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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...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cureus
2022
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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. |
format | Online Article Text |
id | pubmed-9452063 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
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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