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...

Full description

Bibliographic Details
Main Authors: U. Lakshmanadoss, A. Mertens, M. Gallagher, I. Kutinsky, B. Williamson
Format: Article
Language:English
Published: Elsevier 2016-03-01
Series:Indian Pacing and Electrophysiology Journal
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S0972629216313067
_version_ 1811298893518864384
author U. Lakshmanadoss
A. Mertens
M. Gallagher
I. Kutinsky
B. Williamson
author_facet U. Lakshmanadoss
A. Mertens
M. Gallagher
I. Kutinsky
B. Williamson
author_sort U. Lakshmanadoss
collection DOAJ
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).
first_indexed 2024-04-13T06:27:03Z
format Article
id doaj.art-175c821d57a746dcaaff78ada254477b
institution Directory Open Access Journal
issn 0972-6292
language English
last_indexed 2024-04-13T06:27:03Z
publishDate 2016-03-01
publisher Elsevier
record_format Article
series Indian Pacing and Electrophysiology Journal
spelling doaj.art-175c821d57a746dcaaff78ada254477b2022-12-22T02:58:22ZengElsevierIndian Pacing and Electrophysiology Journal0972-62922016-03-01162666910.1016/j.ipej.2016.07.001Sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of Brugada and Long QT3 syndromesU. Lakshmanadoss0A. Mertens1M. Gallagher2I. Kutinsky3B. Williamson4Division of Cardiology, LSUHSC Shreveport, LA, United StatesDepartment of Medicine, William Beaumont Hospital, Oakland University School of Medicine, Royal Oak, MI, United StatesDivision of Cardiology, William Beaumont Hospital, Oakland University School of Medicine, Royal Oak, MI, United StatesDivision of Cardiology, William Beaumont Hospital, Oakland University School of Medicine, Royal Oak, MI, United StatesDivision of Cardiology, William Beaumont Hospital, Oakland University School of Medicine, Royal Oak, MI, United StatesInherited 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).http://www.sciencedirect.com/science/article/pii/S0972629216313067Sudden cardiac arrestBrugada syndromeLQT3 syndromeSCN5A mutation
spellingShingle U. Lakshmanadoss
A. Mertens
M. Gallagher
I. Kutinsky
B. Williamson
Sudden cardiac arrest due to a single sodium channel mutation producing a mixed phenotype of Brugada and Long QT3 syndromes
Indian Pacing and Electrophysiology Journal
Sudden cardiac arrest
Brugada syndrome
LQT3 syndrome
SCN5A mutation
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 Sudden cardiac arrest
Brugada syndrome
LQT3 syndrome
SCN5A mutation
url http://www.sciencedirect.com/science/article/pii/S0972629216313067
work_keys_str_mv AT ulakshmanadoss suddencardiacarrestduetoasinglesodiumchannelmutationproducingamixedphenotypeofbrugadaandlongqt3syndromes
AT amertens suddencardiacarrestduetoasinglesodiumchannelmutationproducingamixedphenotypeofbrugadaandlongqt3syndromes
AT mgallagher suddencardiacarrestduetoasinglesodiumchannelmutationproducingamixedphenotypeofbrugadaandlongqt3syndromes
AT ikutinsky suddencardiacarrestduetoasinglesodiumchannelmutationproducingamixedphenotypeofbrugadaandlongqt3syndromes
AT bwilliamson suddencardiacarrestduetoasinglesodiumchannelmutationproducingamixedphenotypeofbrugadaandlongqt3syndromes