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Cardiac mass as the primary diagnostic clue of Edheim-Chester disease
Azin Alizadehasl1, Maryam Mohseni Salehi1, Zeinab Soltani2
1Cardio-Oncology Research Center, Rajaie Cardiovascular Medical and Research Center Iran University of Medical Sciences Tehran Iran.
Insights
Edheim-Chester disease (ECD), a rare histiocytosis, can present as an intra-cardiac mass. This case highlights the importance of diverse diagnostic methods for identifying rare cardiac tumors and potential genetic links.
Area of Science:
- Histiocytosis
- Cardiovascular Pathology
- Rare Diseases
Background:
- Edheim-Chester disease (ECD) is a rare histiocytosis characterized by lipid-laden histiocyte infiltration.
- It commonly affects bones but frequently involves multiple organs, including the cardiovascular system in over 50% of cases.
Observation:
- A 42-year-old man presented with shortness of breath and bone pain.
- Echocardiography revealed a right atrial mass; CT and MRI confirmed infiltrative mass with encasement of adjacent structures.
- Abdominal CT showed aortic and renal involvement, with kidney biopsy confirming ECD.
Findings:
- The case demonstrates ECD presenting as a significant intra-cardiac mass.
- Diagnostic imaging revealed extensive involvement beyond the heart, including aorta and kidneys.
- A potential novel gene mutation (SLC29A3) associated with ECD was identified.
Implications:
- Emphasizes considering rare conditions like ECD in the differential diagnosis of intra-cardiac masses.
- Highlights the necessity of multi-modal diagnostic approaches for comprehensive disease evaluation.
- Suggests a potential genetic basis for ECD, warranting further research into SLC29A3 mutations.
Key Clinical Message:
We introduced one of the rare causes of intra-cardiac mass, that is, ECD and a new gene mutation (SLC29A3) that is probably related to this disease, and we noted the importance of using several diagnostic methods to rule out other intra-cardiac causes.
Abstract:
Edheim-Chester disease is a rare histiocytosis affecting multiple organs. The infiltration of lipid-laden histiocytes characterizes the disease. Most patients experience bone involvement; over 50% of cases involve the cardiovascular system and other extra-osseous organs. In this case report, we present the case of a 42-year-old man who complained of shortness of breath and bone pain. During echocardiography, a large, homogenous, and fixed mass was found in the right atrium free wall. Computed tomography and cardiac magnetic resonance imaging revealed an infiltrative mass in the RA with atrioventricular groove involvement but coronary sinus encasement, right coronary artery, and superior vena cava encasement. Abdominal CT scans also reported aortic wall involvement and bilateral renal cortical and perirenal involvement. A kidney biopsy confirmed the infiltration of histiocytes and the diagnosis of ECD. The treatment was initiated for him, and his symptoms improved. In this case report, we express the importance of considering the rare causes of cardiac tumors.
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