Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants

Campuzano Larrea, Oscar; Fernández-Falgueras, Anna; Lemus, Ximena; Sarquella Brugada, Geòrgia; Cesar, Sergi; Coll Vidal, Mònica; Matés Ramírez, Jesús; Arbelo, Elena; Jordà, Paloma; Perez-Serra, Alexandra; Olmo, Bernat del; Ferrer Costa, Carles; Iglesias, Anna; Fiol, Victoria; Puigmulé, Marta; López López, Laura; Picó, Ferran; Brugada Terradellas, Josep; Brugada, Ramon

Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants

Short QT syndrome, one of the most lethal entities associated with sudden cardiac death, is a rare genetic disease characterized by short QT intervals detected by electrocardiogram. Several genetic variants are causally linked to the disease, but there has yet to be a comprehensive analysis of varia...

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Detalles Bibliográficos
Autores:	Campuzano Larrea, Oscar, Fernández-Falgueras, Anna, Lemus, Ximena, Sarquella Brugada, Geòrgia, Cesar, Sergi, Coll Vidal, Mònica, Matés Ramírez, Jesús, Arbelo, Elena, Jordà, Paloma, Perez-Serra, Alexandra, Olmo, Bernat del, Ferrer Costa, Carles, Iglesias, Anna, Fiol, Victoria, Puigmulé, Marta, López López, Laura, Picó, Ferran, Brugada Terradellas, Josep, Brugada, Ramon
Tipo de recurso:	artículo
Estado:	Versión publicada
Fecha de publicación:	2019
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:10256/18152
Acceso en línea:	http://hdl.handle.net/10256/18152
Access Level:	acceso abierto
Palabra clave:	Mort sobtada Sudden death Cor -- Malalties -- Patogènesi Heart -- Diseases -- Pathogenesis Cor -- Malalties -- Aspectes genètics Heart -- Diseases -- Genetic aspects Síndrome de QT curt Short QT Syndrome

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spelling	Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare VariantsCampuzano Larrea, OscarFernández-Falgueras, AnnaLemus, XimenaSarquella Brugada, GeòrgiaCesar, SergiColl Vidal, MònicaMatés Ramírez, JesúsArbelo, ElenaJordà, PalomaPerez-Serra, AlexandraOlmo, Bernat delFerrer Costa, CarlesIglesias, AnnaFiol, VictoriaPuigmulé, MartaLópez López, LauraPicó, FerranBrugada Terradellas, JosepBrugada, RamonMort sobtadaSudden deathCor -- Malalties -- PatogènesiHeart -- Diseases -- PathogenesisCor -- Malalties -- Aspectes genèticsHeart -- Diseases -- Genetic aspectsSíndrome de QT curtShort QT SyndromeShort QT syndrome, one of the most lethal entities associated with sudden cardiac death, is a rare genetic disease characterized by short QT intervals detected by electrocardiogram. Several genetic variants are causally linked to the disease, but there has yet to be a comprehensive analysis of variants among patients with short QT syndrome. To fill this gap, we performed an exhaustive study of variants currently catalogued as deleterious in short QT syndrome according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Analysis of the 32 variants described in the literature determined that only nine (28.12%) have a conclusive pathogenic role. All definitively pathogenic variants are located in KCNQ1, KCNH2, or KCNJ2; three genes encoding potassium channels. Other variants located in genes encoding calcium or sodium channels are associated with electrical alterations concomitant with shortened QT intervals but do not guarantee a diagnosis of short QT syndrome. We recommend caution regarding previously reported variants classified as pathogenic. An exhaustive re-analysis is necessary to clarify the role of each variant before routinely translating genetic findings to the clinical setting: This work was supported by Obra Social “La Caixa Foundation” (ID 100010434), Fondo Investigacion Sanitaria -FIS PI14/01773 and PI17/01690- from the Instituto de Salud Carlos III (ISCIII), and Fundació Daniel Bravo Andreu. The CIBERCV is an initiative of the ISCIII, Spanish Ministry of Economy and Competitiveness (Fondos FEDER)MDPI (Multidisciplinary Digital Publishing Institute)2019info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionpeer-reviewedapplication/pdfhttp://hdl.handle.net/10256/18152http://hdl.handle.net/10256/18152Journal of Clinical Medicine, 2019, vol. 8, núm. 7, p. 1035Articles publicats (D-CM)reponame:Recercat. Dipósit de la Recerca de Catalunyainstname:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)Inglésinfo:eu-repo/semantics/altIdentifier/doi/10.3390/jcm8071035info:eu-repo/semantics/altIdentifier/eissn/2077-0383Attribution 4.0 Internationalhttp://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:recercat.cat:10256/181522026-05-29T05:05:01Z
dc.title.none.fl_str_mv	Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants
title	Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants
spellingShingle	Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants Campuzano Larrea, Oscar Mort sobtada Sudden death Cor -- Malalties -- Patogènesi Heart -- Diseases -- Pathogenesis Cor -- Malalties -- Aspectes genètics Heart -- Diseases -- Genetic aspects Síndrome de QT curt Short QT Syndrome
title_short	Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants
title_full	Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants
title_fullStr	Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants
title_full_unstemmed	Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants
title_sort	Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants
dc.creator.none.fl_str_mv	Campuzano Larrea, Oscar Fernández-Falgueras, Anna Lemus, Ximena Sarquella Brugada, Geòrgia Cesar, Sergi Coll Vidal, Mònica Matés Ramírez, Jesús Arbelo, Elena Jordà, Paloma Perez-Serra, Alexandra Olmo, Bernat del Ferrer Costa, Carles Iglesias, Anna Fiol, Victoria Puigmulé, Marta López López, Laura Picó, Ferran Brugada Terradellas, Josep Brugada, Ramon
author	Campuzano Larrea, Oscar
author_facet	Campuzano Larrea, Oscar Fernández-Falgueras, Anna Lemus, Ximena Sarquella Brugada, Geòrgia Cesar, Sergi Coll Vidal, Mònica Matés Ramírez, Jesús Arbelo, Elena Jordà, Paloma Perez-Serra, Alexandra Olmo, Bernat del Ferrer Costa, Carles Iglesias, Anna Fiol, Victoria Puigmulé, Marta López López, Laura Picó, Ferran Brugada Terradellas, Josep Brugada, Ramon
author_role	author
author2	Fernández-Falgueras, Anna Lemus, Ximena Sarquella Brugada, Geòrgia Cesar, Sergi Coll Vidal, Mònica Matés Ramírez, Jesús Arbelo, Elena Jordà, Paloma Perez-Serra, Alexandra Olmo, Bernat del Ferrer Costa, Carles Iglesias, Anna Fiol, Victoria Puigmulé, Marta López López, Laura Picó, Ferran Brugada Terradellas, Josep Brugada, Ramon
author2_role	author author author author author author author author author author author author author author author author author author
dc.subject.none.fl_str_mv	Mort sobtada Sudden death Cor -- Malalties -- Patogènesi Heart -- Diseases -- Pathogenesis Cor -- Malalties -- Aspectes genètics Heart -- Diseases -- Genetic aspects Síndrome de QT curt Short QT Syndrome
topic	Mort sobtada Sudden death Cor -- Malalties -- Patogènesi Heart -- Diseases -- Pathogenesis Cor -- Malalties -- Aspectes genètics Heart -- Diseases -- Genetic aspects Síndrome de QT curt Short QT Syndrome
description	Short QT syndrome, one of the most lethal entities associated with sudden cardiac death, is a rare genetic disease characterized by short QT intervals detected by electrocardiogram. Several genetic variants are causally linked to the disease, but there has yet to be a comprehensive analysis of variants among patients with short QT syndrome. To fill this gap, we performed an exhaustive study of variants currently catalogued as deleterious in short QT syndrome according to the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Analysis of the 32 variants described in the literature determined that only nine (28.12%) have a conclusive pathogenic role. All definitively pathogenic variants are located in KCNQ1, KCNH2, or KCNJ2; three genes encoding potassium channels. Other variants located in genes encoding calcium or sodium channels are associated with electrical alterations concomitant with shortened QT intervals but do not guarantee a diagnosis of short QT syndrome. We recommend caution regarding previously reported variants classified as pathogenic. An exhaustive re-analysis is necessary to clarify the role of each variant before routinely translating genetic findings to the clinical setting
publishDate	2019
dc.date.none.fl_str_mv	2019
dc.type.none.fl_str_mv	info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion peer-reviewed
format	article
status_str	publishedVersion
dc.identifier.none.fl_str_mv	http://hdl.handle.net/10256/18152 http://hdl.handle.net/10256/18152
url	http://hdl.handle.net/10256/18152
dc.language.none.fl_str_mv	Inglés
language_invalid_str_mv	Inglés
dc.relation.none.fl_str_mv	info:eu-repo/semantics/altIdentifier/doi/10.3390/jcm8071035 info:eu-repo/semantics/altIdentifier/eissn/2077-0383
dc.rights.none.fl_str_mv	Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess
rights_invalid_str_mv	Attribution 4.0 International http://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv	openAccess
dc.format.none.fl_str_mv	application/pdf
dc.publisher.none.fl_str_mv	MDPI (Multidisciplinary Digital Publishing Institute)
publisher.none.fl_str_mv	MDPI (Multidisciplinary Digital Publishing Institute)
dc.source.none.fl_str_mv	Journal of Clinical Medicine, 2019, vol. 8, núm. 7, p. 1035 Articles publicats (D-CM) 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)
reponame_str	Recercat. Dipósit de la Recerca de Catalunya
collection	Recercat. Dipósit de la Recerca de Catalunya
repository.name.fl_str_mv
repository.mail.fl_str_mv
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Short QT Syndrome: A Comprehensive Genetic Interpretation and Clinical Translation of Rare Variants

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