Why the study?
Diagnosis of CPVT can be difficult because resting cardiological examinations are usually normal and exercise stress test-induced ventricular tachycardia is not commonly present.
Highlights the critical role of genetic testing in diagnosing CPVT in young athletes with exertional syncope and normal resting cardiological examinations.
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Case of CPVT after SCA in athlete; leaves open broader role of genetic testing in young athletes with unexplained arrest.
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is one of causes of sudden cardiac death in the young, especially in athletes. Diagnosis of CPVT may be difficult since all cardiological examinations performed at rest are usually normal, and exercise stress test-induced ventricular tachycardia is not commonly present. The identification of a pathogenic mutation in RYR2 or CASQ2 is diagnostic in CPVT. We report on a 20-year-old athlete who survived two sudden cardiac arrests during swimming. Moreover, he suffered repeated syncopal spells on exercise. The diagnosis was made only following genetic testing using a multi-gene panel, and the p.Arg420Gln RYR2 variant was identified. We present diagnostic and therapeutic issues in this young athlete with CPVT.
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Stępień‐Wojno et al. (2020) studied this question.
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