High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.

doi:10.1093/europace/euw067

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Article

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.

Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology - 1 Apr 2017

Thevenon Julien, Laurent Gabriel, Ader Flavie, Laforêt Pascal, Klug Didier, Duva Pentiah Anju, Gouya Laurent, Maurage Claude Alain, Kacet Salem, Eicher Jean-Christophe, Albuisson Juliette, Desnos Michel, Bieth Eric, Duboc Denis, Martin Laurent, Réant Patricia, Picard François, Bonithon-Kopp Claire, Gautier Elodie, Binquet Christine, Thauvin-Robinet Christel, Faivre Laurence, Bouvagnet Patrice, Charron Philippe, Richard Pascale

Abstract excerpt

AIMS: Mutations in PRKAG2, the gene encoding for the γ2 subunit of 5'-AMP-activated protein kinase (AMPK), are responsible for an autosomal dominant glycogenosis with a cardiac presentation, associating hypertrophic cardiomyopathy (HCM), ventricular pre-excitation (VPE), and progressive heart block. The aim of this study was to perform a retrospective time-to-event study of the clinical manifestations associated...

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Identifiers

PMID: 28431061
DOI: 10.1093/europace/euw067

Genes

PRKAG2
SCD

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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