Pheochromocytoma presenting as Takotsubo syndrome in a patient with von Hippel-Lindau disease was successfully treated with adrenalectomy, normalizing left ventricular ejection fraction from 53% to 66%.
Case Report (n=1)
This case highlights that Takotsubo syndrome can be a sentinel manifestation of pheochromocytoma and underlying hereditary tumor syndromes like von Hippel-Lindau disease, underscoring the importance of genetic screening.
Objective: Pheochromocytoma represents a treatable cause of secondary hypertension with potentially life-threatening cardiovascular complications. Takotsubo syndrome, typically attributed to emotional stress, can be precipitated by catecholamine-secreting tumors. We report how a cardiovascular emergency unmasked an underlying hereditary tumor syndrome with profound implications for family screening. Design and method: We describe a 57-year-old woman presenting with acute onset of severe headache, profuse sweating, and palpitations following a meal. Emergency assessment revealed tachycardia at 150 beats per minute, blood pressure asymmetry, and severe hyperglycemia at 4.96 g/L. Electrocardiography showed ST-segment changes with elevated cardiac biomarkers. Comprehensive cardiovascular and endocrine evaluation was performed including echocardiography, coronary angiography, abdominal computed tomography, functional nuclear imaging, plasma and urinary catecholamine measurements, cardiac magnetic resonance imaging, and genetic testing. Results: chocardiography demonstrated characteristic apical ballooning consistent with Takotsubo syndrome. Coronary angiography unexpectedly revealed significant left anterior descending artery stenosis requiring drug-eluting stent placement. Abdominal imaging disclosed a large left adrenal mass. Plasma norepinephrine was elevated 95-fold above normal and normetanephrine 95-fold above reference values, confirming pheochromocytoma. Following alpha-blockade with prazosin and beta-blockade with bisoprolol, successful adrenalectomy was performed. Cardiac magnetic resonance imaging at day 28 confirmed complete functional recovery with left ventricular ejection fraction normalizing from 53% to 66%. Genetic testing identified a pathogenic variant in the von Hippel-Lindau gene. Cascade family screening revealed the same mutation in the patient's 26-year-old son, who subsequently underwent prophylactic adrenalectomy for an asymptomatic pheochromocytoma, while her 25-year-old son tested negative. Conclusions: This case illustrates how acute cardiovascular presentations can serve as sentinel events for hereditary tumor syndromes causing secondary hypertension. Takotsubo syndrome in patients with pheochromocytoma represents a severe catecholamine-induced cardiomyopathy requiring high clinical suspicion. Systematic genetic evaluation following pheochromocytoma diagnosis enables lifesaving pre-emptive interventions in family members. Multidisciplinary collaboration between cardiology, endocrinology, and genetics is essential for comprehensive management of these complex cases.
Cordeanu et al. (Fri,) conducted a case report in Takotsubo syndrome, pheochromocytoma, von Hippel-Lindau disease (n=1). Pheochromocytoma was evaluated on Functional recovery. Pheochromocytoma presenting as Takotsubo syndrome in a patient with von Hippel-Lindau disease was successfully treated with adrenalectomy, normalizing left ventricular ejection fraction from 53% to 66%.