A Discovery of Potentially Hereditary Cardiac Angiosarcoma

Figures

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  Visual Summary. Timeline of Case Presentation OR = operating room; TEE = transesophageal echocardiography.

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  Figure 1. CT Angiography on Admission Four-chamber CT image demonstrating a large infiltrative mass (yellow arrow) centered in the right atrium with extension across the tricuspid valve into the right ventricle and associated small circumferential pericardial effusion (red arrow). CT = computed tomography.

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  Figure 2. Cardiac Magnetic Resonance Imaging (A) Large infiltrative mass centered within the right atrium demonstrating peripheral enhancement on early 4-chamber postcontrast image with pericardiac thickening and enhancement suspicious for pericardial involvement. (B) Four-chamber SSFP image demonstrating intermediate signal within the mass and infiltrative appearance. (C) Short-axis SSFP image demonstrating the lobulated appearance with extension into the right ventricle. SSFP = steady-state free procession.

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  Figure 3. Low-Power Pathology Slide Low-power view noting tumor to the left of the benign fibroadipose pericardial tissue.

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  Figure 4. High-Power Pathology Slide High-power view displaying several mitotic figures (arrows).

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  Figure 5. CD31 Staining on Pathology CD31-positive staining indicative of structures of vascular origin consistent with the diagnosis of angiosarcoma.

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  Figure 6. CD34 Staining on Pathology Patchy CD34-positive staining indicative of structures of vascular origin consistent with the diagnosis of angiosarcoma.

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  Figure 7. Pancytokeratin AE1/AE3 Staining on Pathology Negative pancytokeratin AE1/AE3 staining. This staining is positive in carcinomas but less commonly in angiosarcomas, consistent with the diagnosis of angiosarcoma.

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  Figure 8. Family Pedigree Chart Pedigree chart of the patient's family history. Image created in BioRender (Minik T.; 2025; https://BioRender.com/80rd3gx).

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  Figure 9. Intraoperative TEE Imaging TEE images of obstructed flow through the tricuspid valve secondary to the right atrial mass. TEE = transesophageal echocardiography.

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  Figure 10. Clinical History and Findings Indicating When POT1-TPD Should Be Suspected POT1-TPD should be suspected in patients diagnosed with multiple cutaneous melanomas, those diagnosed with 1 of the 4 POT1-TPD core malignancies (cutaneous melanoma, sarcoma, glioma, chronic lymphocytic leukemia) who also have a first- or second-degree relative with POT1-TPD core malignancy, or carriers of the POT1-TPD mutation. In our patient, the criteria for preventative screening were not met until he was diagnosed with a POT1-TPD core malignancy. In patients with cardiac angiosarcomas, further research should explore the broadening of the indications for genetic testing to include patients with this rare tumor type. Additionally, the establishment of clinical diagnostic criteria for POT1-TPD in an individual and/or family is needed to allow initiation of preventative screening in unaffected, at-risk individuals, with the goal of early detection and treatment of malignancies. POT1-TPD = POT1-tumor predisposition. Image created in BioRender (Minik T.; 2025; https://BioRender.com/50xk0bf).