Journal Article

A familial form of conduction defect related to a mutation in the <i>PRKAG2</i> gene

Philippe Charron, Marc Genest, Pascale Richard, Michel Komajda and Gilbert Pochmalicki

in EP Europace

Published on behalf of European Heart Rhythm Association of the European Society of Cardiology (ESC)

Volume 9, issue 8, pages 597-600
Published in print August 2007 | ISSN: 1099-5129
Published online May 2007 | e-ISSN: 1532-2092 | DOI:
A familial form of conduction defect related to a mutation in the PRKAG2 gene

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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 γ2 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.

Keywords: Conduction defect; PRKAG2 gene; Preexcitation; AMP activated protein kinase

Journal Article.  1592 words.  Illustrated.

Subjects: Cardiovascular Medicine

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