Familial Pseudo-Wolff-Parkinson-White Syndrome

Bibliographic Details
Main Author: Santana, Oto Oliveira
Publication Date: 2006
Other Authors: Sternick, Eduardo Back, Oliva, Antônio, Magalhães, Luiz P., Gerken, Luiz M., Kui, Hong, Brugada, Pedro, Brugada, Josep, Brugada, Ramon
Format: Article
Language: eng
Source: Repositório Institucional da UFBA
Download full: http://repositorio.ufba.br/ri/handle/ri/13417
Summary: Texto completo: acesso restrito. p.724–732
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spelling Santana, Oto OliveiraSternick, Eduardo BackOliva, AntônioMagalhães, Luiz P.Gerken, Luiz M.Kui, HongBrugada, PedroBrugada, JosepBrugada, RamonSantana, Oto OliveiraSternick, Eduardo BackOliva, AntônioMagalhães, Luiz P.Gerken, Luiz M.Kui, HongBrugada, PedroBrugada, JosepBrugada, Ramon2013-10-31T17:56:55Z20061045-3873http://repositorio.ufba.br/ri/handle/ri/13417v.17 n. 7Texto completo: acesso restrito. p.724–732Introduction: PRKAG2 plays a role in regulating metabolic pathways, and mutations in this gene are associated with familial ventricular preexcitation, hypertrophic cardiomyopathy, and atrioventricular conduction disturbances. Clinico-pathologic and experimental data suggest the hypothesis of a glycogen storage disease. Objective: To report a unique pattern of clinical features observed in individuals with a mutant PRKAG2 from two unrelated families. Methods and Results: We studied two large families and found a total of 20 affected individuals showing a combination of sinus bradycardia, short PR interval, RBBB, intra and infrahisian conduction disturbances often requiring a pacemaker, and atrial tachyarrhythmias. Three individuals died suddenly at a young age. No patient had the Wolff-Parkinson-White (WPW) syndrome, and only two patients (10%) had myocardial hypertrophy. We performed screening of the exons and exon-intron boundaries of PRKAG2. Genetic analysis revealed a missense mutation (Arg302Gln) in the affected individuals from both families. This mutation had been described before and has been associated with the familial form of the WPW syndrome and with a high prevalence of left ventricular hypertrophy. Conclusion: PRKAG2 mutations are responsible for a diverse phenotype and not only the familial form of the WPW syndrome. Familial occurrence of right bundle branch block, sinus bradycardia, and short PR interval should raise suspicion of a mutant PRKAG2 gene.Submitted by Edileide Reis (leyde-landy@hotmail.com) on 2013-08-12T12:14:43Z No. of bitstreams: 1 j.1540-8167.2006.00485.x.pdf: 555669 bytes, checksum: 3e1d2fb745967d2354ad085a0c4943b8 (MD5)Approved for entry into archive by Rodrigo Meirelles (rodrigomei@ufba.br) on 2013-10-31T17:56:55Z (GMT) No. of bitstreams: 1 j.1540-8167.2006.00485.x.pdf: 555669 bytes, checksum: 3e1d2fb745967d2354ad085a0c4943b8 (MD5)Made available in DSpace on 2013-10-31T17:56:55Z (GMT). No. of bitstreams: 1 j.1540-8167.2006.00485.x.pdf: 555669 bytes, checksum: 3e1d2fb745967d2354ad085a0c4943b8 (MD5) Previous issue date: 2006http://dx.doi.org/ 10.1111/j.1540-8167.2006.00485.xreponame:Repositório Institucional da UFBAinstname:Universidade Federal da Bahia (UFBA)instacron:UFBAPrkag2Missense mutationFamilial RBBB and short PR intervalFamilial atrioventricular blockFamilial atrial flutterFamilial atrial fibrillationSinus bradycardiaSick sinus syndromeFamilial Pseudo-Wolff-Parkinson-White SyndromeJournal of Cardiovascular Electrophysiologyinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/article10000-01-01info:eu-repo/semantics/openAccessengORIGINALj.1540-8167.2006.00485.x.pdfj.1540-8167.2006.00485.x.pdfapplication/pdf555669https://repositorio.ufba.br/bitstream/ri/13417/1/j.1540-8167.2006.00485.x.pdf3e1d2fb745967d2354ad085a0c4943b8MD51LICENSElicense.txtlicense.txttext/plain1762https://repositorio.ufba.br/bitstream/ri/13417/2/license.txt1b89a9a0548218172d7c829f87a0eab9MD52TEXTj.1540-8167.2006.00485.x.pdf.txtj.1540-8167.2006.00485.x.pdf.txtExtracted texttext/plain32633https://repositorio.ufba.br/bitstream/ri/13417/3/j.1540-8167.2006.00485.x.pdf.txt94f74d5faae1d3ab9b650ca4102bed6bMD53ri/134172022-07-05 14:02:57.256oai:repositorio.ufba.br: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Repositório InstitucionalPUBhttp://192.188.11.11:8080/oai/requestopendoar:19322022-07-05T17:02:57Repositório Institucional da UFBA - Universidade Federal da Bahia (UFBA)false
dc.title.pt_BR.fl_str_mv Familial Pseudo-Wolff-Parkinson-White Syndrome
dc.title.alternative.pt_BR.fl_str_mv Journal of Cardiovascular Electrophysiology
title Familial Pseudo-Wolff-Parkinson-White Syndrome
spellingShingle Familial Pseudo-Wolff-Parkinson-White Syndrome
Santana, Oto Oliveira
Prkag2
Missense mutation
Familial RBBB and short PR interval
Familial atrioventricular block
Familial atrial flutter
Familial atrial fibrillation
Sinus bradycardia
Sick sinus syndrome
title_short Familial Pseudo-Wolff-Parkinson-White Syndrome
title_full Familial Pseudo-Wolff-Parkinson-White Syndrome
title_fullStr Familial Pseudo-Wolff-Parkinson-White Syndrome
title_full_unstemmed Familial Pseudo-Wolff-Parkinson-White Syndrome
title_sort Familial Pseudo-Wolff-Parkinson-White Syndrome
author Santana, Oto Oliveira
author_facet Santana, Oto Oliveira
Sternick, Eduardo Back
Oliva, Antônio
Magalhães, Luiz P.
Gerken, Luiz M.
Kui, Hong
Brugada, Pedro
Brugada, Josep
Brugada, Ramon
author_role author
author2 Sternick, Eduardo Back
Oliva, Antônio
Magalhães, Luiz P.
Gerken, Luiz M.
Kui, Hong
Brugada, Pedro
Brugada, Josep
Brugada, Ramon
author2_role author
author
author
author
author
author
author
author
dc.contributor.author.fl_str_mv Santana, Oto Oliveira
Sternick, Eduardo Back
Oliva, Antônio
Magalhães, Luiz P.
Gerken, Luiz M.
Kui, Hong
Brugada, Pedro
Brugada, Josep
Brugada, Ramon
Santana, Oto Oliveira
Sternick, Eduardo Back
Oliva, Antônio
Magalhães, Luiz P.
Gerken, Luiz M.
Kui, Hong
Brugada, Pedro
Brugada, Josep
Brugada, Ramon
dc.subject.por.fl_str_mv Prkag2
Missense mutation
Familial RBBB and short PR interval
Familial atrioventricular block
Familial atrial flutter
Familial atrial fibrillation
Sinus bradycardia
Sick sinus syndrome
topic Prkag2
Missense mutation
Familial RBBB and short PR interval
Familial atrioventricular block
Familial atrial flutter
Familial atrial fibrillation
Sinus bradycardia
Sick sinus syndrome
description Texto completo: acesso restrito. p.724–732
publishDate 2006
dc.date.issued.fl_str_mv 2006
dc.date.accessioned.fl_str_mv 2013-10-31T17:56:55Z
dc.type.status.fl_str_mv info:eu-repo/semantics/publishedVersion
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv http://repositorio.ufba.br/ri/handle/ri/13417
dc.identifier.issn.none.fl_str_mv 1045-3873
dc.identifier.number.pt_BR.fl_str_mv v.17 n. 7
identifier_str_mv 1045-3873
v.17 n. 7
url http://repositorio.ufba.br/ri/handle/ri/13417
dc.language.iso.fl_str_mv eng
language eng
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
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dc.source.none.fl_str_mv reponame:Repositório Institucional da UFBA
instname:Universidade Federal da Bahia (UFBA)
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reponame_str Repositório Institucional da UFBA
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