Isolated glycogen storage disease of the heart
Isolated glycogen storage disease of the heart (PRKAG2 syndrome) is a form of glycogenosis, which is characterized by left ventricular hypertrophy, similar to the phenotype of hypertrophic cardiomyopathy, associated with pre-excitation of the ventricles and conduction disorders. The disease is cause...
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| Format: | Article |
| Language: | Russian |
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«FIRMA «SILICEA» LLC
2019-11-01
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| Series: | Российский кардиологический журнал |
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| Online Access: | https://russjcardiol.elpub.ru/jour/article/view/3386 |
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| author | S. M. Komissarova N. M. Rineiskaya N. N. Chakova S. S. Niyazova L. I. Plashchinskaya |
| author_facet | S. M. Komissarova N. M. Rineiskaya N. N. Chakova S. S. Niyazova L. I. Plashchinskaya |
| author_sort | S. M. Komissarova |
| collection | DOAJ |
| description | Isolated glycogen storage disease of the heart (PRKAG2 syndrome) is a form of glycogenosis, which is characterized by left ventricular hypertrophy, similar to the phenotype of hypertrophic cardiomyopathy, associated with pre-excitation of the ventricles and conduction disorders. The disease is caused by mutations in the gene PRKAG2 encoding for the 5’Adenosine Monophosphate-Activated Protein Kinase (AMPK), specifically for its y2 regulatory subunit, inheritance — autosomal dominant. A review of the literature data and clinical observation of two patients from the same family with the mutation c905C>A (p.Arg302Gln) in the PRKAG2 gene associated with WPW syndrome and early development of conduction disorders requiring implantation of a pacemaker are presented. The issues of diagnosis and treatment strategy of the disease were discussed. |
| format | Article |
| id | doaj-art-54689a00e8f94e66a8a9c92b7691df79 |
| institution | Matheson Library |
| issn | 1560-4071 2618-7620 |
| language | Russian |
| publishDate | 2019-11-01 |
| publisher | «FIRMA «SILICEA» LLC |
| record_format | Article |
| series | Российский кардиологический журнал |
| spelling | doaj-art-54689a00e8f94e66a8a9c92b7691df792025-08-04T13:00:21Zrus«FIRMA «SILICEA» LLCРоссийский кардиологический журнал1560-40712618-76202019-11-0101011011710.15829/1560-4071-2019-10-110-1172724Isolated glycogen storage disease of the heartS. M. Komissarova0N. M. Rineiskaya1N. N. Chakova2S. S. Niyazova3L. I. Plashchinskaya4Republican Scientific and Practical Center “Cardiology”Republican Scientific and Practical Center “Cardiology”Institute of Genetics and CytologyInstitute of Genetics and CytologyRepublican Scientific and Practical Center “Cardiology”Isolated glycogen storage disease of the heart (PRKAG2 syndrome) is a form of glycogenosis, which is characterized by left ventricular hypertrophy, similar to the phenotype of hypertrophic cardiomyopathy, associated with pre-excitation of the ventricles and conduction disorders. The disease is caused by mutations in the gene PRKAG2 encoding for the 5’Adenosine Monophosphate-Activated Protein Kinase (AMPK), specifically for its y2 regulatory subunit, inheritance — autosomal dominant. A review of the literature data and clinical observation of two patients from the same family with the mutation c905C>A (p.Arg302Gln) in the PRKAG2 gene associated with WPW syndrome and early development of conduction disorders requiring implantation of a pacemaker are presented. The issues of diagnosis and treatment strategy of the disease were discussed.https://russjcardiol.elpub.ru/jour/article/view/3386prkag2 syndromeisolated glycogen storage disease of the heartwpw syndromemutationsbinodal disease |
| spellingShingle | S. M. Komissarova N. M. Rineiskaya N. N. Chakova S. S. Niyazova L. I. Plashchinskaya Isolated glycogen storage disease of the heart Российский кардиологический журнал prkag2 syndrome isolated glycogen storage disease of the heart wpw syndrome mutations binodal disease |
| title | Isolated glycogen storage disease of the heart |
| title_full | Isolated glycogen storage disease of the heart |
| title_fullStr | Isolated glycogen storage disease of the heart |
| title_full_unstemmed | Isolated glycogen storage disease of the heart |
| title_short | Isolated glycogen storage disease of the heart |
| title_sort | isolated glycogen storage disease of the heart |
| topic | prkag2 syndrome isolated glycogen storage disease of the heart wpw syndrome mutations binodal disease |
| url | https://russjcardiol.elpub.ru/jour/article/view/3386 |
| work_keys_str_mv | AT smkomissarova isolatedglycogenstoragediseaseoftheheart AT nmrineiskaya isolatedglycogenstoragediseaseoftheheart AT nnchakova isolatedglycogenstoragediseaseoftheheart AT ssniyazova isolatedglycogenstoragediseaseoftheheart AT liplashchinskaya isolatedglycogenstoragediseaseoftheheart |