A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations
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...
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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2019/7640140 |
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| author | Anita Sri Piers Daubeney Sanjay Prasad John Baksi Maria Kinali Inga Voges |
| author_facet | Anita Sri Piers Daubeney Sanjay Prasad John Baksi Maria Kinali Inga Voges |
| author_sort | Anita Sri |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-3d81b2ea40df4626b1219213269d4b48 |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-3d81b2ea40df4626b1219213269d4b482025-02-03T01:12:20ZengWileyCase Reports in Pediatrics2090-68032090-68112019-01-01201910.1155/2019/76401407640140A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 MutationsAnita Sri0Piers Daubeney1Sanjay Prasad2John Baksi3Maria Kinali4Inga Voges5Imperial College London, South Kensington Campus, London SW7 2AZ, UKImperial College London, South Kensington Campus, London SW7 2AZ, UKImperial College London, South Kensington Campus, London SW7 2AZ, UKRoyal Brompton and Harefield NHS Foundation Trust, Sydney Street, London SW3 6NP, UKRoyal Brompton and Harefield NHS Foundation Trust, Sydney Street, London SW3 6NP, UKRoyal Brompton and Harefield NHS Foundation Trust, Sydney Street, London SW3 6NP, UKBackground. 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.http://dx.doi.org/10.1155/2019/7640140 |
| spellingShingle | Anita Sri Piers Daubeney Sanjay Prasad John Baksi Maria Kinali Inga Voges A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations Case Reports in Pediatrics |
| title | A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations |
| title_full | A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations |
| title_fullStr | A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations |
| title_full_unstemmed | A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations |
| title_short | A Case Series on Cardiac and Skeletal Involvement in Two Families with PRKAG2 Mutations |
| title_sort | case series on cardiac and skeletal involvement in two families with prkag2 mutations |
| url | http://dx.doi.org/10.1155/2019/7640140 |
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