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Full-Text Articles in Medicine and Health Sciences
Prkag2 Mutation: An Easily Missed Cardiac Specific Non-Lysosomal Glycogenosis, V. Aggarwal, N. Dobrolet, S. Fishberger, J. Zablah, P. Jayakar, Z. Ammous
Prkag2 Mutation: An Easily Missed Cardiac Specific Non-Lysosomal Glycogenosis, V. Aggarwal, N. Dobrolet, S. Fishberger, J. Zablah, P. Jayakar, Z. Ammous
Journal Articles
Mutations in PRKAG2 gene that regulates the gamma2 subunit of the adenosine monophosphate (AMP) dependent protein kinase have been associated with the development of atrioventricular (AV) accessory pathways, cardiac hypertrophy, and conduction system abnormalities. These patients can potentially be misdiagnosed as hypertrophic cardiomyopathy (HOCM) and/or Wolf-Parkinson White (WPW) syndrome due to similar clinical phenotype. Early recognition of this disease entity is very important as ablation of suspected accessory pathways is not effective and the natural history of the disease is very different from HOCM and WPW syndrome.