PMC8200491_01
The timeline of the patient's clinical history is presented.
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F1
A 46-year old woman with positive clinical history for RDD with cutaneous involvement and arthritis, diagnosed 5 years before, was admitted to our cardiology department after transthoracic echocardiography diagnosis of severe pericardial effusion and right atrial masses (Figure 1).
Cardiac MRI at presentation showed severe pericardial effusion with mild aortic regurgitation (A), right atrial masses with LGE (B), and mass infiltration of the superior cava vein causing stenosis [red arrow-heads in (C)]. After 1 year of follow-up, cardiac MRI showed no pericardial effusion with moderate mitro-aortic regurgitation (D) and mild increase in right atrial masses' size (E), but with no superior cava vein stenosis [red arrow-heads in (F)].
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F2
Overall, taking into consideration the positive medical history for RDD, cardiac MRI findings were consistent with cardiac involvement of RDD [; Figure 2]. At follow-up, cardiac MRI confirmed the absence of pericardial effusion, the mild and slow progression of atrial masses in the presence of moderate-to-severe mitral regurgitation, and mild-to-moderate aortic regurgitation that was not present at the time of surgery and is possibly related to heart valve involvement of cRDD (Figure 2).
Intraoperative view of residual mass freezing (A and Supplementary Video 1) and removal of superior cava vein mass (B and Supplementary Video 2). In (C), gross surgical pathology of the removed mass (7 cm length) is shown, while in (D), infiltrated pericardium is shown after pericardiectomy.
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F3
Surgical management of recurrent pericardial effusion was judged clinically indicated, and 2 months after admission, the patient underwent pericardiectomy and debulking of atrial mass with freezing of remaining atrial neoformation (Figure 3). After successful resection, the portion of mass involving the superior caval vein was sent for histological analysis and resulted consistent with RDD (Figures 3, 4).
The most prominent histological feature is expansion of the cardiac muscular cells that are filled with histiocytes (A). These characteristically have abundant, often vacuolated cytoplasm, rounded nuclei with coarse chromatin, and a single prominent nucleolus. The atypical histiocytes express CD68 (B). In contrast to reactive sinus histiocytes, they are S100 positive (C) but negative for CD1a (D). All these features are consistent with RDD.
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F4
After successful resection, the portion of mass involving the superior caval vein was sent for histological analysis and resulted consistent with RDD (Figures 3, 4).
The identification of emperipolesis, defined as the presence of an intact cell within the cytoplasm of another cell. This finding is reported to be typical of RDD and provides a differential diagnosis with PS100+ Erdheim-Chester disease.
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F5
Emperipolesis was demonstrated as well (Figure 5).