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.