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Sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of Brugada and Long QT3 syndromes
Inherited arrhythmia syndromes are a known, albeit rare, cause of sudden cardiac arrest which may present with characteristic electrocardiogram changes in patients with structurally normal heart. There are a variety of distinct arrhythmogenic syndromes that arise from mutations in voltage gated sodi...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Elsevier
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031864/ https://www.ncbi.nlm.nih.gov/pubmed/27676163 http://dx.doi.org/10.1016/j.ipej.2016.07.001 |
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author | Lakshmanadoss, U. Mertens, A. Gallagher, M. Kutinsky, I. Williamson, B. |
author_facet | Lakshmanadoss, U. Mertens, A. Gallagher, M. Kutinsky, I. Williamson, B. |
author_sort | Lakshmanadoss, U. |
collection | PubMed |
description | Inherited arrhythmia syndromes are a known, albeit rare, cause of sudden cardiac arrest which may present with characteristic electrocardiogram changes in patients with structurally normal heart. There are a variety of distinct arrhythmogenic syndromes that arise from mutations in voltage gated sodium channels, resulting in either gain or loss of function. We describe a patient with a primary inherited arrhythmia syndrome which presented as sudden cardiac arrest. Further workup revealed that her arrest was due to a combination of Brugada syndrome and Long QT3 syndrome secondary to a deleterious mutation of voltage-gated, sodium channel, type V alpha subunit (SCN5A Thr1709Met). |
format | Online Article Text |
id | pubmed-5031864 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2016 |
publisher | Elsevier |
record_format | MEDLINE/PubMed |
spelling | pubmed-50318642016-09-29 Sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of Brugada and Long QT3 syndromes Lakshmanadoss, U. Mertens, A. Gallagher, M. Kutinsky, I. Williamson, B. Indian Pacing Electrophysiol J Case Report Inherited arrhythmia syndromes are a known, albeit rare, cause of sudden cardiac arrest which may present with characteristic electrocardiogram changes in patients with structurally normal heart. There are a variety of distinct arrhythmogenic syndromes that arise from mutations in voltage gated sodium channels, resulting in either gain or loss of function. We describe a patient with a primary inherited arrhythmia syndrome which presented as sudden cardiac arrest. Further workup revealed that her arrest was due to a combination of Brugada syndrome and Long QT3 syndrome secondary to a deleterious mutation of voltage-gated, sodium channel, type V alpha subunit (SCN5A Thr1709Met). Elsevier 2016-07-15 /pmc/articles/PMC5031864/ /pubmed/27676163 http://dx.doi.org/10.1016/j.ipej.2016.07.001 Text en Copyright © 2016, Indian Heart Rhythm Society. Production and hosting by Elsevier B.V. http://creativecommons.org/licenses/by-nc-nd/4.0/ This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/). |
spellingShingle | Case Report Lakshmanadoss, U. Mertens, A. Gallagher, M. Kutinsky, I. Williamson, B. Sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of Brugada and Long QT3 syndromes |
title | Sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of Brugada and Long QT3 syndromes |
title_full | Sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of Brugada and Long QT3 syndromes |
title_fullStr | Sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of Brugada and Long QT3 syndromes |
title_full_unstemmed | Sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of Brugada and Long QT3 syndromes |
title_short | Sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of Brugada and Long QT3 syndromes |
title_sort | sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of brugada and long qt3 syndromes |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031864/ https://www.ncbi.nlm.nih.gov/pubmed/27676163 http://dx.doi.org/10.1016/j.ipej.2016.07.001 |
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