Conclusion:
This case highlights the diagnostic challenges encountered in infiltrative cardiac masses and the importance of considering rare diseases, such as Erdheim-Chester, in the differential diagnosis. Multimodal imaging, genetic testing, and histo-pathological examination were instrumental in reaching an accurate diagnosis. A multi-disciplinary approach involving multiple specialties and tailored treatment strategies is also necessary for optimal management.
Further research and collaboration are needed to enhance our understanding of Erdheim-Chester disease and to improve patient outcomes..
1. Giulio C, Barbara G, Alvise B, Corrado C, Maria Grazia S, Lorenzo D. The multifaceted clinical presentations and manifestations of Erdheim–Chester disease: comprehensive review of the literature and of 10 new cases. Annals of the Rheumatic Diseases. 2013;72(10):1691.
2. Arnaud L, Gorochov G, Charlotte F, Lvovschi V, Parizot C, Larsen M, et al. Systemic perturbation of cytokine and chemokine networks in Erdheim-Chester disease: a single-center series of 37 patients. Blood. 2011;117(10):2783-90.
3. Haroche J, Cohen-Aubart F, Amoura Z. Erdheim-Chester disease. Blood. 2020;135(16):1311-8.
4. Cohen-Aubart F, Emile JF, Carrat F, Helias-Rodzewicz Z, Taly V, Charlotte F, et al. Phenotypes and survival in Erdheim-Chester disease: Results from a 165-patient cohort. Am J Hematol. 2018;93(5):E114-e7.
5. Picarsic J, Pysher T, Zhou H, Fluchel M, Pettit T, Whitehead M, et al. BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester disease. Acta Neuropathol Commun. 2019;7(1):168.
6. Haroche J, Cohen-Aubart F, Emile JF, Arnaud L, Maksud P, Charlotte F, et al. Dramatic efficacy of vemurafenib in both multisystemic and refractory Erdheim-Chester disease and Langerhans cell histiocytosis harboring the BRAF V600E mutation. Blood. 2013;121(9):1495-500.
7. Diamond EL, Dagna L, Hyman DM, Cavalli G, Janku F, Estrada-Veras J, et al. Consensus guidelines for the diagnosis and clinical management of Erdheim-Chester disease. Blood. 2014;124(4):483-92.
8. Gianfreda D, Palumbo AA, Rossi E, Buttarelli L, Manari G, Martini C, et al. Cardiac involvement in Erdheim-Chester disease: an MRI study. Blood. 2016;128(20):2468-71.
9. Vargas D, Richards JC, Ocazionez D, Sirajuddin A, Browne L, Restrepo CS. Cardiothoracic manifestations of primary histiocytoses. Br J Radiol. 2016;89(1068):20160347.
10. Emile J-F, Abla O, Fraitag S, Horne A, Haroche J, Donadieu J, et al. Revised classification of histiocytoses and neoplasms of the macrophage-dendritic cell lineages. Blood. 2016;127(22):2672-81.
11. Swerdlow SH, Campo E, Pileri SA, Harris NL, Stein H, Siebert R, et al. The 2016 revision of the World Health Organization classification of lymphoid neoplasms. Blood. 2016;127(20):2375-90.
12. Brun A-L, Touitou-Gottenberg D, Haroche J, Toledano D, Cluzel P, Beigelman-Aubry C, et al. Erdheim-Chester disease: CT findings of thoracic involvement. European Radiology. 2010;20(11):2579-87.
13. Egan AJM, Boardman LA, Tazelaar HD, Swensen SJ, Jett JR, Yousem SA, et al. Erdheim-Chester Disease: Clinical, Radiologic, and Histopathologic Findings in Five Patients with Interstitial Lung Disease. The American Journal of Surgical Pathology. 1999;23(1).
14. Estrada-Veras JI, O’Brien KJ, Boyd LC, Dave RH, Durham B, Xi L, et al. The clinical spectrum of Erdheim-Chester disease: an observational cohort study. Blood Adv. 2017;1(6):357-66.
15. Haroche J, Cluzel P, Toledano D, Montalescot G, Touitou D, Grenier PA, et al. Cardiac Involvement in Erdheim-Chester Disease. Circulation. 2009;119(25):e597-e8.
16. Haroche J, Amoura Z, Dion E, Wechsler B, Costedoat-Chalumeau N, Cacoub P, et al. Cardiovascular involvement, an overlooked feature of Erdheim-Chester disease: report of 6 new cases and a literature review. Medicine (Baltimore). 2004;83(6):371-92.
17. Morgan NV, Morris MR, Cangul H, Gleeson D, Straatman-Iwanowska A, Davies N, et al. Mutations in SLC29A3, encoding an equilibrative nucleoside transporter ENT3, cause a familial histiocytosis syndrome (Faisalabad histiocytosis) and familial Rosai-Dorfman disease. PLoS Genet. 2010;6(2):e1000833.
18. Goyal G, Tazi A, Go RS, Rech KL, Picarsic JL, Vassallo R, et al. International expert consensus recommendations for the diagnosis and treatment of Langerhans cell histiocytosis in adults. Blood. 2022;139(17):2601-21.
19. Abla O, Jacobsen E, Picarsic J, Krenova Z, Jaffe R, Emile J-F, et al. Consensus recommendations for the diagnosis and clinical management of Rosai-Dorfman-Destombes disease. Blood. 2018;131(26):2877-90.
20. Myra C, Sloper L, Tighe PJ, McIntosh RS, Stevens SE, Gregson RH, et al. Treatment of Erdheim-Chester disease with cladribine: a rational approach. Br J Ophthalmol. 2004;88(6):844-7.
21. Goyal G, Shah MV, Call TG, Litzow MR, Hogan WJ, Go RS. Clinical and Radiologic Responses to Cladribine for the Treatment of Erdheim-Chester Disease. JAMA Oncol. 2017;3(9):1253-6.
22. Arnaud L, Hervier B, Néel A, Hamidou MA, Kahn JE, Wechsler B, et al. CNS involvement and treatment with interferon-α are independent prognostic factors in Erdheim-Chester disease: a multicenter survival analysis of 53 patients. Blood. 2011;117(10):2778-82.