Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 Presenting as Seizure in a Child

Q: What is the clinical evidence from this study?

Study design: Case Report. Population: Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 (n=1). Intervention: Propranolol and flecainide. Primary outcome: Arrhythmic burden on follow-up exercise testing and clinical symptoms.

Feisal Rahimpour; Elham Saadatpour Moghaddam; Navid Abbasiyan Fallahi

doi:10.1016/j.jaccas.2026.109233

July 1, 2026JACC Case ReportsOpen Access

Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 Presenting as Seizure in a Child

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Why the study?

In children, catecholaminergic polymorphic ventricular tachycardia is often misdiagnosed as epilepsy due to convulsive syncope triggered by exercise.

Does combination therapy with propranolol and flecainide prevent arrhythmias in a child with CPVT type 2?

Key Points

To describe the diagnostic evaluation and successful medical management of catecholaminergic polymorphic ventricular tachycardia type 2 presenting as exercise-induced convulsive episodes in a pediatric patient.
Clinical, neurological, and cardiac evaluation of a 6-year-old boy presenting with recurrent exertional seizure-like episodes, including EEG, brain MRI, resting ECG, echocardiography, and 24-hour Holter monitoring.
Provocative evaluation using a Modified Bruce Protocol exercise stress test, followed by whole exome sequencing.
Initiation of oral dual therapy with propranolol (1 mg/kg/d) and flecainide (3 mg/kg/d), with clinical and exercise stress test follow-up at 6 months.
Baseline neurological and resting cardiac investigations were normal, but exercise testing induced isolated ventricular ectopy at heart rates of 100 to 130 beats/min that progressed to sustained bidirectional ventricular tachycardia.
Whole exome sequencing identified a homozygous pathogenic CASQ2 variant (c.840C>T; p.Gln280), confirming CPVT type 2.
At 6-month follow-up on combination propranolol and flecainide, the patient remained asymptomatic with complete suppression of inducible ventricular tachycardia on repeat exercise testing, safely avoiding ICD placement.

Study Design

Type

Case Report (n=1)

Multicenter

No

Structured PICO

Does combination therapy with propranolol and flecainide prevent arrhythmias in a child with CPVT type 2?

P

Population

A 6-year-old boy with exercise-induced seizures diagnosed with CPVT type 2 and successfully managed with propranolol and flecainide over 6 months.

I

Intervention

Combination therapy with propranolol (1 mg/kg/d) and flecainide (3 mg/kg/d)

O

Outcome

Symptom recurrence and arrhythmic burden on repeat exercise testing at 6-month follow-up

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Implication

In pediatric CPVT type 2, dual therapy with propranolol and flecainide effectively controls life-threatening arrhythmias, offering a viable alternative to early ICD intervention.

Abstract

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia is a rare inherited arrhythmogenic disorder. In children, it is often misdiagnosed as epilepsy due to convulsive syncope triggered by exercise. CASE SUMMARY: A 6-year-old boy presented with exercise-induced seizure-like episodes despite normal neuroimaging. Resting electrocardiogram and Holter were unremarkable, but exercise stress testing revealed bidirectional ventricular tachycardia. Genetic testing confirmed a homozygous CASQ2 mutation, consistent with catecholaminergic polymorphic ventricular tachycardia type 2. The patient was successfully managed with propranolol and flecainide, avoiding implantable cardioverter-defibrillator placement. DISCUSSION: Catecholaminergic polymorphic ventricular tachycardia type 2 often presents earlier and more severely than type 1. This case highlights the importance of exercise testing in pediatric syncope with normal baseline findings and emphasizes genotype-phenotype correlation when managing incidental findings. TAKE-HOME MESSAGES: Catecholaminergic polymorphic ventricular tachycardia type 2 should be considered in any child with exertional seizures despite normal baseline evaluations. Combination therapy provides an effective alternative to early implantable cardioverter-defibrillator implantation.

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Cite This Study

Rahimpour et al. (2026) conducted a case report in Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 (n=1). Propranolol and flecainide was evaluated on Arrhythmic burden on follow-up exercise testing and clinical symptoms.

synapsesocial.com/papers/6a5351f9985393734a594d82 https://doi.org/10.1016/j.jaccas.2026.109233

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Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 Presenting as Seizure in a Child

Figures

Key Points

Study Design

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Catecholaminergic Polymorphic Ventricular Tachycardia Type 2 Presenting as Seizure in a Child

Figures

Key Points

Study Design

Structured PICO

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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