Key result
PRKAG2 mutation links to a fasciculoventricular pathway, suggesting broader involvement in cardiac conduction development.
Why the study?
Mutations in the PRKAG2 gene have been associated with AV accessory pathways, cardiac hypertrophy, and conduction abnormalities, but fasciculoventricular pathways have not been well described in this context.
Case Report (n=1)
This case report expands the known phenotypic spectrum of PRKAG2 mutations to include fasciculoventricular pathways, indicating broader involvement in cardiac conduction system development.
Case report is hypothesis-generating; leaves open broader PRKAG2 role in conduction system development.
Mutations in the PRKAG2 gene that regulates the gamma 2 subunit of the AMP-dependent protein kinase A have been associated with the development of AV accessory pathways, cardiac hypertrophy, and conduction system abnormalities. The accessory pathways described in PRKAG2 disease have mostly been AV bypass tracts, as mutations in the PRKAG2 gene disrupt the normal AV junction development. There have also been a few reports of nodoventricular tracts associated with PRKAG2 mutations, as these tracts also involve the AV junction. We describe a case of a fasciculoventricular pathway with PRKAG2 mutation suggesting a more widespread involvement of the PRKAG2 gene in the development of the cardiac conduction system.
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Govindan et al. (2009) conducted a case report in PRKAG2 disease with fasciculoventricular pathway (n=1). PRKAG2 mutation was evaluated on Presence of fasciculoventricular pathway. A PRKAG2 mutation was identified in a patient with a fasciculoventricular pathway, suggesting a more widespread involvement of the PRKAG2 gene in cardiac conduction system development.
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