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Susan M. Wcislak William S. King Benjamin R. Waller Natasha Goins Paxton V. Dickson 《Surgery》2019,165(1):228-231
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44.
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Sabin J. Bozso Jeevan Nagendran Michael W.A. Chu Bob Kiaii Ismail El-Hamamsy Maral Ouzounian Jörg Kempfert Christoph Starck Michael C. Moon 《The Annals of thoracic surgery》2021,111(2):463-470
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Wadi Mawad Rajiv R. Chaturvedi Greg Ryan Edgar Jaeggi 《The Canadian journal of cardiology》2018,34(3):342.e9-342.e11
We report the first ultrasonographically guided percutaneous balloon atrial septoplasty (BAS), to our knowledge, in a fetus with transposition of the great arteries and an intact ventricular and atrial septum (37 + 2 weeks). After vaginal delivery at 38 weeks, the infant had an elective septostomy (day 1) and an arterial switch procedure (day 7), with an uneventful postoperative course. For centres with experience in fetal cardiac interventions, fetal BAS is a superior management option compared with the alternatives for this high-risk physiology. 相似文献
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