Europace Advance Access originally published online on May 4, 2007
Europace 2007 9(8):597-600; doi:10.1093/europace/eum071
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BASIC SCIENCE
A familial form of conduction defect related to a mutation in the PRKAG2 gene
1 Université Pierre et Marie Curie-Paris 6; Inserm UMR621; AP-HP, Hôpital Pitié-Salpêtrière, Département de Cardiologie, Paris, France; 2 Service de Cardiologie, Hôpital Léon Binet, Provins, France; 3 Fédération de Génétique, UF Cardiogénétique, Hôpital Pitié-Salpêtrière, Paris, France
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 
2 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.
Key Words: Conduction defect, PRKAG2 gene, Preexcitation, AMP activated protein kinase
* Corresponding author. Tel: +33 1 42 16 28 98 fax: +33 1 42 16 30 26. E-mail address: philippe.charron{at}psl.aphp.fr
Manuscript submitted 27 November 2006. Accepted after revision 19 March 2007.