医学
错义突变
心脏病学
内科学
病态窦房结综合征
窦性心动过缓
PR间隔
心肌病
心动过缓
突变
遗传学
心力衰竭
基因
心率
血压
生物
作者
Eduardo Back Sternick,Antonio Oliva,Luiz Pereira de Magalhães,Luíz Márcio Gerken,Kui Hong,Oto Santana,Pedro Brugada,Josép Brugada,Ramón Brugada
标识
DOI:10.1111/j.1540-8167.2006.00485.x
摘要
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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