分子遺伝医学

Unusual and Challenging Presentation of Hereditary Pheochromocytoma: Physicians Should Not Be Fooled - A Case Report

Abstract

Parasiliti-Caprino M, Matta M, Lopez C, Barbero U, Maletta F, Frea S, Giraudo G, Benso A, Pasini B, Ghigo E and Maccario M

We present the case of a 45-year-old woman admitted to our hospital with acute heart failure and cardiogenic shock requiring stabilization with an intra-aortic balloon pump, inotropes and vasopressors. Nevertheless, the patient developed a multi organ failure. Firstly, diagnosed as an acute myocarditis, bilateral pheochromocytoma was discovered with MRI scan and confirmed with urine and plasma metanephrines. Bilateral adrenalectomy was performed. The genetic testing revealed a mutation in the Neurofibromatosis type 1 gene. Given the life-threatening complications and the good prognosis after radical surgery, the diagnosis of pheochromocytoma should be quickly considered in patients presenting with unexplained cardiovascular compromise.