title: PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis.
abstract: 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.
authors.affiliation: Department of Pediatric Medical Education, Miami Children's Hospital, Miami, Florida, United States.
authors.forename: Varun
authors.initials: V
authors.lastname: Aggarwal
authors.affiliation: Department of Pediatric Cardiology, Miami Children's Hospital, Miami, Florida, United States.
authors.forename: Nancy
authors.initials: N
authors.lastname: Dobrolet
authors.affiliation: Department of Pediatric Cardiology, Miami Children's Hospital, Miami, Florida, United States.
authors.forename: Steven
authors.initials: S
authors.lastname: Fishberger
authors.affiliation: Department of Pediatric Medical Education, Miami Children's Hospital, Miami, Florida, United States.
authors.forename: Jenny
authors.initials: J
authors.lastname: Zablah
authors.affiliation: Department of Medical Genetics, Miami Children's Hospital, Miami, Florida, United States.
authors.forename: Parul
authors.initials: P
authors.lastname: Jayakar
authors.affiliation: Department of Medical Genetics, Miami Children's Hospital, Miami, Florida, United States.
authors.forename: Zineb
authors.initials: Z
authors.lastname: Ammous
keywords: Arrhythmia; PRKAG 2 mutation; WPW syndrome; hypertrophic cardiomyopathy