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metadata.dc.type: | Artigo de Periódico |
Title: | Familial Pseudo-Wolff-Parkinson-White Syndrome |
Other Titles: | Journal of Cardiovascular Electrophysiology |
Authors: | Santana, Oto Oliveira Sternick, Eduardo Back Oliva, Antônio Magalhães, Luiz P. Gerken, Luiz M. Kui, Hong Brugada, Pedro Brugada, Josep Brugada, Ramon |
metadata.dc.creator: | Santana, Oto Oliveira Sternick, Eduardo Back Oliva, Antônio Magalhães, Luiz P. Gerken, Luiz M. Kui, Hong Brugada, Pedro Brugada, Josep Brugada, Ramon |
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. |
Keywords: | Prkag2 Missense mutation Familial RBBB and short PR interval Familial atrioventricular block Familial atrial flutter Familial atrial fibrillation Sinus bradycardia Sick sinus syndrome |
metadata.dc.rights: | Acesso Aberto |
URI: | http://repositorio.ufba.br/ri/handle/ri/13417 |
Issue Date: | 2006 |
Appears in Collections: | Artigo Publicado em Periódico (Faculdade de Medicina) |
Files in This Item:
File | Description | Size | Format | |
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j.1540-8167.2006.00485.x.pdf | 542,65 kB | Adobe PDF | View/Open |
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