Produção Nacional
Revisado por pares
Cardiac Involvement in Erdheim-Chester Disease
2018; Lippincott Williams & Wilkins; Volume: 11; Issue: 12 Linguagem: Alemão
10.1161/circimaging.118.008531
ISSN1942-0080
AutoresThiago Quinaglia, F. Medina, Celso Darío Ramos, Otávio R. Coelho‐Filho,
Tópico(s)Eosinophilic Disorders and Syndromes
ResumoHomeCirculation: Cardiovascular ImagingVol. 11, No. 12Cardiac Involvement in Erdheim-Chester Disease Free AccessCase ReportPDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissionsDownload Articles + Supplements ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toSupplemental MaterialFree AccessCase ReportPDF/EPUBCardiac Involvement in Erdheim-Chester DiseaseRare But Noteworthy Thiago Quinaglia-Silva, MD, PhD, Fernando Medina, MD, PhD, Celso Dario Ramos, MD, PhD and Otávio R. Coelho-Filho, MPH, MD, PhD Thiago Quinaglia-SilvaThiago Quinaglia-Silva Disciplina de Cardiologia, Departamento de Clínica Médica (T.Q.-S., O.R.C.F.), Faculdade de Ciências Médicas – Universidade Estadual de Campinas, São Paulo, Brazil. , Fernando MedinaFernando Medina Centro de Oncologia de Campinas, São Paulo, Brazil (F.M.). , Celso Dario RamosCelso Dario Ramos Serviço de Medicina Nuclear, Departamento de Radiologia (C.D.R.), Faculdade de Ciências Médicas – Universidade Estadual de Campinas, São Paulo, Brazil. and Otávio R. Coelho-FilhoOtávio R. Coelho-Filho Otávio R. Coelho-Filho MD, MPH, PhD, Division of Cardiology, Department of Medicine, State University of Campinas (UNICAMP), Rua Tessália Viera de Camargo, 126, Campinas - SP - Brasil - CEP 13083–887. Email E-mail Address: [email protected] Disciplina de Cardiologia, Departamento de Clínica Médica (T.Q.-S., O.R.C.F.), Faculdade de Ciências Médicas – Universidade Estadual de Campinas, São Paulo, Brazil. Originally published11 Dec 2018https://doi.org/10.1161/CIRCIMAGING.118.008531Circulation: Cardiovascular Imaging. 2018;11:e008531Erdheim-Chester disease is a systemic non-Langerhans histiocyte infiltration inflicting the heart in 40% to 75% of cases.1 Although <500 cases have been reported since 1930,2,3 prognosis is dismal. Mortality may reach up to 60% in 32 months, particularly when there is cardiac involvement.1 We describe a case of Erdheim-Chester disease with a classic presentation affecting the heart.A 68-year-old man with well-controlled hypertension presented to the emergency department with diffuse abdominal pain. Physical examination was unremarkable, and an initial abdominal ultrasound showed symmetrical infiltration of the perirenal fat and fascia taking the appearance of hairy kidneys. Subsequent abdominal computed tomography scan confirmed the perirenal and retroperitoneal infiltration and suggested concomitance of a large pericardial effusion. The patient underwent a guided biopsy of the retroperitoneal space which showed a xanthomatous infiltration, characterized by non-Langerhans foamy histiocytes (CD 68+, Factor XIIIa+, CD1a−, S100−), giant, and chronic inflammatory cells (Figure 1A, black arrow). The genomic evaluation revealed a BRAF (B-Raf proto-oncogene, serine/threonine kinase) V600E mutation endorsing the non-Langerhans nature of the histiocytosis and the diagnosis of Erdheim-Chester disease. A whole-body Positron-Emission Tomography/Computed Tomography (PET-CT Siemens Biograph II, Germany) demonstrated focal infiltration of the diaphyses of the femur and tibia (Figure 2) and also of the medulla oblongata, jugular vein walls, right atrium, aortic arch, and descending aorta (coated aorta), as well as of the adrenal glands and kidneys bilaterally.Download figureDownload PowerPointFigure 1. Biopsy of the retroperitoneal space which showed a xanthomatous infiltration, characterized by non-Langerhans foamy histiocytes (CD 68+, Factor XIIIa+, CD1a-, S100-), giant, and chronic inflammatory cells (A, black arrow). Infiltration with hypointense signal within the atrioventricular groove surrounding the right coronary artery, right atrium walls, interatrial septum (sparing the fossa ovalis) and peri-adventitial region of descending aorta (white arrows; B, white arrows), and a large pericardial effusion (asterisk) without signs of tamponade. Positron-emission tomography/computed tomography was performed before and after treatment and further merged with black blood T2-weighted cardiac magnetic resonance images showing reduction of disease activity (C and D, arrowheads) as demonstrated by fluordeoxiglucose F18 standardized uptake (atrial: 7.5, aorta: 7.6–pretreatment; atrial: 3.5, aorta: 3.3–posttreatment).Download figureDownload PowerPointFigure 2. Infiltration of the diaphyses of the tibia (detail in upper axial view and in lower) and femur (upper left white arrow in the lower). Diaphyses of long bones of the lower extremities are typically involved in Erdheim-Chester disease.To investigate cardiac involvement the patient underwent ECG (Figure I in the Data Supplement) and chest X-ray (Figure II in the Data Supplement), which were unremarkable, but echocardiogram confirmed the large pericardial effusion. A cardiac magnetic resonance revealed a typical Erdheim-Chester disease involvement (Figure 1B): infiltration with hypointense signal within the atrioventricular groove surrounding the right coronary artery, right atrium walls, interatrial septum (sparing the fossa ovalis), and peri-adventitial region of descending aorta (white arrows); cardiac magnetic resonance also demonstrated diffuse fibrosis by late gadolinium enhancement (Figure 3; Figure III in the Data Supplement) and a large pericardial effusion (asterisk) without signs of tamponade (Movie in the Data Supplement).Download figureDownload PowerPointFigure 3. Cine Steady State Free Procession (SSFP) images showing hypointense infiltration in the right atrioventricular groove surrounding the right coronary artery, posterior right atrium wall, and interatrial septum sparing the fossa ovalis (rigt arrows; A, in diastole; B, in systole). Cine-SSFP images also allow visualization of hyperintense pericardial effusion (asterisks). Black blood T2-weighted (C) images show slight hyperintensity within the soft tissue, which may correspond to edema. Details of T1-weighted images are shown in D.After confirmation of the diagnosis, the patient was started on Pegylated Interferon-Alfa and has completed 4 months of well-tolerated treatment, to date. Positron-emission tomography/computed tomography performed before and after treatment was further merged with black blood T2-weighted cardiac magnetic resonance images. The follow-up exam shows significant reduction of disease activity compared with baseline (Figure 1, arrowheads; Figure 1C, baseline; Figure 1D, treatment follow-up) as demonstrated by fluordeoxiglucose F18 standardized uptake (atrial: 7.5, aorta: 7.6−pretreatment; atrial: 3.5, aorta: 3.3−ongoing treatment).Awareness of the disease has increased, and new treatments have been reported with favorable outcomes, especially for those with a BRAF (V600) mutation. This mutation accounts for about 50% of the cases,4 and a specific Food and Drug Administration approved BRAF-inhibitor is available for first-line treatment.5 The pattern of cardiac involvement is usually easily recognizable, and a prompt diagnosis may allow deflagration of adequate management of the disease.DisclosuresNone.FootnotesThe Data Supplement is available at https://www.ahajournals.org/doi/suppl/10.1161/CIRCIMAGING.118.008531.Otávio R. Coelho-Filho MD, MPH, PhD, Division of Cardiology, Department of Medicine, State University of Campinas (UNICAMP), Rua Tessália Viera de Camargo, 126, Campinas - SP - Brasil - CEP 13083–887. Email [email protected]brReferences1. Ponsiglione A, Puglia M, Barbuto L, Solla R, Altiero M, Lubrano V, Imbriaco M. Cardiac involvement in Erdheim- Chester disease: MRI findings and literature revision.Acta Radiol Open. 2015; 4:2058460115592273. doi: 10.1177/2058460115592273CrossrefGoogle Scholar2. Cavalli G, Guglielmi B, Berti A, Campochiaro C, Sabbadini MG, Dagna L. The multifaceted clinical presentations and manifestations of Erdheim-Chester disease: comprehensive review of the literature and of 10 new cases.Ann Rheum Dis. 2013; 72:1691–1695. doi: 10.1136/annrheumdis-2012-202542CrossrefMedlineGoogle Scholar3. Haroche J, Amoura Z, Dion E, Wechsler B, Costedoat-Chalumeau N, Cacoub P, Isnard R, Généreau T, Wechsler J, Weber N, Graef C, Cluzel P, Grenier P, Piette JC. Cardiovascular involvement, an overlooked feature of Erdheim-Chester disease: report of 6 new cases and a literature review.Medicine (Baltimore). 2004; 83:371–392.CrossrefMedlineGoogle Scholar4. Haroche J, Charlotte F, Arnaud L, von Deimling A, Hélias-Rodzewicz Z, Hervier B, Cohen-Aubart F, Launay D, Lesot A, Mokhtari K, Canioni D, Galmiche L, Rose C, Schmalzing M, Croockewit S, Kambouchner M, Copin MC, Fraitag S, Sahm F, Brousse N, Amoura Z, Donadieu J, Emile JF. High prevalence of BRAF V600E mutations in Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses.Blood. 2012; 120:2700–2703. doi: 10.1182/blood-2012-05-430140CrossrefMedlineGoogle Scholar5. U.S. Food and Drug Administration. Highlights of Prescribing Information.https://www.accessdata.fda.gov/drugsatfda_docs/label/2017/202429s016lbl.pdf. Accessed October 15, 2018.Google Scholar Previous Back to top Next FiguresReferencesRelatedDetailsCited By Kanza R, Houle O, Simard P, St-Gelais J and Raymond C (2022) Cardiac and pleuropulmonary involvement in Erdheim-Chester disease without bone lesions: A case report, Radiology Case Reports, 10.1016/j.radcr.2021.11.056, 17:3, (525-530), Online publication date: 1-Mar-2022. Nicolas A and Vlad S (2021) Erdheim–Chester disease presenting as acute ischaemic cardiomyopathy and aortitis in a BRAF V600E-negative patient , Rheumatology Advances in Practice, 10.1093/rap/rkab047, 5:2, Online publication date: 4-May-2021. December 2018Vol 11, Issue 12 Advertisement Article InformationMetrics © 2018 American Heart Association, Inc.https://doi.org/10.1161/CIRCIMAGING.118.008531PMID: 30562109 Originally publishedDecember 11, 2018 Keywordskidneymagnetic ressonanceheartpositron-emission tomographyErdheim-Chester diseasePDF download Advertisement SubjectsImagingInflammatory Heart DiseaseMagnetic Resonance Imaging (MRI)Nuclear Cardiology and PET
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