PRKAG2 mutation: An easily missed cardiac specific non-lysosomal glycogenosis

Varun Aggarwal, Nancy Dobrolet, Steven Fishberger, Jenny Zablah, Parul Jayakar, Zineb Ammous

Research output: Contribution to journalArticlepeer-review

7 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)153-156
Number of pages4
JournalAnnals of Pediatric Cardiology
Volume8
Issue number2
DOIs
StatePublished - May 1 2015
Externally publishedYes

Keywords

  • Arrhythmia
  • PRKAG 2 mutation
  • WPW syndrome
  • hypertrophic cardiomyopathy

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