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A familial form of conduction defect related to a mutation in the PRKAG2 gene

Philippe Charron1, Marc Genest, Pascale Richard

  • 1Université Pierre et Marie Curie-Paris 6, Inserm UMR621, AP-HP, Hôpital Pitié-Salpêtrière, Département de Cardiologie, Paris, France. philippe.charron@psl.aphp.fr

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
|May 8, 2007
PubMed

Insights

A genetic mutation in the AMP activated protein kinase (PRKAG2) gene causes familial conduction defects with a unique ECG pattern. This finding expands the known PRKAG2 gene phenotype.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Familial conduction defects can arise from various genetic mutations.
  • The PRKAG2 gene has been previously linked to cardiac conditions, including Wolff-Parkinson-White syndrome and left ventricular hypertrophy.

Observation:

  • A family presented with a consistent electrocardiogram (ECG) pattern including right bundle branch block, left anterior hemiblock, atrial hypertrophy, and nodal dysfunction, alongside a short PR interval.
  • Clinical events were notably absent until after age 60 in affected family members.

Findings:

  • A mutation in the gamma2 subunit of the AMP activated protein kinase (PRKAG2) gene was identified in all affected family members, exhibiting autosomal dominant inheritance.
  • The observed phenotype differed from previously reported PRKAG2-associated conditions, lacking left ventricular hypertrophy and Wolff-Parkinson-White syndrome.

Implications:

  • This study expands the known clinical spectrum associated with PRKAG2 gene mutations.
  • The findings highlight PRKAG2 mutations as an additional cause of inherited cardiac conduction defects.

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