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Familial Pseudo‐Wolff‐Parkinson‐White Syndrome
Author(s) -
STERNICK EDUARDO BACK,
OLIVA ANTONIO,
MAGALHÃES LUIZ P.,
GERKEN LUIZ M.,
HONG KUI,
SANTANA OTO,
BRUGADA PEDRO,
BRUGADA JOSEP,
BRUGADA RAMON
Publication year - 2006
Publication title -
journal of cardiovascular electrophysiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.193
H-Index - 138
eISSN - 1540-8167
pISSN - 1045-3873
DOI - 10.1111/j.1540-8167.2006.00485.x
Subject(s) - medicine , missense mutation , cardiology , sick sinus syndrome , sinus bradycardia , pr interval , cardiomyopathy , bradycardia , mutation , genetics , heart failure , gene , heart rate , blood pressure , biology
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.