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

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 tachy...

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Autores principales: Stępień-Wojno, Małgorzata, Ponińska, Joanna, Biernacka, Elżbieta K., Foss-Nieradko, Bogna, Chwyczko, Tomasz, Syska, Piotr, Płoski, Rafał, Bilińska, Zofia T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7399804/
https://www.ncbi.nlm.nih.gov/pubmed/32605058
http://dx.doi.org/10.3390/diagnostics10070435
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author Stępień-Wojno, Małgorzata
Ponińska, Joanna
Biernacka, Elżbieta K.
Foss-Nieradko, Bogna
Chwyczko, Tomasz
Syska, Piotr
Płoski, Rafał
Bilińska, Zofia T.
author_facet Stępień-Wojno, Małgorzata
Ponińska, Joanna
Biernacka, Elżbieta K.
Foss-Nieradko, Bogna
Chwyczko, Tomasz
Syska, Piotr
Płoski, Rafał
Bilińska, Zofia T.
author_sort Stępień-Wojno, Małgorzata
collection PubMed
description 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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spelling pubmed-73998042020-08-17 A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene Stępień-Wojno, Małgorzata Ponińska, Joanna Biernacka, Elżbieta K. Foss-Nieradko, Bogna Chwyczko, Tomasz Syska, Piotr Płoski, Rafał Bilińska, Zofia T. Diagnostics (Basel) Case Report 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. MDPI 2020-06-27 /pmc/articles/PMC7399804/ /pubmed/32605058 http://dx.doi.org/10.3390/diagnostics10070435 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Stępień-Wojno, Małgorzata
Ponińska, Joanna
Biernacka, Elżbieta K.
Foss-Nieradko, Bogna
Chwyczko, Tomasz
Syska, Piotr
Płoski, Rafał
Bilińska, Zofia T.
A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene
title A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene
title_full A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene
title_fullStr A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene
title_full_unstemmed A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene
title_short A Recurrent Exertional Syncope and Sudden Cardiac Arrest in a Young Athlete with Known Pathogenic p.Arg420Gln Variant in the RYR2 Gene
title_sort recurrent exertional syncope and sudden cardiac arrest in a young athlete with known pathogenic p.arg420gln variant in the ryr2 gene
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7399804/
https://www.ncbi.nlm.nih.gov/pubmed/32605058
http://dx.doi.org/10.3390/diagnostics10070435
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