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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...

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Autores principales: Lakshmanadoss, U., Mertens, A., Gallagher, M., Kutinsky, I., Williamson, B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
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).
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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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