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Case Reports
. 2025 Apr 30;65(4):57-64.
doi: 10.18087/cardio.2025.4.n2877.

[Catecholaminergic Polymorphic Ventricular Tachycardia Caused by a Homozygous Pathogenic Variant in Calsequestrin 2 Gene]

[Article in Russian]
S M Komissarova  1 , N N Chakova  2 , S S Niyazova  2 , T V Dolmatovich  2 , T A Troyanova-Shchutskaia  1 , N M Rineiska  1
Affiliations
Case Reports

[Catecholaminergic Polymorphic Ventricular Tachycardia Caused by a Homozygous Pathogenic Variant in Calsequestrin 2 Gene]

[Article in Russian]
S M Komissarova et al. Kardiologiia. .

Abstract

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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