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Background
Multifocal pheochromocytoma/paraganglioma presenting at an early age is commonly associated with a hereditary syndrome.Case Report
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.Discussion
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. 相似文献Areas covered: Cardiogenic shock is associated with a high mortality rate. Less well characterized are patients who are not in cardiogenic shock but will die from pump failure as a result of a STEMI. There is a long history of using hemodynamics to risk stratify patients with acute MI with the Killip class being shown to provide prognostic information in the prereperfusion, thrombolytic and PPCI eras. Recent studies have identified low systolic blood pressure (SBP), elevated heart rate, elevated left ventricular end diastolic pressure (LVEDP), and low SBP/LVEDP ratio as hemodynamic parameters associated with early mortality in patients undergoing PPCI. Although infrequently used, prognostic information can be obtained from right heart catheterization in the setting of STEMI with the best-studied parameters being cardiac power, pulmonary capillary wedge pressure (PCWP), cardiac output, right atrial pressure/PCWP ratio, and pulmonary artery pulsatility index.
Expert commentary: Hemodynamic parameters measured at the time of PPCI provide important prognostic information. Whether hemodynamics can be used to determine which patients benefit from early initiation of mechanical support remains to be determined. 相似文献