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Case highlights diagnostic importance of recognizing bladder paragangliomas and genetic testing.
Bladder paragangliomas represent less than 0.05% of bladder tumors, with familial metastatic cases being exceptionally rare. This case outlines a relatively healthy 44-year-old woman presenting with classic symptoms of paraganglioma that initially manifested as cardiac dysrhythmia, new-onset heart failure with reduced ejection fraction, and hypercoagulability. Subsequent questioning and genetic testing identified a family history of paragangliomas and a pathogenic SDHB pR46 mutation. This case highlights the importance of early recognition of signs and symptoms associated with catecholamine-secreting tumors, indications for diagnostic testing, and appropriate genetic testing to prevent devastating complications associated with multisystem failure.
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Hobby et al. (2026) studied this question.
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