Key result
PRKAG2 mutations linked to hypertrophy and conduction abnormalities that frequently mimic HOCM or WPW.
Why the study?
Mutations in PRKAG2 gene cause cardiac manifestations that can be misdiagnosed as hypertrophic cardiomyopathy or WPW syndrome due to similar clinical phenotypes.
Early recognition of PRKAG2 mutation is crucial to avoid ineffective ablation and misdiagnosis as hypertrophic cardiomyopathy or Wolf-Parkinson White syndrome.
May prompt genetic testing in atypical HOCM/WPW; leaves open optimal management strategies for PRKAG2 cardiomyopathy.
Mutations in PRKAG2 gene that regulates the γ2 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.
No takes yet. Share an insight, caveat, or question.
Aggarwal et al. (2015) conducted a review in PRKAG2 mutation. PRKAG2 mutation was evaluated. Mutations in the PRKAG2 gene are associated with atrioventricular accessory pathways, cardiac hypertrophy, and conduction system abnormalities, which can be misdiagnosed as HOCM or WPW syndrome.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: