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Catecholaminergic Polymorphic Ventricular Tachycardia Presented As Generalized Tonic-Clonic Seizure: A Case Report

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited, highly malignant cardiac channelopathy that causes autopsy-negative sudden deaths and sudden infant deaths. The symptoms of CPVT range from asymptomatic to syncopal. We present a patient who has had sporadic seizures for t...

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Autores principales: Acharya, Shraddha, Devkota, Pratichhya, Shrestha, Ramesh, Bajracharya, Ashik K, Jesmajian, Stephen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9452063/
https://www.ncbi.nlm.nih.gov/pubmed/36106241
http://dx.doi.org/10.7759/cureus.27806
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author Acharya, Shraddha
Devkota, Pratichhya
Shrestha, Ramesh
Bajracharya, Ashik K
Jesmajian, Stephen
author_facet Acharya, Shraddha
Devkota, Pratichhya
Shrestha, Ramesh
Bajracharya, Ashik K
Jesmajian, Stephen
author_sort Acharya, Shraddha
collection PubMed
description Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited, highly malignant cardiac channelopathy that causes autopsy-negative sudden deaths and sudden infant deaths. The symptoms of CPVT range from asymptomatic to syncopal. We present a patient who has had sporadic seizures for the last four years and was diagnosed with focal seizures. Genetic testing revealed heterozygosity for a variant of uncertain significance in the cardiac ryanodine receptor (RYR2). Pathogenic variants are known to be associated with CPVT. A subcutaneous implantable cardioverter-defibrillator (ICD) was placed and is being closely followed in the cardiology clinic.
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spelling pubmed-94520632022-09-13 Catecholaminergic Polymorphic Ventricular Tachycardia Presented As Generalized Tonic-Clonic Seizure: A Case Report Acharya, Shraddha Devkota, Pratichhya Shrestha, Ramesh Bajracharya, Ashik K Jesmajian, Stephen Cureus Cardiology Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited, highly malignant cardiac channelopathy that causes autopsy-negative sudden deaths and sudden infant deaths. The symptoms of CPVT range from asymptomatic to syncopal. We present a patient who has had sporadic seizures for the last four years and was diagnosed with focal seizures. Genetic testing revealed heterozygosity for a variant of uncertain significance in the cardiac ryanodine receptor (RYR2). Pathogenic variants are known to be associated with CPVT. A subcutaneous implantable cardioverter-defibrillator (ICD) was placed and is being closely followed in the cardiology clinic. Cureus 2022-08-09 /pmc/articles/PMC9452063/ /pubmed/36106241 http://dx.doi.org/10.7759/cureus.27806 Text en Copyright © 2022, Acharya et al. https://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
Acharya, Shraddha
Devkota, Pratichhya
Shrestha, Ramesh
Bajracharya, Ashik K
Jesmajian, Stephen
Catecholaminergic Polymorphic Ventricular Tachycardia Presented As Generalized Tonic-Clonic Seizure: A Case Report
title Catecholaminergic Polymorphic Ventricular Tachycardia Presented As Generalized Tonic-Clonic Seizure: A Case Report
title_full Catecholaminergic Polymorphic Ventricular Tachycardia Presented As Generalized Tonic-Clonic Seizure: A Case Report
title_fullStr Catecholaminergic Polymorphic Ventricular Tachycardia Presented As Generalized Tonic-Clonic Seizure: A Case Report
title_full_unstemmed Catecholaminergic Polymorphic Ventricular Tachycardia Presented As Generalized Tonic-Clonic Seizure: A Case Report
title_short Catecholaminergic Polymorphic Ventricular Tachycardia Presented As Generalized Tonic-Clonic Seizure: A Case Report
title_sort catecholaminergic polymorphic ventricular tachycardia presented as generalized tonic-clonic seizure: a case report
topic Cardiology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9452063/
https://www.ncbi.nlm.nih.gov/pubmed/36106241
http://dx.doi.org/10.7759/cureus.27806
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