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

Varun Aggarwal1, Nancy Dobrolet2, Steven Fishberger2, Jenny Zablah1, Parul Jayakar3, Zineb Ammous3
1 Department of Pediatric Medical Education, Miami Children's Hospital, Miami, Florida, United States
2 Department of Pediatric Cardiology, Miami Children's Hospital, Miami, Florida, United States
3 Department of Medical Genetics, Miami Children's Hospital, Miami, Florida, United States

Correspondence Address:
Varun Aggarwal
Department of Medical Education, Miami Children's Hospital, 3100 SW 62nd Avenue, Miami, Florida-33155
United States
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-2069.154149

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Year : 2015  |  Volume : 8  |  Issue : 2  |  Page : 153-156

 
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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.






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 © 2008 Annals of Pediatric Cardiology | Published by Wolters Kluwer - Medknow
 Online since 20th April, 2008

 

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Varun Aggarwal1, Nancy Dobrolet2, Steven Fishberger2, Jenny Zablah1, Parul Jayakar3, Zineb Ammous3
1 Department of Pediatric Medical Education, Miami Children's Hospital, Miami, Florida, United States
2 Department of Pediatric Cardiology, Miami Children's Hospital, Miami, Florida, United States
3 Department of Medical Genetics, Miami Children's Hospital, Miami, Florida, United States

Correspondence Address:
Varun Aggarwal
Department of Medical Education, Miami Children's Hospital, 3100 SW 62nd Avenue, Miami, Florida-33155
United States
Login to access the Email id

Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0974-2069.154149

Rights and Permissions

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.






[FULL TEXT] [PDF]*


        
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 Whats new | Sitemap | Feedback | Copyright and Disclaimer
 © 2008 Annals of Pediatric Cardiology | Published by Wolters Kluwer - Medknow
 Online since 20th April, 2008