SUN-913 A MEN-2a Syndrome Index Case Presenting with Adrenergic Crisis and Cardiogenic Shock Due to Bilateral Pheochromocytoma
Authors: Salazar Daniela , Ferreira Maria João Silva , Costa Cláudia Fernandes , Belo Sandra , Esteves César A , Freitas Paula A , Pimenta Tiago , Carvalho Davide M 
Published: May 2020

Background: MEN-2A syndrome is commonly asymptomatic at diagnosis. Withal, pheochromocytoma presenting as cardiogenic shock is a recognized but exceptional occurrence. Case: A healthy 26-year-old female presented to the emergency department with precordial discomfort, headache and shortness of breath, starting that morning. She had a gum corrective surgery in the day before, was medicated with ibuprofen, pantoprazole and amoxicillin/clavulanic acid, and had previous history of migraine and smoking. Her blood pressure was high, and she had pulmonary edema and respiratory failure. ECG: sinus tachycardia, left axis deviation, and negative T wave in aVL. Analytically: leukocytosis, elevated myocardial necrosis markers (troponin I 1.29 ng/mL, normal &lt; 0 ng/mL), and hyperlactacidemia. Transthoracic echocardiogram: severe left ventricular dysfunction, akinesia of the basal mid segments of all walls; image of thickening immediately above the aortic valvular plane. CT angiography: bilateral adrenal masses (9.2x9.2x10.8 cm on the right; 2.3x2.8x3.3 cm on the left), suggestive of pheochromocytoma. Cardiogenic shock led to patient transfer to our hospital for ECMO, in which she was maintained for 14 days. Pheochromocytoma was confirmed (normetanephrine 15689 µg/24h [normal &lt; 390 µg/24h], metanephrine 15000 [normal &lt; 320 µg/24h]) and adrenergic blockade initiated. Hospitalization complications and surgical risk delayed bilateral adrenalectomy to 1 month after admission. She initiated glucocorticoid and mineralocorticoid replacement, was transferred to the ward stable, and started a rehabilitation program before hospital discharge. Phosphocalcic metabolism was normal (PTH 38.7 pg/mL, normal 10–65 pg/mL). High calcitonin levels (87 pg/mL, normal &lt;5 pg/mL) lead to the diagnosis of medullary thyroid carcinoma, followed by total thyroidectomy. MIBG showed “No foci of radiopharmaceutical overaptation related to norepinephrine transporter overexpression lesions.”, and genetic study revealed heterozygous variant c.1900T&gt;C [p. (Cys634Arg)] in exon 11 of the RET gene, confirming suspicion of MEN-2A syndrome. As there was no family history of endocrine neoplasias, she was referred to genetic counselling for evaluation of family members. She maintains follow-up, currently treated with hydrocortisone 7.5 + 5 + 2.5 mg od, fludrocortisone 0.1 mg od, and levothyroxine 137 mcg, with improvement of functional capacity and general state (weight gain of 13 kg), recovery of left ventricular function, normal urinary metanephrines, and calcitonin &lt; 2.0 pg/mL. Conclusions: To our knowledge, MEN-2A syndrome presenting with cardiogenic shock due to pheochromocytoma was not yet described. Knowledge of unusual presentations of rare syndromes is important to arise suspicion and improve differential diagnosis in life-threatening conditions as cardiogenic shock.