Correlation between functional and ultrastructural substrate in Brugada syndrome

Autores
Tauber, Pablo E.; Mansilla, Virginia; Mercau Torres, Guillermo Adolfo; Albano, Félix; Corbalán, Ricardo R.; Sanchez, Sara Serafina del V.; Honore, Stella Maris
Año de publicación
2016
Idioma
inglés
Tipo de recurso
artículo
Estado
versión publicada
Descripción
Brugada syndrome (BS) was reported for the first time in 1992 and is associated with an ST-segment elevation in the right precordial leads in the absence of any demonstrable structural heart disease, as well as with sudden cardiac death due to ventricular fibrillation (VF).1 A patent type 1 electrocardiogram (ECG) is diagnostic of BS and is characterized by a coved ST-segment elevation of ≥2 mm followed by a negative T wave in >1 right precordial lead (V1 to V3) in the presence or absence of a sodium channel–blocking agent, and in conjunction with 1 of the following: documented VF, polymorphic ventricular tachycardia (VT), a family history of sudden cardiac death at <45 years of age, coved-type ECGs in family members, inducibility of VT/VF with programmed electrical stimulation, syncope, or nocturnal agonal respiration.2 An autosomal dominant disease with incomplete penetrance, BS has been linked to mutations in SCN5A, the gene encoding the alpha subunit of the cardiac sodium channel. Still, SCN5A mutations have been reported in only approximately 20% of patients with BS diagnosed on the basis of clinical criteria, suggesting that other genetic defects or other disease mechanisms may give rise to this clinical picture.
Fil: Tauber, Pablo E.. Provincia de Tucumán. Sistema Provincial de Salud de Tucumán. Hospital Centro de Salud "Zenonj, Santillán"; Argentina
Fil: Mansilla, Virginia. Centro Modelo de Cardiología; Argentina
Fil: Mercau Torres, Guillermo Adolfo. Centro Modelo de Cardiología; Argentina
Fil: Albano, Félix. Provincia de Tucumán. Sistema Provincial de Salud de Tucumán. Hospital Centro de Salud "Zenonj, Santillán"; Argentina
Fil: Corbalán, Ricardo R.. Centro Modelo de Cardiología; Argentina
Fil: Sanchez, Sara Serafina del V.. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto Superior de Investigaciones Biológicas. Departamento de Biología del Desarrollo | Universidad Nacional de Tucumán. Instituto Superior de Investigaciones Biológicas. Departamento de Biología del Desarrollo; Argentina
Fil: Honore, Stella Maris. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto Superior de Investigaciones Biológicas. Departamento de Biología del Desarrollo | Universidad Nacional de Tucumán. Instituto Superior de Investigaciones Biológicas. Departamento de Biología del Desarrollo; Argentina
Materia
Brugada Syndrome
Heart Disease
Ventricular Fibrillation
Nivel de accesibilidad
acceso abierto
Condiciones de uso
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
Repositorio
CONICET Digital (CONICET)
Institución
Consejo Nacional de Investigaciones Científicas y Técnicas
OAI Identificador
oai:ri.conicet.gov.ar:11336/50632
Acceder
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oai_identifier_str oai:ri.conicet.gov.ar:11336/50632
network_acronym_str CONICETDig
repository_id_str 3498
network_name_str CONICET Digital (CONICET)
spelling Correlation between functional and ultrastructural substrate in Brugada syndromeTauber, Pablo E.Mansilla, VirginiaMercau Torres, Guillermo AdolfoAlbano, FélixCorbalán, Ricardo R.Sanchez, Sara Serafina del V.Honore, Stella MarisBrugada SyndromeHeart DiseaseVentricular Fibrillationhttps://purl.org/becyt/ford/1.6https://purl.org/becyt/ford/1Brugada syndrome (BS) was reported for the first time in 1992 and is associated with an ST-segment elevation in the right precordial leads in the absence of any demonstrable structural heart disease, as well as with sudden cardiac death due to ventricular fibrillation (VF).1 A patent type 1 electrocardiogram (ECG) is diagnostic of BS and is characterized by a coved ST-segment elevation of ≥2 mm followed by a negative T wave in >1 right precordial lead (V1 to V3) in the presence or absence of a sodium channel–blocking agent, and in conjunction with 1 of the following: documented VF, polymorphic ventricular tachycardia (VT), a family history of sudden cardiac death at <45 years of age, coved-type ECGs in family members, inducibility of VT/VF with programmed electrical stimulation, syncope, or nocturnal agonal respiration.2 An autosomal dominant disease with incomplete penetrance, BS has been linked to mutations in SCN5A, the gene encoding the alpha subunit of the cardiac sodium channel. Still, SCN5A mutations have been reported in only approximately 20% of patients with BS diagnosed on the basis of clinical criteria, suggesting that other genetic defects or other disease mechanisms may give rise to this clinical picture.Fil: Tauber, Pablo E.. Provincia de Tucumán. Sistema Provincial de Salud de Tucumán. Hospital Centro de Salud "Zenonj, Santillán"; ArgentinaFil: Mansilla, Virginia. Centro Modelo de Cardiología; ArgentinaFil: Mercau Torres, Guillermo Adolfo. Centro Modelo de Cardiología; ArgentinaFil: Albano, Félix. Provincia de Tucumán. Sistema Provincial de Salud de Tucumán. Hospital Centro de Salud "Zenonj, Santillán"; ArgentinaFil: Corbalán, Ricardo R.. Centro Modelo de Cardiología; ArgentinaFil: Sanchez, Sara Serafina del V.. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto Superior de Investigaciones Biológicas. Departamento de Biología del Desarrollo | Universidad Nacional de Tucumán. Instituto Superior de Investigaciones Biológicas. Departamento de Biología del Desarrollo; ArgentinaFil: Honore, Stella Maris. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto Superior de Investigaciones Biológicas. Departamento de Biología del Desarrollo | Universidad Nacional de Tucumán. Instituto Superior de Investigaciones Biológicas. Departamento de Biología del Desarrollo; ArgentinaElsevier2016-05info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionhttp://purl.org/coar/resource_type/c_6501info:ar-repo/semantics/articuloapplication/pdfapplication/pdfhttp://hdl.handle.net/11336/50632Tauber, Pablo E.; Mansilla, Virginia; Mercau Torres, Guillermo Adolfo; Albano, Félix; Corbalán, Ricardo R.; et al.; Correlation between functional and ultrastructural substrate in Brugada syndrome; Elsevier; HeartRhythm Case Reports; 2; 3; 5-2016; 211-2162214-0271CONICET DigitalCONICETenginfo:eu-repo/semantics/altIdentifier/doi/10.1016%2Fj.hrcr.2015.12.001info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S2214027115002699info:eu-repo/semantics/openAccesshttps://creativecommons.org/licenses/by-nc-nd/2.5/ar/reponame:CONICET Digital (CONICET)instname:Consejo Nacional de Investigaciones Científicas y Técnicas2025-09-03T10:06:44Zoai:ri.conicet.gov.ar:11336/50632instacron:CONICETInstitucionalhttp://ri.conicet.gov.ar/Organismo científico-tecnológicoNo correspondehttp://ri.conicet.gov.ar/oai/requestdasensio@conicet.gov.ar; lcarlino@conicet.gov.arArgentinaNo correspondeNo correspondeNo correspondeopendoar:34982025-09-03 10:06:44.565CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicasfalse
dc.title.none.fl_str_mv Correlation between functional and ultrastructural substrate in Brugada syndrome
title Correlation between functional and ultrastructural substrate in Brugada syndrome
spellingShingle Correlation between functional and ultrastructural substrate in Brugada syndrome
Tauber, Pablo E.
Brugada Syndrome
Heart Disease
Ventricular Fibrillation
title_short Correlation between functional and ultrastructural substrate in Brugada syndrome
title_full Correlation between functional and ultrastructural substrate in Brugada syndrome
title_fullStr Correlation between functional and ultrastructural substrate in Brugada syndrome
title_full_unstemmed Correlation between functional and ultrastructural substrate in Brugada syndrome
title_sort Correlation between functional and ultrastructural substrate in Brugada syndrome
dc.creator.none.fl_str_mv Tauber, Pablo E.
Mansilla, Virginia
Mercau Torres, Guillermo Adolfo
Albano, Félix
Corbalán, Ricardo R.
Sanchez, Sara Serafina del V.
Honore, Stella Maris
author Tauber, Pablo E.
author_facet Tauber, Pablo E.
Mansilla, Virginia
Mercau Torres, Guillermo Adolfo
Albano, Félix
Corbalán, Ricardo R.
Sanchez, Sara Serafina del V.
Honore, Stella Maris
author_role author
author2 Mansilla, Virginia
Mercau Torres, Guillermo Adolfo
Albano, Félix
Corbalán, Ricardo R.
Sanchez, Sara Serafina del V.
Honore, Stella Maris
author2_role author
author
author
author
author
author
dc.subject.none.fl_str_mv Brugada Syndrome
Heart Disease
Ventricular Fibrillation
topic Brugada Syndrome
Heart Disease
Ventricular Fibrillation
purl_subject.fl_str_mv https://purl.org/becyt/ford/1.6
https://purl.org/becyt/ford/1
dc.description.none.fl_txt_mv Brugada syndrome (BS) was reported for the first time in 1992 and is associated with an ST-segment elevation in the right precordial leads in the absence of any demonstrable structural heart disease, as well as with sudden cardiac death due to ventricular fibrillation (VF).1 A patent type 1 electrocardiogram (ECG) is diagnostic of BS and is characterized by a coved ST-segment elevation of ≥2 mm followed by a negative T wave in >1 right precordial lead (V1 to V3) in the presence or absence of a sodium channel–blocking agent, and in conjunction with 1 of the following: documented VF, polymorphic ventricular tachycardia (VT), a family history of sudden cardiac death at <45 years of age, coved-type ECGs in family members, inducibility of VT/VF with programmed electrical stimulation, syncope, or nocturnal agonal respiration.2 An autosomal dominant disease with incomplete penetrance, BS has been linked to mutations in SCN5A, the gene encoding the alpha subunit of the cardiac sodium channel. Still, SCN5A mutations have been reported in only approximately 20% of patients with BS diagnosed on the basis of clinical criteria, suggesting that other genetic defects or other disease mechanisms may give rise to this clinical picture.
Fil: Tauber, Pablo E.. Provincia de Tucumán. Sistema Provincial de Salud de Tucumán. Hospital Centro de Salud "Zenonj, Santillán"; Argentina
Fil: Mansilla, Virginia. Centro Modelo de Cardiología; Argentina
Fil: Mercau Torres, Guillermo Adolfo. Centro Modelo de Cardiología; Argentina
Fil: Albano, Félix. Provincia de Tucumán. Sistema Provincial de Salud de Tucumán. Hospital Centro de Salud "Zenonj, Santillán"; Argentina
Fil: Corbalán, Ricardo R.. Centro Modelo de Cardiología; Argentina
Fil: Sanchez, Sara Serafina del V.. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto Superior de Investigaciones Biológicas. Departamento de Biología del Desarrollo | Universidad Nacional de Tucumán. Instituto Superior de Investigaciones Biológicas. Departamento de Biología del Desarrollo; Argentina
Fil: Honore, Stella Maris. Consejo Nacional de Investigaciones Científicas y Técnicas. Centro Científico Tecnológico Conicet - Tucumán. Instituto Superior de Investigaciones Biológicas. Departamento de Biología del Desarrollo | Universidad Nacional de Tucumán. Instituto Superior de Investigaciones Biológicas. Departamento de Biología del Desarrollo; Argentina
description Brugada syndrome (BS) was reported for the first time in 1992 and is associated with an ST-segment elevation in the right precordial leads in the absence of any demonstrable structural heart disease, as well as with sudden cardiac death due to ventricular fibrillation (VF).1 A patent type 1 electrocardiogram (ECG) is diagnostic of BS and is characterized by a coved ST-segment elevation of ≥2 mm followed by a negative T wave in >1 right precordial lead (V1 to V3) in the presence or absence of a sodium channel–blocking agent, and in conjunction with 1 of the following: documented VF, polymorphic ventricular tachycardia (VT), a family history of sudden cardiac death at <45 years of age, coved-type ECGs in family members, inducibility of VT/VF with programmed electrical stimulation, syncope, or nocturnal agonal respiration.2 An autosomal dominant disease with incomplete penetrance, BS has been linked to mutations in SCN5A, the gene encoding the alpha subunit of the cardiac sodium channel. Still, SCN5A mutations have been reported in only approximately 20% of patients with BS diagnosed on the basis of clinical criteria, suggesting that other genetic defects or other disease mechanisms may give rise to this clinical picture.
publishDate 2016
dc.date.none.fl_str_mv 2016-05
dc.type.none.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
http://purl.org/coar/resource_type/c_6501
info:ar-repo/semantics/articulo
format article
status_str publishedVersion
dc.identifier.none.fl_str_mv http://hdl.handle.net/11336/50632
Tauber, Pablo E.; Mansilla, Virginia; Mercau Torres, Guillermo Adolfo; Albano, Félix; Corbalán, Ricardo R.; et al.; Correlation between functional and ultrastructural substrate in Brugada syndrome; Elsevier; HeartRhythm Case Reports; 2; 3; 5-2016; 211-216
2214-0271
CONICET Digital
CONICET
url http://hdl.handle.net/11336/50632
identifier_str_mv Tauber, Pablo E.; Mansilla, Virginia; Mercau Torres, Guillermo Adolfo; Albano, Félix; Corbalán, Ricardo R.; et al.; Correlation between functional and ultrastructural substrate in Brugada syndrome; Elsevier; HeartRhythm Case Reports; 2; 3; 5-2016; 211-216
2214-0271
CONICET Digital
CONICET
dc.language.none.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv info:eu-repo/semantics/altIdentifier/doi/10.1016%2Fj.hrcr.2015.12.001
info:eu-repo/semantics/altIdentifier/url/https://www.sciencedirect.com/science/article/pii/S2214027115002699
dc.rights.none.fl_str_mv info:eu-repo/semantics/openAccess
https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
eu_rights_str_mv openAccess
rights_invalid_str_mv https://creativecommons.org/licenses/by-nc-nd/2.5/ar/
dc.format.none.fl_str_mv application/pdf
application/pdf
dc.publisher.none.fl_str_mv Elsevier
publisher.none.fl_str_mv Elsevier
dc.source.none.fl_str_mv reponame:CONICET Digital (CONICET)
instname:Consejo Nacional de Investigaciones Científicas y Técnicas
reponame_str CONICET Digital (CONICET)
collection CONICET Digital (CONICET)
instname_str Consejo Nacional de Investigaciones Científicas y Técnicas
repository.name.fl_str_mv CONICET Digital (CONICET) - Consejo Nacional de Investigaciones Científicas y Técnicas
repository.mail.fl_str_mv dasensio@conicet.gov.ar; lcarlino@conicet.gov.ar
_version_ 1842269972070400000
score 13.13397

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