A novel homozygous frameshift mutation in the CASQ2 gene causes a severe, early-onset phenotype of CPVT that is refractory to medical therapy and requires ICD implantation.
Homozygous CASQ2 variant linked to early CPVT without structural disease; extends spectrum but leaves management implications open.
The article presents a clinical case of a 19-year-old patient with catecholaminergic polymorphic ventricular tachycardia caused by the pathogenic homozygous variant p.Ile193Asnfs*17 (rs397516643) in the CASQ2 gene, the early manifestations of which were recurrent syncope during emotional stress, supraventricular and polymorphic ventricular arrhythmias in the absence of structural changes in the heart. The article showed the evolution of heart rhythm disorders during the observation period. The authors discussed the issues of risk stratification for sudden cardiac death and the strategy for its prevention in this pathology.
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Комиссарова et al. (2025) studied this question.
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