A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the <i>RYR2</i> Gene

• Main Authors: Małgorzata Stępień-Wojno, Joanna Ponińska, Elżbieta K. Biernacka, Bogna Foss-Nieradko, Tomasz Chwyczko, Piotr Syska, Rafał Płoski, Zofia T. Bilińska
• Format: Article
• Language: English
• Published: MDPI AG 2020-06-01
• Series: Diagnostics
• Subjects: sudden cardiac arrest; CPVT; catecholaminergic polymorphic ventricular tachycardia; genetic testing
• Online Access: https://www.mdpi.com/2075-4418/10/7/435
• ISSN: 2075-4418

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 <i>RYR2</i> or <i>CASQ2</i> 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 <i>RYR2</i> variant was identified. We present diagnostic and therapeutic issues in this young athlete with CPVT.