Campo DC | Valor | Idioma |
dc.contributor.author | Santana, Oto Oliveira | - |
dc.contributor.author | Sternick, Eduardo Back | - |
dc.contributor.author | Oliva, Antônio | - |
dc.contributor.author | Magalhães, Luiz P. | - |
dc.contributor.author | Gerken, Luiz M. | - |
dc.contributor.author | Kui, Hong | - |
dc.contributor.author | Brugada, Pedro | - |
dc.contributor.author | Brugada, Josep | - |
dc.contributor.author | Brugada, Ramon | - |
dc.creator | Santana, Oto Oliveira | - |
dc.creator | Sternick, Eduardo Back | - |
dc.creator | Oliva, Antônio | - |
dc.creator | Magalhães, Luiz P. | - |
dc.creator | Gerken, Luiz M. | - |
dc.creator | Kui, Hong | - |
dc.creator | Brugada, Pedro | - |
dc.creator | Brugada, Josep | - |
dc.creator | Brugada, Ramon | - |
dc.date.accessioned | 2013-10-31T17:56:55Z | - |
dc.date.issued | 2006 | - |
dc.identifier.issn | 1045-3873 | - |
dc.identifier.uri | http://repositorio.ufba.br/ri/handle/ri/13417 | - |
dc.description | Texto completo: acesso restrito. p.724–732 | pt_BR |
dc.description.abstract | Introduction: 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. | pt_BR |
dc.language.iso | en | pt_BR |
dc.rights | Acesso Aberto | pt_BR |
dc.source | http://dx.doi.org/ 10.1111/j.1540-8167.2006.00485.x | pt_BR |
dc.subject | Prkag2 | pt_BR |
dc.subject | Missense mutation | pt_BR |
dc.subject | Familial RBBB and short PR interval | pt_BR |
dc.subject | Familial atrioventricular block | pt_BR |
dc.subject | Familial atrial flutter | pt_BR |
dc.subject | Familial atrial fibrillation | pt_BR |
dc.subject | Sinus bradycardia | pt_BR |
dc.subject | Sick sinus syndrome | pt_BR |
dc.title | Familial Pseudo-Wolff-Parkinson-White Syndrome | pt_BR |
dc.title.alternative | Journal of Cardiovascular Electrophysiology | pt_BR |
dc.type | Artigo de Periódico | pt_BR |
dc.identifier.number | v.17 n. 7 | pt_BR |
dc.embargo.liftdate | 10000-01-01 | - |
Aparece nas coleções: | Artigo Publicado em Periódico (Faculdade de Medicina)
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