{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,23]],"date-time":"2026-02-23T20:59:21Z","timestamp":1771880361457,"version":"3.50.1"},"reference-count":22,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2006,3,31]],"date-time":"2006-03-31T00:00:00Z","timestamp":1143763200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Cardiovasc electrophysiol"],"published-print":{"date-parts":[[2006,7]]},"abstract":"<jats:p> <jats:italic>Introduction:<\/jats:italic> 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\u2010pathologic and experimental data suggest the hypothesis of a glycogen storage disease.<\/jats:p><jats:p> <jats:italic>Objective:<\/jats:italic> To report a unique pattern of clinical features observed in individuals with a mutant PRKAG2 from two unrelated families.<\/jats:p><jats:p> <jats:italic>Methods and Results:<\/jats:italic> 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\u2010Parkinson\u2010White (WPW) syndrome, and only two patients (10%) had myocardial hypertrophy. We performed screening of the exons and exon\u2010intron 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.<\/jats:p><jats:p> <jats:italic>Conclusion:<\/jats:italic> 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.<\/jats:p>","DOI":"10.1111\/j.1540-8167.2006.00485.x","type":"journal-article","created":{"date-parts":[[2006,3,31]],"date-time":"2006-03-31T14:21:34Z","timestamp":1143814894000},"page":"724-732","source":"Crossref","is-referenced-by-count":45,"title":["Familial Pseudo\u2010Wolff\u2010Parkinson\u2010White Syndrome"],"prefix":"10.1111","volume":"17","author":[{"given":"EDUARDO BACK","family":"STERNICK","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"ANTONIO","family":"OLIVA","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LUIZ P.","family":"MAGALH\u00c3ES","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"LUIZ 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