Imperial College London

DrPiersDaubeney

Faculty of MedicineNational Heart & Lung Institute

Professor of Practice (Paediatric Cardiology)
 
 
 
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Contact

 

+44 (0)20 7351 8430p.daubeney

 
 
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Location

 

Royal BromptonRoyal Brompton Campus

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Summary

 

Publications

Citation

BibTex format

@article{Sri:2019/7640140,
author = {Sri, A and Daubeney, P and Prasad, S and Baksi, J and Kinali, M and Voges, I},
doi = {2019/7640140},
journal = {Case Reports in Pediatrics},
title = {A case series on cardiac and skeletal involvement in two families with PRKAG2 mutations},
url = {http://dx.doi.org/10.1155/2019/7640140},
volume = {2019},
}

RIS format (EndNote, RefMan)

TY  - JOUR
AB - Background. PRKAG2 is a rare autosomal dominant syndrome that mainly presents with hypertrophic cardiomyopathy, ventricular preexcitation, and conduction abnormalities. This case report demonstrates that the PRKAG2 mutation presents with various phenotypes already in pediatric patients. Case Summary. We describe the clinical and investigative findings in two families with a PRKAG2 mutation from the different variants in the gene on chromosome 7q36.1, emphasising that the variability of phenotypes and that presentation in childhood is common. Furthermore, we highlight that skeletal myopathy and hypertrophic cardiomyopathy are significant debilitating characteristics of the PRKAG2 mutation. Conclusion. In our report of adult and pediatric patients, early presentation in childhood with hypertrophic cardiomyopathy and skeletal muscle involvement was common, demonstrating the challenges of the clinical management of PRKAG2 mutations.
AU - Sri,A
AU - Daubeney,P
AU - Prasad,S
AU - Baksi,J
AU - Kinali,M
AU - Voges,I
DO - 2019/7640140
SN - 2090-6803
TI - A case series on cardiac and skeletal involvement in two families with PRKAG2 mutations
T2 - Case Reports in Pediatrics
UR - http://dx.doi.org/10.1155/2019/7640140
UR - http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000464708300001&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=1ba7043ffcc86c417c072aa74d649202
UR - http://hdl.handle.net/10044/1/70429
VL - 2019
ER -