Artigo de Periódico
Familial Pseudo-Wolff-Parkinson-White Syndrome
Fecha
2006Registro en:
1045-3873
v.17 n. 7
Autor
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
Institución
Resumen
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.
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