ArticleFrontiers in cardiovascular medicine2022
Genetics and clinical phenotype of Erdheim-Chester disease: A case report of constrictive pericarditis and a systematic review of the literature.
Article in Frontiers in cardiovascular medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed.
- Perioperative and Mid-Term Outcomes of Primary Versus Redo Pericardiectomy for Constrictive Pericarditis: A Single-Center Retrospective Cohort Study.Journal of clinical medicine · 2026Article
- The Dangerous Liaison Between Depression and Cardiovascular Disease: A Narrative Review of Epidemiology, Mechanisms, and Clinical Management.Journal of clinical medicine · 2026Review
- Distinguishing Cardiac Sarcomas From Lymphomas: Comparative Insights From Clinical and Echocardiographic Characteristics.Echocardiography (Mount Kisco, N.Y.) · 2026Observational
- Erdheim-Chester Disease with Breast and Axillary Involvement Diagnosed by Ultrasound-Guided Biopsy: A Case Report and Literature Review.Journal of clinical medicine · 2026Article
- The Role of Hybrid PET-MRI in the Diagnosis and Management of Cardiac Sarcoidosis-A Narrative Review.Journal of clinical medicine · 2026Review
- Cardiac Tamponade in Late Pregnancy Caused byJournal of clinical medicine · 2026Article
- Pericardial Manifestations in Systemic Lupus Erythematosus: Clinical Spectrum and Potential Modifying Factors.Journal of cardiovascular development and disease · 2026Review
- Systemic Inflammation Response Index Is Associated with the Presence and Extent of Late Gadolinium Enhancement in Acute Myocarditis.Journal of clinical medicine · 2026Article
- Recurrent Pericarditis in a Middle-Aged Female with MEFV Mutation.Journal of cardiovascular development and disease · 2026Article
- Intravenous leiomyomatosis manifesting as a cardiac mass: a case report.Frontiers in cardiovascular medicine · 2026Article
- Perioperative multidisciplinary rescue of a patient with Erdheim - Chester disease and multi-system involvement: a case report.Frontiers in medicine · 2026Article
- Clinical spectrum of pediatric-onset Erdheim-Chester disease: insights from a single-center case series.Frontiers in pediatrics · 2026Article
- Case Report: When an unknown fever unmasks Erdheim-Chester disease: a case showing the use of multimodality imaging and the successful interferon alpha therapy.F1000Research · 2025Article
- Acute Onset of Constrictive Pericarditis Due to Acute Myelomonocytic Leukemia: A Case and Literature Review.Internal medicine (Tokyo, Japan) · 2024Review
- Erdheim‑Chester disease of multisystem involvement with delayed diagnosis: A case report and literature review.Experimental and therapeutic medicine · 2024Article
- Erdheim-Chester Disease Occult on Radiographs and CT but Visible on MRI and PET.The American journal of case reports · 2024Article
- Erdheim-Chester Disease: Investigating the Correlation between Targeted Treatment Therapy and Disease Outcomes.Cancers · 2024Article
- Case report: Targeted treatment strategies for Erdheim-Chester disease.Frontiers in oncology · 2024Article
- Sex-Related Disparities in Cardiac Masses: Clinical Features and Outcomes.Journal of clinical medicine · 2023Article
- Multimodality imaging of spleen involvement in Erdheim-Chester disease mimicking splenic hemangioma: a unique case report.American journal of nuclear medicine and molecular imaging · 2023Article
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Abstract
Background: Erdheim-Chester disease (ECD) is a rare form of histiocytosis. An increasing number of genetic mutations have been associated with this syndrome, confirming its possible neoplastic origin. Recently, a connection between the BRAF mutational status and a specific phenotype was described; however, no studies have yet evaluated the correlations between other mutations and the clinical features of the disease. Objectives: This study aims to clarify the association between the clinical phenotype and genetic mutations identified in the neoplastic cell lines of ECD. Methods: We describe a case of ECD characterized by pericardial involvement and a KRAS mutation shared with chronic myelomonocytic leukemia. Hence, through a meta-analysis of individual participant data of all genetically and clinically described cases of ECD in the literature, we aimed to elucidate the association between its clinical phenotype and baseline genetic mutations. Results: Of the 760 studies screened, our review included 133 articles published from 2012 to April 2021. We identified 311 ECD patients whose genotype and phenotype were described. We found five main genes (BRAF, KRAS, NRAS, PIK3CA, and MAP2K1) whose mutation was reported at least three times. Mutation of BRAF led to a neurological disease (183 of 273 patients, 67%; Conclusion: This work implies a possible influence of baseline mutation over the natural history of ECD, underscoring the importance of a thorough genetic analysis in all cases with the ultimate goal of identifying a possible targeted therapy for each patient.
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