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• W2000593734 abstract "HomeCirculationVol. 119, No. 25Cardiac Involvement in Erdheim-Chester Disease Free AccessReview ArticlePDF/EPUBAboutView PDFView EPUBSections ToolsAdd to favoritesDownload citationsTrack citationsPermissionsDownload Articles + Supplements ShareShare onFacebookTwitterLinked InMendeleyReddit Jump toSupplementary MaterialsFree AccessReview ArticlePDF/EPUBCardiac Involvement in Erdheim-Chester DiseaseMagnetic Resonance and Computed Tomographic Scan Imaging in a Monocentric Series of 37 Patients Julien Haroche, MD, PhD, Philippe Cluzel, MD, PhD, Dan Toledano, MD, Gilles Montalescot, MD, PhD, Diane Touitou, MD, Philippe A. Grenier, MD, Jean-Charles Piette, MD and Zahir Amoura, MD Julien HarocheJulien Haroche From the Departments of Internal Medicine and French Reference Center for Rare Autoimmune and Systemic Diseases (J.H., J.C.P., Z.A.), Radiology (P.C., D. Toledano, D. Touitou, P.A.G.), and Cardiology (G.M.), Hôpital Pitié-Salpêtrière, Paris, France. Search for more papers by this author , Philippe CluzelPhilippe Cluzel From the Departments of Internal Medicine and French Reference Center for Rare Autoimmune and Systemic Diseases (J.H., J.C.P., Z.A.), Radiology (P.C., D. Toledano, D. Touitou, P.A.G.), and Cardiology (G.M.), Hôpital Pitié-Salpêtrière, Paris, France. Search for more papers by this author , Dan ToledanoDan Toledano From the Departments of Internal Medicine and French Reference Center for Rare Autoimmune and Systemic Diseases (J.H., J.C.P., Z.A.), Radiology (P.C., D. Toledano, D. Touitou, P.A.G.), and Cardiology (G.M.), Hôpital Pitié-Salpêtrière, Paris, France. Search for more papers by this author , Gilles MontalescotGilles Montalescot From the Departments of Internal Medicine and French Reference Center for Rare Autoimmune and Systemic Diseases (J.H., J.C.P., Z.A.), Radiology (P.C., D. Toledano, D. Touitou, P.A.G.), and Cardiology (G.M.), Hôpital Pitié-Salpêtrière, Paris, France. Search for more papers by this author , Diane TouitouDiane Touitou From the Departments of Internal Medicine and French Reference Center for Rare Autoimmune and Systemic Diseases (J.H., J.C.P., Z.A.), Radiology (P.C., D. Toledano, D. Touitou, P.A.G.), and Cardiology (G.M.), Hôpital Pitié-Salpêtrière, Paris, France. Search for more papers by this author , Philippe A. GrenierPhilippe A. Grenier From the Departments of Internal Medicine and French Reference Center for Rare Autoimmune and Systemic Diseases (J.H., J.C.P., Z.A.), Radiology (P.C., D. Toledano, D. Touitou, P.A.G.), and Cardiology (G.M.), Hôpital Pitié-Salpêtrière, Paris, France. Search for more papers by this author , Jean-Charles PietteJean-Charles Piette From the Departments of Internal Medicine and French Reference Center for Rare Autoimmune and Systemic Diseases (J.H., J.C.P., Z.A.), Radiology (P.C., D. Toledano, D. Touitou, P.A.G.), and Cardiology (G.M.), Hôpital Pitié-Salpêtrière, Paris, France. Search for more papers by this author and Zahir AmouraZahir Amoura From the Departments of Internal Medicine and French Reference Center for Rare Autoimmune and Systemic Diseases (J.H., J.C.P., Z.A.), Radiology (P.C., D. Toledano, D. Touitou, P.A.G.), and Cardiology (G.M.), Hôpital Pitié-Salpêtrière, Paris, France. Search for more papers by this author Originally published30 Jun 2009https://doi.org/10.1161/CIRCULATIONAHA.108.825075Circulation. 2009;119:e597–e598Erdheim-Chester disease (ECD) is a rare non-Langerhans form of histiocytosis, characterized by the xanthomatous infiltration of tissues with foamy CD68+/CD1a− histiocytes. By January 2009, >320 cases had been published in the medical literature. Bone pain is the most frequent symptom. Approximately half of patients have extraskeletal manifestations including exophthalmos, xanthelasma, interstitial lung disease, retroperitoneal “fibrosis” with perirenal or ureteral obstruction, renal failure, diabetes insipidus, and central nervous system and cardiovascular involvement. Interferon-α is the recommended first-line therapy but is decided after a case-by-case analysis.1Cardiovascular manifestations of ECD are underdiagnosed, as we have shown in our analysis in 2004 of the 178 cases known at that time.2 Among these, we analyzed 72 patients with cardiovascular involvement and found 54 (75%) with heart involvement: pericardial infiltration in 32 patients (44%) (leading to tamponade in 5 cases), myocardial infiltration in 22 cases (31%), a right atrial tumor in 6 patients, and a symptomatic valvular heart disease in 6 patients (3 aortic and 3 mitral regurgitations); 19 patients (26%) had heart failure, leading to death in 8 cases; myocardial infarction (MI) was reported in 6 cases, leading to death in 2. Forty of the 72 patients (56%) had a periaortic fibrosis, and 20 of these had a “coated aorta” aspect. Among the 58 patients (81%) with available follow-up, 35 (60%) died. Death was due to the cardiovascular involvement in 31% of the cases, confirming the severe prognosis of ECD with cardiovascular complications. The poor prognosis of ECD with cardiovascular involvement led us to systematically search for it. Frequency and pattern of cardiac involvement in ECD, detected by magnetic resonance imaging (MRI), gated computed tomographic (CT) scan of the heart, or both, which were thus far unknown, are presented in this report.Thirty-seven patients with ECD who were referred to the internal medicine department of our hospital between 1996 and September 2008 had a heart MRI, CT scan, or both. There were 25 male and 12 female patients, with a mean age at diagnosis of 52.3 years (range, 16 to 77 years). The analysis of the 37 chest x-rays showed a mild cardiomegaly in 2 patients and signs of right atrial enlargement in 3 patients. The aortic arch was enlarged in 1 patient. ECG data were available for 32 of the 37 patients. The ECG was normal in 12; remarkable findings were a short PR in 4 patients with in 1 case a PR at 7/100 with a sinoauricular block requiring a pacemaker, a sinus bradycardia in 3 other patients (in the absence of β-blockers), 2 more patients with ECG signs of left ventricular hypertrophy, 3 patients with Q-wave abnormalities compatible with a MI (but no history of MI), and 2 more patients with both Q waves and a clinical history of MI: One patient had ST-T abnormalities (from V1 to V4), and 1 had a slight ST elevation (<1 mm) in D1, D2, D3, VF, V5, and V6 with no past or present clinical history of pericarditis. Four patients had a pacemaker.Twenty-five (68%) of the 37 patients had MRI of the heart, and 31 (84%) had an injected chest CT scan, 25 of which had a heart-gated examination (68%). Sixteen patients (43%) had both heart MRI and gated CT scan. Five patients (14%) had contraindications for MRI: Four had pacemakers or defibrillators, and 1 had a ventriculoperitoneal shunt.In the present study, 26 patients (70%) had abnormal heart imaging. Eighteen patients (49%) exhibited abnormal infiltration of the right heart, 11 of whom (30%) had a “pseudo-tumoral” infiltration of the right atrium (Figure 1A and 1B), whereas 7 (19%) had an infiltration of the auriculoventricular sulcus (Figure 1C). Other remarkable findings were pericardial effusion in 9 patients (24%), pericardial thickening in 5 patients (14%) (Figure 2A) (1 with pericardial constriction [Figure 2B and Movie in the online-only Data Supplement] and 1 with gadolinium enhancement on MRI [Figure 2C]), periarterial infiltration of the left coronary artery in 10 patients (27%) (Figure 2D), and periarterial infiltration of the right artery (in the absence of pseudo-tumoral infiltration of the right atrium or of the auriculoventricular sulcus) in 2 patients (5%). Download figureDownload PowerPointFigure 1. ECG-gated, contrast-enhanced, multislice CT. A, Axial slice shows a mass (black arrowheads) surrounding the right coronary artery (white arrow). B, Curved multiplanar reformat reveals the extension along segment II of the right coronary artery. C, Late-enhancement cardiac MRI shows strong enhancement of a mass located in the right atrioventricular sulcus (white arrows) and at the posterior wall of the right atrium (white arrowheads).Download figureDownload PowerPointFigure 2. A, Late-enhancement cardiac MRI shows strong enhancement of both thickened pericardial layers. B, Still of short-axis real-time movie MRI during operator-guided breathing shows septal flattening during onset of inspiration, demonstrating pericardial constriction. C, Late-enhancement cardiac MRI shows strong enhancement of both thickened pericardial (white arrows) and pleural layers (white arrowheads). D, Curved planar reformation of a 64-detector computed coronary angiography shows large soft-tissue mass surrounding the proximal part of the left anterior descending artery (black arrows).Our series, which is to date the largest for ECD, illustrates the benefit of a systematic screening for cardiac infiltration. One of the striking findings of ECD is the high frequency of right atrial and auriculoventricular sulcus involvement. Infiltration of the right heart has been classically described in angiosarcoma3 and lymphoma.4 The pericardial thickening, which may lead to tamponade, the periarterial coronary infiltration (with 7 MI, 2 of which died), and the “pseudo-atrial” mass are notably very well seen on heart imaging. A systematic cardiac evaluation by MRI, CT scan, or both should be performed in ECD patients because these manifestations are not always clinically evident.The online-only Data Supplement is available with this article at http://circ.ahajournals.org/cgi/content/full/CIRCULATIONAHA.108.825075/DC1.DisclosuresNone.FootnotesCorrespondence to Dr Julien Haroche, Hôpital Pitié-Salpêtrière, 47-83 Boulevard de l’Hôpital, 75013 Paris, France. E-mail [email protected]References1 Haroche J, Amoura Z, Trad SG, Wechsler B, Cluzel P, Grenier PA, Piette JC. Variability in the efficacy of interferon-α in Erdheim-Chester disease by patient and site of involvement. Arthritis Rheum. 2006; 54: 3330–3336.CrossrefMedlineGoogle Scholar2 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 PA, 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 Scholar3 Keenan N, Davies S, Sheppard MN, Maceira A, Serino W, Mohiaddin RH. Angiosarcoma of the right atrium: a diagnostic dilemma. Int J Cardiol. 2006; 113: 425–426.CrossrefMedlineGoogle Scholar4 Luna A, Ribes R, Caro P, Vida J, Erasmus JJ. Evaluation of cardiac tumors with magnetic resonance imaging. Eur Radiol. 2005; 15: 1446–1455.CrossrefMedlineGoogle Scholar Previous Back to top Next FiguresReferencesRelatedDetailsCited By Kanakis M, Petrou P, Lourida G and Georgalas I (2022) Erdheim-Chester disease: a comprehensive review from the ophthalmologic perspective, Survey of Ophthalmology, 10.1016/j.survophthal.2021.05.013, 67:2, (388-410), Online publication date: 1-Mar-2022. 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