Cardiac mass as the primary diagnostic clue of Edheim-Chester disease.

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.

Cross-cultural validity of the Pulmonary Embolism Quality of Life questionnaire in the quality of life survey after pulmonary embolism: A Persian-speaking cohort.

Background: The Pulmonary Embolism Quality of Life (PEmb-QoL) questionnaire is the first disease-specific scale for assessing the quality of life in patients with a history of pulmonary embolism (PE). Objectives: To assess the cross-cultural validity and reliability of the disease-specific PEmb-QoL questionnaire. Methods: The Persian version was prepared through the forward and backward translation of the English questionnaire. Six months after the diagnosis of acute PE, consecutive Persian-speaking patients were asked to complete the PEmb-QoL, the generic 36-item Short Form (SF-36) questionnaires and undertake a 6-minute walk test (6MWT). Acceptability was assessed via item missing rate, reproducibility by the test-retest method, and internal consistency reliability by Cronbach's α and McDonald's ω coefficients. Convergence validity was assessed using the Spearman rank correlation between scores of PEmb-QoL, SF-36, and 6MWT. The questionnaire structure was evaluated through exploratory factor analysis. Results: Ninety-six patients with a confirmed diagnosis of PE completed the questionnaires. The Persian version of PEmb-QoL had good internal consistency (α = 0.95, 3-factor ω = 0.96), inter-item correlation (0.3-0.62), item-total correlation (0.38-0.71), reproducibility (test-retest ICC with 25 participants = 0.92-0.99), and good discriminant validity. Convergence validity was confirmed by the moderate-to-high correlations between PEmb-QoL and SF-36 scores, and a good correlation between the "limitation in daily activities" dimension of the PEmb-QoL questionnaire and 6MWT results. Exploratory factor analysis suggested a 3-component structure with functional (items 1h, 4b-5d, 6, 8, 9i, and 9j), symptoms (1b-h, 7, and 8), and emotional (5a, 6, and 9a-h) components. Conclusion: The Persian version of the PEmb-QoL questionnaire is valid and reliable for measuring the disease-specific quality of life in patients with PE.