Cardiac involvement in Erdheim-Chester disease: A systematic review of presentation, management and outcome.

e18606 Background: Erdheim-Chester Disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by multisystemic involvement, including cardiac manifestations, which significantly influence morbidity and mortality. Cardiac involvement, a frequent finding in ECD, can affect the pericardium, myocardium, endocardium, and great vessels. This systematic review evaluates the spectrum of cardiac manifestations, therapeutic strategies, and outcomes reported in the literature. Methods: A systematic review was conducted following PRISMA guidelines. Articles published between 2015 and 2025 were retrieved from PubMed and Google Scholar databases. Eligible studies included cases of ECD with documented cardiac involvement. Data extracted included patient demographics, cardiac manifestations, therapeutic interventions, and outcomes. Inclusion Criteria: (1) Confirmed diagnosis of ECD, (2) Documented cardiac involvement, (3) Articles published in English. Exclusion Criteria: Studies with insufficient patient data or duplicate reports. Results: A total of 60 cases of ECD with cardiac involvement were included. The study demonstrated a male predominance (63.3%; 38/60) and a mean age at presentation of 56.8 years (range: 19–77). Pericardial effusion, with or without tamponade, was the most frequently reported manifestation (76.7%; 46/60), followed by periaortic infiltration or “coated aorta” (28.3%; 17/60). The BRAFV600E mutation was the most frequently identified genetic alteration, while other mutations included MAP2K1 (Q56P, K57N, C121S) and NRAS (Q61R); one case reported no detected mutation. Treatment strategies varied depending on the clinical presentation and mutational status, encompassing immunomodulators, biologics, targeted therapies, anti-inflammatory agents, chemotherapeutics, and surgical or interventional procedures. Most cases employed a combination of these modalities. Palliative care was noted in one instance. Outcome data were limited, with 31 of 60 cases reporting survival outcomes. Among these, 25/31 patients survived post-intervention, with 10 cases demonstrating clinical improvement. Conclusions: Cardiac involvement in ECD presents with diverse manifestations, with pericardial effusion and periaortic infiltration being the most prevalent. A male preponderance was observed, and outcomes were inconsistently reported. The variability in treatment modalities complicates the assessment of long-term prognosis. Larger multicentre studies are needed to establish standardized management protocols and improve understanding of long-term outcomes in ECD patients with cardiac involvement.