Work

A Discovery of Potentially Hereditary Cardiac Angiosarcoma

Year: 2025

Type: article

Abstract: BACKGROUND: Cardiac angiosarcomas are rare, often rapidly progressing to malignant tumors with poor prognosis. CASE SUMMARY: We present the case of a 31-year-old man with shortness of breath and cough. Diagnostic work-up revealed an infiltrative right atrial mass with obstruction of flow, and biopsy confirmed primary cardiac angiosarcoma. Family history was notable for cardiac angiosarcoma in his father, diagnosed at age 32. After multidisciplinary tumor board discussion, resection was performed prior to initiation of chemotherapy. The postoperative course was complicated by recurrent pericardial and pleural effusions. After genetic analysis, a POT-1 gene variant of uncertain significance was discovered. DISCUSSION: This case underscores the lack of current screening guidelines for those who are potentially at risk. TAKE-HOME MESSAGES: Early detection of angiosarcomas is vital given rapid tumor progression. Further classification of deleterious mutations for POT1 tumor predisposition can potentially open more patients to extensive screening before the development of malignancy.

Source: JACC Case Reports

DOI: 10.1016/j.jaccas.2025.106124