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Open AccessCase Report

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

1
Unit for Screening Studies in Inherited Cardiovascular Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland
2
Department of Medical Biology, National Institute of Cardiology, 04-628 Warsaw, Poland
3
Department of Congenital Heart Diseases, National Institute of Cardiology, 04-628 Warsaw, Poland
4
Department of Coronary Artery Disease and Cardiac Rehabilitation, National Institute of Cardiology, 04-628 Warsaw, Poland
5
2nd Department of Arrhythmia, National Institute of Cardiology, 04-628 Warsaw, Poland
6
Department of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland
*
Author to whom correspondence should be addressed.
Diagnostics 2020, 10(7), 435; https://doi.org/10.3390/diagnostics10070435
Received: 26 May 2020 / Revised: 17 June 2020 / Accepted: 25 June 2020 / Published: 27 June 2020
(This article belongs to the Special Issue Diagnostic Challenges in Sports Cardiology)
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. View Full-Text
Keywords: sudden cardiac arrest; CPVT; catecholaminergic polymorphic ventricular tachycardia; genetic testing sudden cardiac arrest; CPVT; catecholaminergic polymorphic ventricular tachycardia; genetic testing
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Stępień-Wojno, M.; Ponińska, J.; Biernacka, E.K.; Foss-Nieradko, B.; Chwyczko, T.; Syska, P.; Płoski, R.; Bilińska, Z.T. A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene. Diagnostics 2020, 10, 435.

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