First biallelic CASQ2 variant in a Korean child with catecholaminergic polymorphic ventricular tachycardia

Q: What is the clinical evidence from this study?

Study design: Case Report. Population: Catecholaminergic polymorphic ventricular tachycardia (CPVT) (n=1). Intervention: Melatonin and Implantable cardioverter-defibrillator (ICD).

Sang Hun Jung; Shin Hyeung Kwak; Gwang Jun Choi; Ja Kyoung Yoon; Jin Young Song; I Seok Kang; June Huh

doi:10.3345/cep.2026.01158

September 1, 2026Korean Journal of PediatricsOpen Access

First biallelic CASQ2 variant in a Korean child with catecholaminergic polymorphic ventricular tachycardia

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Key result

In a Korean child with a novel biallelic CASQ2 variant causing CPVT, sleep disturbances exacerbated malignant arrhythmias, which were stabilized using melatonin and an ICD for pacing and refractory syncope.

Key Points

To describe the clinical course, genetic etiology, and multimodal therapeutic strategy in the first reported Korean pediatric case of CASQ2-mediated catecholaminergic polymorphic ventricular tachycardia.
Evaluated an 8-year-old girl presenting with exertional syncope using electrocardiography, Holter monitoring, treadmill exercise testing, and genetic analysis of CASQ2.
Managed refractory ventricular tachyarrhythmias and drug-induced bradycardia sequentially with beta-blockers, left cardiac sympathetic denervation at age 9, melatonin at age 11, and dual-chamber ICD implantation at age 14.
Genetic sequencing revealed a novel biallelic nonsense CASQ2 variant (c.220G>T, p.(Glu74)), with treadmill testing inducing nonsustained bidirectional ventricular tachycardia at stage 3.
Left cardiac sympathetic denervation elevated the premature ventricular contraction heart rate threshold from 108 to 120 bpm and suppressed bidirectional premature contractions seen at 130 bpm.
Dual-chamber ICD implantation with pacing at 60 bpm in AAIR to DDDR mode resolved symptomatic bradycardia, facilitating compliance with nadolol 40 mg daily without recurrent syncope.

Study Design

Type

Case Report (n=1)

Multicenter

No

PICO

P

Population

An 8-year-old Korean girl with catecholaminergic polymorphic ventricular tachycardia caused by a novel biallelic CASQ2 variant, followed through age 14.

I

Intervention / Comparator

Melatonin and Implantable cardioverter-defibrillator (ICD) (Melatonin 2 mg, Nadolol 40 mg)

Limitations

Natural disease fluctuations or unmeasured lifestyle adjustments cannot be entirely excluded as causes for the reduction in syncope.

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Implication

Case report reveals a novel biallelic CASQ2 variant in a pediatric CPVT patient, indicating that pacing-supported beta-blocker therapy overcomes severe bradycardia.

Abstract

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Cite This Study

Jung et al. (2026) conducted a case report in Catecholaminergic polymorphic ventricular tachycardia (CPVT) (n=1). Melatonin and Implantable cardioverter-defibrillator (ICD) was evaluated. In a Korean child with a novel biallelic CASQ2 variant causing CPVT, sleep disturbances exacerbated malignant arrhythmias, which were stabilized using melatonin and an ICD for pacing and refractory syncope.

synapsesocial.com/papers/6a969b48535111e2d4ce8d08 https://doi.org/10.3345/cep.2026.01158

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First biallelic CASQ2 variant in a Korean child with catecholaminergic polymorphic ventricular tachycardia

Key Points

Study Design

PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

First biallelic CASQ2 variant in a Korean child with catecholaminergic polymorphic ventricular tachycardia

Key Points

Study Design

PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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