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Case Reports
. 2025 Jun 24;11(9):913-916.
doi: 10.1016/j.hrcr.2025.06.021. eCollection 2025 Sep.

Homozygous and heterozygous penetrance of a missense CASQ2 variant in a South Asian family

Muhammad Mohsin  1 , Sara Cherny  2 , Gregory Webster  2
Affiliations
Case Reports

Homozygous and heterozygous penetrance of a missense CASQ2 variant in a South Asian family

Muhammad Mohsin et al. HeartRhythm Case Rep. .
No abstract available

Keywords: Arrhythmia; CASQ2; Calsequestrin 2; Catecholaminergic polymorphic ventricular tachycardia; Heterozygous; Sudden cardiac death; Syncope.

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Conflict of interest statement

Dr Webster performed 1-time consulting with Solid Biosciences in 2025, which develops therapies for catecholaminergic polymorphic ventricular tachycardia. None of the therapies are discussed in this article. No other authors have conflicts of interest to disclose.

Figures

Figure 1
Figure 1
Pedigree of family with CPVT (CASQ2 variant). The proband is marked with an arrow. The age of each member was recorded based on age at sample collection or death. CPVT = catecholaminergic polymorphic ventricular tachycardia; SCD = sudden cardiac death.
Figure 2
Figure 2
ECG of proband. A: Baseline ECG strip showing normal sinus rhythm. B: ECG strip during an exercise test, showing polymorphic ventricular ectopy. ECG = electrocardiogram.
Figure 3
Figure 3
Representative tracing from an ambulatory Holter monitor of the younger sibling with a heterozygous genotype for the CASQ2 variant.
See this image and copyright information in PMC

References

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    1. Priori S.G., Napolitano C., Memmi M., et al. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation. 2002;106:69–74. - PubMed
    1. Roston T.M., Yuchi Z., Kannankeril P.J., et al. The clinical and genetic spectrum of catecholaminergic polymorphic ventricular tachycardia: findings from an international multicentre registry. Europace. 2018;20:541–547. - PMC - PubMed
    1. Roston T.M., Haji-Ghassemi O., LaPage M.J., et al. Catecholaminergic polymorphic ventricular tachycardia patients with multiple genetic variants in the PACES CPVT Registry. PLoS One. 2018;13 - PMC - PubMed
    1. Gray B., Bagnall R.D., Lam L., et al. A novel heterozygous mutation in cardiac calsequestrin causes autosomal dominant catecholaminergic polymorphic ventricular tachycardia. Heart Rhythm. 2016;13:1652–1660. - PMC - PubMed

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