Early identification of prolonged QT interval for prevention of sudden infant death

Introduction: Long QT syndrome is the main arrhythmogenic disease responsible for sudden death in infants, especially in the first days of life. Performing an electrocardiogram in newborns could enable early diagnosis and adoption of therapeutic measures focused on preventing lethal arrhythmogenic e...

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Autores: Sarquella-Brugada, Georgia, Martí Almor, Julio, Campuzano, Oscar
Tipo de recurso: artículo
Estado:Versión publicada
Fecha de publicación:2021
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10230/53425
Acceso en línea:http://hdl.handle.net/10230/53425
http://dx.doi.org/10.3389/fped.2021.704580
Access Level:acceso abierto
Palabra clave:Electrocardiogram
Family segregation
Genetics
Long QT syndrome
Sudden cardiac death
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spelling Early identification of prolonged QT interval for prevention of sudden infant deathSarquella-Brugada, GeorgiaMartí Almor, JulioCampuzano, OscarElectrocardiogramFamily segregationGeneticsLong QT syndromeSudden cardiac deathIntroduction: Long QT syndrome is the main arrhythmogenic disease responsible for sudden death in infants, especially in the first days of life. Performing an electrocardiogram in newborns could enable early diagnosis and adoption of therapeutic measures focused on preventing lethal arrhythmogenic events. However, the inclusion of an electrocardiogram in neonatal screening protocols still remains a matter of discussion. To comprehensively analyse the potential clinical value of performing an electrocardiogram and subsequent follow-up in a cohort of newborns. Methods: Electrocardiograms were performed in 685 neonates within the first week of life. One year follow-up was performed if QTc > 450 ms identified. Comprehensive genetic analysis using massive sequencing was performed in all cases with QTc > 470 ms. Results: We identified 54 neonates with QTc > 450 ms/ <470 ms; all normalized QTc values within 6 months. Eight cases had QTc > 480 ms at birth and, if persistent, pharmacological treatment was administrated during follow-up. A rare variant was identified as the potential cause of long QT syndrome in five cases. Three cases showed a family history of sudden arrhythmogenic death. Conclusions: Our prospective study identifies 0.14% of cases with a definite long QT, supporting implementation of electrocardiograms in routine pediatric protocols. It is an effective, simple and non-invasive approach that can help prevent sudden death in neonates and their relatives. Genetic analyses help to unravel the cause of arrhythmogenic disease in diagnosing neonates. Further, clinical assessment and genetic analysis of relatives allowed early identification of family members at risk of arrhythmias helping to adopt preventive personalized measures.Frontiers202220222021info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfapplication/pdfhttp://hdl.handle.net/10230/53425http://dx.doi.org/10.3389/fped.2021.704580reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)InglésCopyright © 2021 Sarquella-Brugada, García-Algar, Zambrano, Fernández-Falgueres, Sailer, Cesar, Sebastiani, Martí-Almor, Aurensanz, Cruzalegui, Merchan, Coll, Pérez-Serra, Olmo, Fiol, Iglesias, Ferrer-Costa, Puigmulé, Lopez, Pico, Arbelo, Jordà, Brugada, Brugada and Campuzano. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). https://creativecommons.org/licenses/by/4.0/. The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.http://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10230/534252026-05-29T05:05:01Z
dc.title.none.fl_str_mv Early identification of prolonged QT interval for prevention of sudden infant death
title Early identification of prolonged QT interval for prevention of sudden infant death
spellingShingle Early identification of prolonged QT interval for prevention of sudden infant death
Sarquella-Brugada, Georgia
Electrocardiogram
Family segregation
Genetics
Long QT syndrome
Sudden cardiac death
title_short Early identification of prolonged QT interval for prevention of sudden infant death
title_full Early identification of prolonged QT interval for prevention of sudden infant death
title_fullStr Early identification of prolonged QT interval for prevention of sudden infant death
title_full_unstemmed Early identification of prolonged QT interval for prevention of sudden infant death
title_sort Early identification of prolonged QT interval for prevention of sudden infant death
dc.creator.none.fl_str_mv Sarquella-Brugada, Georgia
Martí Almor, Julio
Campuzano, Oscar
author Sarquella-Brugada, Georgia
author_facet Sarquella-Brugada, Georgia
Martí Almor, Julio
Campuzano, Oscar
author_role author
author2 Martí Almor, Julio
Campuzano, Oscar
author2_role author
author
dc.subject.none.fl_str_mv Electrocardiogram
Family segregation
Genetics
Long QT syndrome
Sudden cardiac death
topic Electrocardiogram
Family segregation
Genetics
Long QT syndrome
Sudden cardiac death
description Introduction: Long QT syndrome is the main arrhythmogenic disease responsible for sudden death in infants, especially in the first days of life. Performing an electrocardiogram in newborns could enable early diagnosis and adoption of therapeutic measures focused on preventing lethal arrhythmogenic events. However, the inclusion of an electrocardiogram in neonatal screening protocols still remains a matter of discussion. To comprehensively analyse the potential clinical value of performing an electrocardiogram and subsequent follow-up in a cohort of newborns. Methods: Electrocardiograms were performed in 685 neonates within the first week of life. One year follow-up was performed if QTc > 450 ms identified. Comprehensive genetic analysis using massive sequencing was performed in all cases with QTc > 470 ms. Results: We identified 54 neonates with QTc > 450 ms/ <470 ms; all normalized QTc values within 6 months. Eight cases had QTc > 480 ms at birth and, if persistent, pharmacological treatment was administrated during follow-up. A rare variant was identified as the potential cause of long QT syndrome in five cases. Three cases showed a family history of sudden arrhythmogenic death. Conclusions: Our prospective study identifies 0.14% of cases with a definite long QT, supporting implementation of electrocardiograms in routine pediatric protocols. It is an effective, simple and non-invasive approach that can help prevent sudden death in neonates and their relatives. Genetic analyses help to unravel the cause of arrhythmogenic disease in diagnosing neonates. Further, clinical assessment and genetic analysis of relatives allowed early identification of family members at risk of arrhythmias helping to adopt preventive personalized measures.
publishDate 2021
dc.date.none.fl_str_mv 2021
2022
2022
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
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status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/10230/53425
http://dx.doi.org/10.3389/fped.2021.704580
url http://hdl.handle.net/10230/53425
http://dx.doi.org/10.3389/fped.2021.704580
dc.language.none.fl_str_mv Inglés
language_invalid_str_mv Inglés
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info:eu-repo/semantics/openAccess
rights_invalid_str_mv http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
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application/pdf
dc.publisher.none.fl_str_mv Frontiers
publisher.none.fl_str_mv Frontiers
dc.source.none.fl_str_mv reponame:Recercat. Dipósit de la Recerca de Catalunya
instname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
instname_str Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
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