: Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis, characterized by the involvement of several organs. The lesions may be skeletal or extra-skeletal: in particular, long bones, skin, lungs, and the cardiovascular and the central nervous systems can be affected. In this report, we describe a case of a 34-year-old man, who came to our observation with symptomatic ECD, for a correct assessment of the degree of cardiac involvement through magnetic resonance imaging (MRI)

Altiero, Michele

Barbuto, Luigi

Imbriaco, Massimo

Lubrano, Valentina

Ponsiglione, Andrea

Puglia, Marta

Solla, Raffaele

English

PubMed

Archivio della ricerca - Università degli studi di Napoli Federico II

Case ReportCardiac involvement in Erdheim-Chester disease: MRI findings andliterature revisionAndrea Ponsiglione1, Marta Puglia1, Luigi Barbuto1,Raffaele Solla2, Michele Altiero1, Valentina Lubrano1and Massimo Imbriaco1,2AbstractErdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis, characterized by the involvement ofseveral organs. The lesions may be skeletal or extra-skeletal: in particular, long bones, skin, lungs, and the cardiovascularand the central nervous systems can be affected. In this report, we describe a case of a 34-year-old man, who came toour observation with symptomatic ECD, for a correct assessment of the degree of cardiac involvement through magneticresonance imaging (MRI).KeywordsErdheim-Chester disease, histiocytosis, non-Langerhans, cardiac magnetic resonanceDate received: 27 December 2014; accepted: 28 May 2015IntroductionErdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis (1,2) that is characterizedby several clinical (3), radiological, and histopatho-logical findings. The highest incidence of the diseaseoccurs at the age of 40 years, with a subtle predomin-ance in men. The histology of ECD is characterized bythe presence of lipid-laden histiocytes (‘‘foamy histio-cytes’’) with surrounding fibrosis. The histiocytes areconsistently positive for CD68 and negative for CD1aand S100, and ultrastructural studies show no Birbeckgranules in contrast to the findings in Langherans cellhistiocytosis. The pathogenetic mechanisms of the ECDare not well defined, because it is a very rare entityinvolving a group of chemochine (4) and receptorsable to contribute to the cell recruitment, however,there is no evidence on the nature of mono-, oligo-,or polyclonal cells present in the infiltrate. Recent stu-dies have suggested a close relationship of this diseasewith the mechanism of signal transduction of Ras/Raf/MEK/ERK (5). ECD may present with a typical boneinvolvement and extra-skeletal manifestations invol-ving the central nervous system, retro-orbital tissue,cardiovascular system, lungs, liver, spleen,retroperitoneum, and skin. Clinical manifestationsinclude diabetes insipidus if the pituitary gland isaffected, dyspnea secondary to pulmonary or cardiacinvolvement, proptosis, ataxia, rash, fatigue, weightloss, and bone pain. The lack of knowledge of thepathogenic mechanisms results in a lack of a standar-dized therapy of proven efficacy. The prognosis of ECDin cases with multi-systemic manifestations remainspoor, with mortality rates of 60% after 32 months ofdiagnosis, mainly due to cardiopulmonary causes.Case reportA 34-year-old man, affected by ECD, was referred toour department for a correct assessment of the degreeof cardiac involvement through cardiac magnetic res-onance imaging (MRI). The patient presented with a1Department of Advanced Biomedical Sciences, University ‘‘Federico II’’,Naples, Italy2Institute of Biostructures and Bioimaging, National Research Council(CNR), Naples, ItalyCorresponding author:Andrea Ponsiglione, Via Pitloo 7/E, Naples, Italy.Email: andreaponsiglione@hotmail.itActa Radiologica Open4(9) 1–4! The Foundation Acta Radiologica2015Reprints and permissions:sagepub.co.uk/journalsPermissions.navDOI: 10.1177/2058460115592273arr.sagepub.comCreative Commons CC-BY-NC: This article is distributed under the terms of the Creative Commons Attribution-NonCommercial 3.0 License (http://www.creativecommons.org/licenses/by-nc/3.0/) which permits non-commercial use, reproduction and distribution of the work without further permission provided theoriginal work is attributed as specified on the SAGE and Open Access page (http://www.uk.sagepub.com/aboutus/openaccess.htm).medical history of bone, retroperitoneal, and orbitalinvolvement, without any cardiac symptoms. The finaldiagnosis of ECD was obtained from a biopsy of retro-peritoneal soft tissue that showed a mononuclear infil-trate consisting of lipid laden, non-Langheranshystiocytes with surrounding fibrosis, lacking Birbeckgranules, presenting a BRAF (V600E) mutation. MRIwas performed using a superconducting system 1.5 TMR (Gyroscan Intera, Philips Medical System, Best,The Netherlands) with a maximum gradient capabilityof 30mT/m and maximum slew rate of 150mT/ms. MRacquisition was triggered by ECG and included a T1-weighted (T1W) sequence and cine-MR images in theshort-axis, and vertical long-axis and horizontal long-axis planes for displaying cardiac contraction. STIR(short time inversion recovery) sequence was obtainedto suppress fatty tissue signal. Finally three-dimensional (3D) delayed enhancement 10, 15, and20min were acquired after an intravenous injection ofGd-DTPA at a dose of 0.1mmol/kg. MRI showed ahypointense tissue extending along the ventricularwalls and wrapping the free wall of the right atrium.This hypointense tissue also involved the inferior venacava at the junction with the right atrium, the proximalportion of the ascending aorta, the right coronaryartery, and right branch of the pulmonary artery(Figs 1 and 2). Bi-ventricular systolic function was pre-served without any alterations of global and segmentalkinesis (Fig. 3). A mild mitral insufficiency was found.STIR sequences did not show any area of edema orinflammation. Moreover, the pathological tissueshowed mild enhancement after intravenous adminis-tration of contrast material (Fig. 4). These findingswere consistent with a widespread cardiac involvementin a patient with ECD.The patient also showed involvement of both kid-neys that were surrounded by an inhomogeneoustissue that was hypointense to the contiguous structureson T2-weighted (T2W) MR images, showing mild con-trast enhancement on postcontrast T1W MR sequence(Fig. 5a and b).DiscussionECD affects the cardiovascular system in 75% ofpatients (6). Pericardial infiltration (7) is the mostFig. 2. Cardiac MRI cine-balanced fast field echo sagittal view,showing extensive hypointense tissue surrounding the ascendingaorta and the right ventricular chamber.Fig. 3. Cine video clip showing the involvement of the rightcoronary artery surrounded by the extensive hypointense tissueand extending through the atrio-ventricular groove, with pre-served right ventricular motion.Fig. 1. Cardiac MRI cine-balanced fast field echo four-chamberview, showing hypointense tissue surrounding the right coronaryartery and extending into the right atrio-ventricular groove.2 Acta Radiologica Open 4(9)frequent cardiac manifestation, giving rise to a varietyof symptoms and in some cases resulting in cardiactamponade (8). Myocardial structures (9), such asatrial and ventricular walls, coronary sulcus, andinteratrial septum can also be affected (10); pseudotu-moral infiltration of the right atrium is a rathercommon event. The valvular involvement can causeaortic and mitral regurgitation. Perivascular infiltrationof the aorta (‘‘coated aorta’’) can also be observed (11):fibrosis can extend from the ascending aorta to the iliacbifurcation or it can be limited to the thoracic orabdominal portion. The infiltration, that is more fre-quently peri-advential, appears isointense to muscle onT1 and T2 MR sequences. The left common carotidartery, left subclavian artery, pulmonary trunk, coron-ary arteries (12), and other abdominal vessels can beaffected as well. Cardiac MRI is a necessary tool for acorrect assessment of ECD. This technique, allows aprecise definition of localization and extension of thefibrotic involvement. An accurate evaluation of the car-diovascular system (13) is mandatory because ifaffected by ECD, the prognosis will get worse. Innearly 60% of cases death occurs because of cardiovas-cular complications (14) such as severe arrhythmias,cardiomyopathies, myocardial infarction, valve insuffi-ciency, and cardiac tamponade.Differential diagnosis of ECD includes cardiaclymphoma (15) and angiosarcoma (16); in our case,the presence of mild contrast enhancement on T1WMR sequence together with the presence on pathologyfindings of a mononuclear infiltrate consisting of lipidladen, non-Langherans hystiocytes with surroundingfibrosis, lacking Birbeck granules, allowed the correctfinal diagnosis of ECD, with unusual cardiacinvolvement.In conclusion, this report describes a rare case ofECD with cardiovascular and kidney involvement, cor-rectly assessed by MRI.References1. Mazor RD, Manevich-Mazor M, Shoenfeld Y. Erdheim-Chester disease: a comprehensive review of the literature.Orphanet J Rare Dis 2013;8:137.2. Simiele N, Novoa F, Rodriguez N. Erdheim-Chester dis-ease and Langerhans histiocytosis A fortuitous associ-ation?. Ann Med Int 2004;21:27–30.3. Sheu SY, Wenzel RR, Kersting C, et al. Erdheim-Chesterdisease: case report with multisystemic manifestationsincluding testes, thyroid, and lymph nodes, and a reviewof literature. J Clin Pathol 2004;57:1225–1228.4. Stoppacciaro A, Ferrarini M, Salmaggi C, et al.Immunohistochemical evidence of a cytokine and chemo-kine network in three patients with Erdheim-Chester dis-ease. Implications for pathogenesis. Arthritis Rheum 2006;54:4018–4022.5. Haroche J, Charlotte F, Arnaud L, et al. High prevalenceof BRAF V600Emutations in Erdheim-Chester disease butnot in other non-Langerhans cell histiocytoses. Blood2012;120:2700–2703.6. Botelho A, Antunes A, Almeida JC, et al. A rare histiocy-tosis with severe cardiac involvement: Erdheim-Chesterdisease. Rev Port Cardiol 2008;27:727–740.Fig. 5. Axial T2W (a) and postcontrast T1W MR (b) imagesshowing involvement of both kidneys that were surrounded by anextensive inhomogeneous tissue, which was hypointense to thecontiguous structures on T2W images, showing mild contrastenhancement on axial postcontrast T1W images.Fig. 4. Axial postcontrast T1W MR image showing mildenhancement of the hypointense tissue, surrounding the rightcoronary artery.Ponsiglione et al. 37. Gupta A, Kelly B, McGuigan JE. Erdheim-Chester dis-ease with prominent pericardial involvement: clinical,radiologic, and histologic findings. Am J Med Sci 2002;324:96–100.8. Jain P, Jepson N, Lawford R. Erdheim-Chester dis-ease presenting with large pericardial effusion: a mimicof disseminated malignancy. Intern Med J 2011;41:291–293.9. Loeffler AG, Memoli VA. Myocardial involvement inErdheim–Chester disease. Arch Pathol Lab Med 2004;128:682–685.10. Raptis DA, Raptis CA, Jokerst C, et al. Erdheim-Chesterdisease with interatrial septum involvement. J ThoracImaging 2011;27:W105–W107.11. Serratrice J, Granel B, De Roux C, et al. ‘‘Coated aorta’’:a new sign of Erdheim-Chester disease. J Rheumatol2000;27:1550–1553.12. Vaideeswar P, Vaz WF. Erdheim-Chester disease withextensive coronary arterial involvement. Pathology2011;43:375–378.13. Haroche J, Cluzel P, Toledano D, et al. Images in car-diovascular medicine. Cardiac involvement in Erdheim-Chester disease: magnetic resonance and computed tomo-graphic scan imaging in a monocentric series of 37patients. Circulation 2009;119:e597–e598.14. Masci PG, Zampa V, Barison A, et al. Cardiovascularinvolvement in Erdheim-Chester disease. Int J Cardiol2012;154:e24–e26.15. Heller MT, Haarer KA, Thomas E, et al. Neoplastic andproliferative disorders of the perinephric space. ClinRadiol 2012;67:e31–e41.16. Rajiah P, Sinha R, Cuevas C, et al. Imaging of uncom-mon retroperitoneal masses. Radiographics 2011;31:949–976.4 Acta Radiologica Open 4(9)

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

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

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