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Glycogen storage disease: PRKAG2 syndrome
L. A. Gandaeva,
O. B. Kondakova,
E. N. Basargina,
A. A. Pushkov,
N. N. Koloskova,
O. P. Zharova,
V. I. Barsky,
A. P. Fisenko,
K. V. Savostyanov https://doi.org/10.21508/1027-4065-2022-67-2-132-141
Abstract
PRKAG2 syndrome is a rare genetic disease that isinherited in an autosomal dominant fashion and is caused by mutationsin the PRKAG2 gene. Clinical symptoms include early onset, ventricular preexcitation, cardiac hypertrophy, and progressive atrioventricular block. The PRKAG2 syndrome is characterized by genetic heterogeneity, which makes early detection difficult; genophenotypic correlations have been documented. In this article, we provide an overview of the literature data and experience from the cardiology department of the National Medical Research Center for Children’s Health of the Russian Ministry of Health in the diagnosis and management of patients with PRKAG2 syndrome, and present the clinical and genetic characteristics of the p.R302Q and p.H383R variants of the PRKAG2 gene.
About the Authors
L. A. Gandaeva
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
O. B. Kondakova
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
E. N. Basargina
National Medical Research Center for Children’s Health; Filatov Clinical Institute of Children’s Health of the Sechenov First Moscow State Medical University
Russian Federation
Russian Federation
Moscow
A. A. Pushkov
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
N. N. Koloskova
V.I. Shumakov Federal Research Center of Transplantology and Artificial Organs
Russian Federation
Russian Federation
Moscow
O. P. Zharova
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
V. I. Barsky
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
A. P. Fisenko
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
K. V. Savostyanov
National Medical Research Center for Children’s Health
Russian Federation
Russian Federation
Moscow
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Review
For citations:
Gandaeva L.A., Kondakova O.B., Basargina E.N., Pushkov A.A., Koloskova N.N., Zharova O.P., Barsky V.I., Fisenko A.P., Savostyanov K.V. Glycogen storage disease: PRKAG2 syndrome. Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics). 2022;67(2):132-141. (In Russ.) https://doi.org/10.21508/1027-4065-2022-67-2-132-141
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