A case series on cardiac and skeletal involvement in two families with PRKAG2 mutations

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Title: A case series on cardiac and skeletal involvement in two families with PRKAG2 mutations
Authors: Sri, A
Daubeney, P
Prasad, S
Baksi, J
Kinali, M
Voges, I
Item Type: Journal Article
Abstract: 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.
Issue Date: 1-Jan-2019
Date of Acceptance: 25-Feb-2019
URI: http://hdl.handle.net/10044/1/70429
DOI: https://dx.doi.org/10.1155/2019/7640140
ISSN: 2090-6803
Publisher: Hindawi Publishing Corporation
Journal / Book Title: Case Reports in Pediatrics
Volume: 2019
Copyright Statement: © 2019 Anita Sri et al.,is is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited (https://creativecommons.org/licenses/by/4.0/).
Keywords: Science & Technology
Life Sciences & Biomedicine
Science & Technology
Life Sciences & Biomedicine
Publication Status: Published
Article Number: ARTN 7640140
Online Publication Date: 2019-03-26
Appears in Collections:National Heart and Lung Institute
Department of Medicine

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