Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , |
Tipo de documento: | Relatório |
Idioma: | eng |
Título da fonte: | International Journal of Cardiovascular Sciences (Online) |
Texto Completo: | http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472021005004202 |
Resumo: | Abstract Timothy Syndrome is a rare autosomal dominant multisystem genetic condition. The CACNA1C gene, codifier of the CaV1.2 calcium channel, is affected, resulting in the loss of voltage-dependent calcium channel inactivation. Relevant clinical characteristics: (1) corrected QT interval greater than 480ms; (2) syndactyly. Death often occurs during childhood, and results from ventricular tachyarrhythmias. This study presents the case of a female newborn who suffered a cardiorespiratory arrest, secondary to ventricular arrhythmia. A prolonged QT interval, combined with 2:1 AV block, was also identified, requiring a definitive cardiac pacemaker implant that, during inpatient care, developed pulmonary sepsis, followed by death. |
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International Journal of Cardiovascular Sciences (Online) |
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Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy SyndromeLong QT SyndromeSyndactyly/geneticsArrhythmias Cardiac/complicationsDeath SuddenChildAbstract Timothy Syndrome is a rare autosomal dominant multisystem genetic condition. The CACNA1C gene, codifier of the CaV1.2 calcium channel, is affected, resulting in the loss of voltage-dependent calcium channel inactivation. Relevant clinical characteristics: (1) corrected QT interval greater than 480ms; (2) syndactyly. Death often occurs during childhood, and results from ventricular tachyarrhythmias. This study presents the case of a female newborn who suffered a cardiorespiratory arrest, secondary to ventricular arrhythmia. A prolonged QT interval, combined with 2:1 AV block, was also identified, requiring a definitive cardiac pacemaker implant that, during inpatient care, developed pulmonary sepsis, followed by death.Sociedade Brasileira de Cardiologia2021-01-01info:eu-repo/semantics/reportinfo:eu-repo/semantics/publishedVersiontext/htmlhttp://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472021005004202International Journal of Cardiovascular Sciences n.ahead 2021reponame:International Journal of Cardiovascular Sciences (Online)instname:Sociedade Brasileira de Cardiologia (SBC)instacron:SBC10.36660/ijcs.20200061info:eu-repo/semantics/openAccessNascimento,EriveltonTinoco,Carollina FernandesSilva,Camila DinizCortez,Fabiana Ferreira MitidieriKaufman,Renatoeng2022-02-01T00:00:00Zoai:scielo:S2359-56472021005004202Revistahttp://publicacoes.cardiol.br/portal/ijcshttps://old.scielo.br/oai/scielo-oai.phptailanerodrigues@cardiol.br||revistaijcs@cardiol.br2359-56472359-4802opendoar:2022-02-01T00:00International Journal of Cardiovascular Sciences (Online) - Sociedade Brasileira de Cardiologia (SBC)false |
dc.title.none.fl_str_mv |
Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome |
title |
Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome |
spellingShingle |
Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome Nascimento,Erivelton Long QT Syndrome Syndactyly/genetics Arrhythmias Cardiac/complications Death Sudden Child |
title_short |
Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome |
title_full |
Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome |
title_fullStr |
Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome |
title_full_unstemmed |
Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome |
title_sort |
Aborted Sudden Death Due to Severe Ventricular Arrhythmia in Timothy Syndrome |
author |
Nascimento,Erivelton |
author_facet |
Nascimento,Erivelton Tinoco,Carollina Fernandes Silva,Camila Diniz Cortez,Fabiana Ferreira Mitidieri Kaufman,Renato |
author_role |
author |
author2 |
Tinoco,Carollina Fernandes Silva,Camila Diniz Cortez,Fabiana Ferreira Mitidieri Kaufman,Renato |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Nascimento,Erivelton Tinoco,Carollina Fernandes Silva,Camila Diniz Cortez,Fabiana Ferreira Mitidieri Kaufman,Renato |
dc.subject.por.fl_str_mv |
Long QT Syndrome Syndactyly/genetics Arrhythmias Cardiac/complications Death Sudden Child |
topic |
Long QT Syndrome Syndactyly/genetics Arrhythmias Cardiac/complications Death Sudden Child |
description |
Abstract Timothy Syndrome is a rare autosomal dominant multisystem genetic condition. The CACNA1C gene, codifier of the CaV1.2 calcium channel, is affected, resulting in the loss of voltage-dependent calcium channel inactivation. Relevant clinical characteristics: (1) corrected QT interval greater than 480ms; (2) syndactyly. Death often occurs during childhood, and results from ventricular tachyarrhythmias. This study presents the case of a female newborn who suffered a cardiorespiratory arrest, secondary to ventricular arrhythmia. A prolonged QT interval, combined with 2:1 AV block, was also identified, requiring a definitive cardiac pacemaker implant that, during inpatient care, developed pulmonary sepsis, followed by death. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-01-01 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/report |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
format |
report |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472021005004202 |
url |
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2359-56472021005004202 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
10.36660/ijcs.20200061 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
text/html |
dc.publisher.none.fl_str_mv |
Sociedade Brasileira de Cardiologia |
publisher.none.fl_str_mv |
Sociedade Brasileira de Cardiologia |
dc.source.none.fl_str_mv |
International Journal of Cardiovascular Sciences n.ahead 2021 reponame:International Journal of Cardiovascular Sciences (Online) instname:Sociedade Brasileira de Cardiologia (SBC) instacron:SBC |
instname_str |
Sociedade Brasileira de Cardiologia (SBC) |
instacron_str |
SBC |
institution |
SBC |
reponame_str |
International Journal of Cardiovascular Sciences (Online) |
collection |
International Journal of Cardiovascular Sciences (Online) |
repository.name.fl_str_mv |
International Journal of Cardiovascular Sciences (Online) - Sociedade Brasileira de Cardiologia (SBC) |
repository.mail.fl_str_mv |
tailanerodrigues@cardiol.br||revistaijcs@cardiol.br |
_version_ |
1754732627048267776 |