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We describe an 11-year-old girl with frequent syncope during exercise and emotional stress since the age of 10. There were no abnormalities in the 12-lead electrocardiogram, brain computed tomography, magnetic resonance imaging, or electroencephalogram at rest. She was first diagnosed with orthostatic dysregulation, but Holter electrocardiogram revealed polymorphic premature ventricular contractions (PVCs) during exercise. Treadmill exercise stress test induced a bidirectional ventricular tachycardia, which degenerated into ventricular fibrillation approximately 20 seconds after the first PVC appeared. The patient was diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT) and started with oral administration of beta blockers (propranolol 20mg/day). Because of syncope during exercise her elder sister was also treated as epilepsy, treadmill exercise stress test showed frequent polymorphic PVC. Genetic testing revealed a heterozygous RYR2 mutation in these symptomatic sisters and their asymptomatic father. Beta blocker and exercise restriction prevented her ventricular tachycardias. This article is protected by copyright. All rights reserved.

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