Arrhythmogenic channelopathy syndromes presenting as refractory epilepsy

Background: Children and young adults with potentially lethal cardiac channelopathies often present to medical care with a history of syncope or seizures due to episodic ventricular arrhythmias and associated cerebral hypoperfusion. Methods: Two important types of genetic arrhythmia syndromes - long QT syndrome and catecholaminergic polymorphic ventricular tachycardia - are discussed using relevant case examples. The pathophysiology and distinguishing clinical features of these conditions are reviewed. Results: The patients in each case were ultimately diagnosed with a cardiac channelopathy as the cause for their syncope and refractory seizures. With appropriate medical management, no further events have occurred to date. Conclusions: Cardiac channelopathies can be misdiagnosed as refractory epilepsy when in fact these events represent convulsive syncopes. Knowledge of and suspicion for these arrhythmogenic conditions may expedite diagnosis and improve outcomes.