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A Rare Case of RYR2 Mutation Causing Sudden Cardiac Arrest Due to Catecholaminergic Polymorphic Ventricular Tachycardia
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a complex disorder that can induce lethal ventricular arrhythmias, secondary to activation of the sympathetic nervous system. This disease is often diagnosed in childhood but can also manifest in adulthood (the early 40s). Gene mutation...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7980721/ https://www.ncbi.nlm.nih.gov/pubmed/33763313 http://dx.doi.org/10.7759/cureus.13417 |
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author | Vemireddy, Lalitha Padmanabha Aqeel, Ammar Ying, Grace W Majlesi, Delaram Woo, Vincent |
author_facet | Vemireddy, Lalitha Padmanabha Aqeel, Ammar Ying, Grace W Majlesi, Delaram Woo, Vincent |
author_sort | Vemireddy, Lalitha Padmanabha |
collection | PubMed |
description | Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a complex disorder that can induce lethal ventricular arrhythmias, secondary to activation of the sympathetic nervous system. This disease is often diagnosed in childhood but can also manifest in adulthood (the early 40s). Gene mutations such as CALM1, RYR2 (ryanodine receptor-2), CASQ2, and TRDN have been identified as common causes of CPVT. Those affected can present with episodes of syncope, sudden cardiac arrest, or sudden cardiac death due to either fast polymorphic ventricular tachycardia (VT) or bidirectional VT. Diagnosing and managing CPVT can often be challenging as patients are often asymptomatic and may present after a sudden cardiac arrest. Exercise stress testing and genetic testing play a pivotal role in the workup of CPVT. Avoidance of strenuous activities and pharmacological therapy with beta-blockers are the mainstays of treatment. Here, we report a case of CPVT in a patient with RYR2 gene mutation, causing sudden cardiac arrest. |
format | Online Article Text |
id | pubmed-7980721 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
spelling | pubmed-79807212021-03-23 A Rare Case of RYR2 Mutation Causing Sudden Cardiac Arrest Due to Catecholaminergic Polymorphic Ventricular Tachycardia Vemireddy, Lalitha Padmanabha Aqeel, Ammar Ying, Grace W Majlesi, Delaram Woo, Vincent Cureus Cardiology Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a complex disorder that can induce lethal ventricular arrhythmias, secondary to activation of the sympathetic nervous system. This disease is often diagnosed in childhood but can also manifest in adulthood (the early 40s). Gene mutations such as CALM1, RYR2 (ryanodine receptor-2), CASQ2, and TRDN have been identified as common causes of CPVT. Those affected can present with episodes of syncope, sudden cardiac arrest, or sudden cardiac death due to either fast polymorphic ventricular tachycardia (VT) or bidirectional VT. Diagnosing and managing CPVT can often be challenging as patients are often asymptomatic and may present after a sudden cardiac arrest. Exercise stress testing and genetic testing play a pivotal role in the workup of CPVT. Avoidance of strenuous activities and pharmacological therapy with beta-blockers are the mainstays of treatment. Here, we report a case of CPVT in a patient with RYR2 gene mutation, causing sudden cardiac arrest. Cureus 2021-02-18 /pmc/articles/PMC7980721/ /pubmed/33763313 http://dx.doi.org/10.7759/cureus.13417 Text en Copyright © 2021, Vemireddy et al. http://creativecommons.org/licenses/by/3.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
spellingShingle | Cardiology Vemireddy, Lalitha Padmanabha Aqeel, Ammar Ying, Grace W Majlesi, Delaram Woo, Vincent A Rare Case of RYR2 Mutation Causing Sudden Cardiac Arrest Due to Catecholaminergic Polymorphic Ventricular Tachycardia |
title | A Rare Case of RYR2 Mutation Causing Sudden Cardiac Arrest Due to Catecholaminergic Polymorphic Ventricular Tachycardia |
title_full | A Rare Case of RYR2 Mutation Causing Sudden Cardiac Arrest Due to Catecholaminergic Polymorphic Ventricular Tachycardia |
title_fullStr | A Rare Case of RYR2 Mutation Causing Sudden Cardiac Arrest Due to Catecholaminergic Polymorphic Ventricular Tachycardia |
title_full_unstemmed | A Rare Case of RYR2 Mutation Causing Sudden Cardiac Arrest Due to Catecholaminergic Polymorphic Ventricular Tachycardia |
title_short | A Rare Case of RYR2 Mutation Causing Sudden Cardiac Arrest Due to Catecholaminergic Polymorphic Ventricular Tachycardia |
title_sort | rare case of ryr2 mutation causing sudden cardiac arrest due to catecholaminergic polymorphic ventricular tachycardia |
topic | Cardiology |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7980721/ https://www.ncbi.nlm.nih.gov/pubmed/33763313 http://dx.doi.org/10.7759/cureus.13417 |
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