Isolated glycogen storage disease of the heart
https://doi.org/10.15829/1560-4071-2019-10-110-117
Abstract
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.
About the Authors
S. M. Komissarova
Republican Scientific and Practical Center “Cardiology”
Belarus
Competing Interests: not
Belarus
Minsk
Competing Interests: not
N. M. Rineiskaya
Republican Scientific and Practical Center “Cardiology”
Belarus
Competing Interests: not
Belarus
Minsk
Competing Interests: not
N. N. Chakova
Institute of Genetics and Cytology
Belarus
Competing Interests: not
Belarus
Minsk
Competing Interests: not
S. S. Niyazova
Institute of Genetics and Cytology
Belarus
Competing Interests: not
Belarus
Minsk
Competing Interests: not
L. I. Plashchinskaya
Republican Scientific and Practical Center “Cardiology”
Belarus
Competing Interests: not
Belarus
Minsk
Competing Interests: not
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Review
For citations:
Komissarova S.M., Rineiskaya N.M., Chakova N.N., Niyazova S.S., Plashchinskaya L.I. Isolated glycogen storage disease of the heart. Russian Journal of Cardiology. 2019;(10):110-117. (In Russ.) https://doi.org/10.15829/1560-4071-2019-10-110-117
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