6.
Axial contrast-enhanced CT showing soft tissue "sheathing" of the descending aorta (A) demonstrating moderately intense FDG uptake on FDG PET/CT (B). FDG, fludeoxyglucose; PET, positron emission tomography.
Figure 7.
Figure 7.
Axial oblique b-SSFP pulse sequence (A) and gadolinium-enhanced T1 (B) cardiac MR images showing hypointense soft tissue infiltration of the pulmonary artery trunk demonstrating moderate post-contrast enhancement (arrows). b-SSFP, balanced steady state free precession.
Figure 8.
Figure 8.
Contrast-enhanced axial CT (A) and axial PET/CT (B) images showing soft tissue infiltration of the posterior mediastinum (arrow) demonstrating FDG uptake with SUVmax 4.6. FDG, fludeoxyglucose; PET, positron emission tomography; SUV max, maximumstandardized uptake value.
Figure 9.
Figure 9.
Axial non-contrast CT (A) and corresponding FDG PET/CT (B) exhibiting upper right paratracheal lymphadenopathy demonstrating intense FDG uptake with SUVmax 7.4. FDG, fludeoxyglucose; PET, positron emission tomography; SUV max, maximumstandardized uptake value.
Figure 10.
Figure 10.
Axial contrast-enhanced CT (A) and FDG PET/CT showing thickened left lower lobe posterior pleura with mild uptake of FDG (SUVmax 2.1). FDG, fludeoxyglucose; PET, positron emission tomography; SUV max, maximumstandardized uptake value.
Figure 11.
Figure 11.
Selected lung windowed images from non-contrast CT showing diffuse, bilateral interlobular septal thickening, fissural thickening (B) and small left pleural effusion in a patient with biopsy proven ECD. ECD, Erdheim-Chester disease.
Figure 12.
Figure 12.
Axial lung window chest CT (A) and FDG PET/CT (B) images showing an FDG-avid subpleural right upper lobe pulmonary nodule. Histopathology demonstrated histiocytes and foamy macrophages consistent with ECD. ECD, Erdheim-Chester disease; FDG, fludeoxyglucose; PET, positron emissiontomography.
Figure 13.
Figure 13.
Fused PET/CT (A), contrast enhanced CT (B) and PET images (C) demonstrating patchy uptake in myocardium in a patient with cardiac ECD prior to treatment with BRAFV600E inhibitor with subsequent resolution of abnormal uptake observed on interval follow-up imaging at 3 months (D, E, F). ECD, Erdheim-Chester disease; PET, positron emissiontomography.
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References

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