title: A familial form of conduction defect related to a mutation in the PRKAG2 gene.
abstract: We describe four members of the same family with a very similar ECG pattern characterized by conduction defects (right bundle branch block, frequent left anterior hemiblock, atrial hypertrophy, and sometimes severe nodal dysfunction) contrasting with a short PR interval. Significant clinical events were reported only after 60 years of age. A mutation in the gamma2 subunit of the AMP activated protein kinase gene (PRKAG2) was identified in the four members of the family, with an autosomal dominant inheritance. The phenotype observed in this family appears different from that previously described as associated with this gene as neither left ventricular hypertrophy nor Wolff-Parkinson-White syndrome was present. These findings extend the phenotype associated with the PRKAG2 gene and emphasize an additional cause of familial conduction defect.
authors.affiliation: Université Pierre et Marie Curie-Paris 6, Inserm UMR621, AP-HP, Hôpital Pitié-Salpêtrière, Département de Cardiologie, Paris, France. philippe.charron@psl.aphp.fr
authors.forename: Philippe
authors.initials: P
authors.lastname: Charron
authors.forename: Marc
authors.initials: M
authors.lastname: Genest
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Michel
authors.initials: M
authors.lastname: Komajda
authors.forename: Gilbert
authors.initials: G
authors.lastname: Pochmalicki
mesh_terms: D055372:AMP-Activated Protein Kinases; D000328:Adult; D000368:Aged; D001145:Arrhythmias, Cardiac / Q000145:classification* / Q000151:congenital / Q000175:diagnosis / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009097:Multienzyme Complexes / Q000235:genetics*; D009154:Mutation; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
chemical_list: D009097:Multienzyme Complexes; D017346:Protein Serine-Threonine Kinases; D055372:AMP-Activated Protein Kinases