Key result
A 22-year-old male presenting with sporadic seizures was diagnosed with catecholaminergic polymorphic ventricular tachycardia linked to a RYR2 variant and treated with a subcutaneous ICD and nadolol.
Case Report (n=1)
Catecholaminergic polymorphic ventricular tachycardia (CPVT) can present as recurrent seizures due to exertion-induced syncope and should be considered in the differential diagnosis of young patients with unexplained seizures.
Seizures may mask CPVT; this single case leaves open systematic cardiac evaluation in refractory epilepsy.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited, highly malignant cardiac channelopathy that causes autopsy-negative sudden deaths and sudden infant deaths. The symptoms of CPVT range from asymptomatic to syncopal. We present a patient who has had sporadic seizures for the last four years and was diagnosed with focal seizures. Genetic testing revealed heterozygosity for a variant of uncertain significance in the cardiac ryanodine receptor (RYR2). Pathogenic variants are known to be associated with CPVT. A subcutaneous implantable cardioverter-defibrillator (ICD) was placed and is being closely followed in the cardiology clinic.
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Devkota et al. (2022) conducted a case report in Catecholaminergic Polymorphic Ventricular Tachycardia (n=1). Subcutaneous implantable cardioverter-defibrillator (ICD) and nadolol was evaluated. A 22-year-old male presenting with sporadic seizures was diagnosed with catecholaminergic polymorphic ventricular tachycardia linked to a RYR2 variant and treated with a subcutaneous ICD and nadolol.
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