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- W2897792737 abstract "Multifocal pheochromocytoma/paraganglioma presenting at an early age is commonly associated with a hereditary syndrome.A 29-year-old woman was referred for evaluation of multifocal pheochromocytoma/paraganglioma. Interestingly, her family history did not include pheochromocytoma/paraganglioma, and comprehensive genetic testing for the well-documented pheochromocytoma/paraganglioma susceptibility genes was negative. Of note, this patient had a history of a complex cardiac defect resulting in cyanotic congenital heart disease and had never undergone operative repair. Thus she lived in a chronic hypoxic state with a baseline oxygen saturation of about 80%. Laboratory evaluation found marked increases in plasma norepinephrine and normetanephrines with normal epinephrine and metanephrines. Imaging revealed 4 aortocaval masses and a right adrenal mass. After appropriate preoperative preparation she underwent successful resection of each of the neoplasms, with pathologic testing revealing multifocal pheochromocytoma/paraganglioma.This case highlights a growing recognition of the potential development of pheochromocytoma/paraganglioma in patients with cyanotic congenital heart disease. The underlying pathophysiology and phenotypic similarities between pheochromocytoma/paraganglioma in patients with cyanotic congenital heart disease and those with mutations that lead to cellular pseudohypoxia are reviewed." @default.
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- W2897792737 date "2019-01-01" @default.
- W2897792737 modified "2023-09-27" @default.
- W2897792737 title "Multifocal pheochromocytoma-paraganglioma in a 29-year-old woman with cyanotic congenital heart disease" @default.
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- W2897792737 doi "https://doi.org/10.1016/j.surg.2018.08.033" @default.
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