perinatologyРоссийский вестник перинатологии и педиатрииRossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics)1027-40652500-2228Ltd. “The National Academy of Pediatric Science and Innovation”10.21508/1027-4065-2022-67-3-111-116perinatology-1661Research ArticleВ ПОМОЩЬ ПРАКТИЧЕСКОМУ ВРАЧУFOR THE PRACTITIONERPRKAG2-ассоциированная гипертрофическая кардиомиопатияPRKAG2-associated hypertrophic cardiomyopathyhttps://orcid.org/0000-0002-5273-6859ЛеонтьеваИ. В.LeontyevaI. V.

Леонтьева Ирина Викторовна — д.м.н., проф., гл. науч. сотр. отдела детской кардиологии и аритмологии 125412 Москва, ул. Талдомская, д. 2 

 Moscow 

ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ФГБОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияVeltischev Research and Clinical Institute for Pediatrics of the Pirogov Russian National Research Medical UniversityRussian Federation202211082022673111116Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20222022Ltd. “The National Academy of Pediatric Science and Innovation”Ltd. “The National Academy of Pediatric Science and Innovation”https://www.ped-perinatology.ru/jour/about/submissions#copyrightNoticehttps://www.ped-perinatology.ru/jour/article/view/1661

Мутации в гене PRKAG2 приводят к возникновению гипертрофической кардиомиопатии в сочетании с синдромом Вольфа– Паркинсона–Уайта. Причиной поражения сердца служит отложение гликогена в миокарде и проводящей системе сердца при нарушении метаболизма аденозинмонофосфат-активированной протеинкиназы. Особенностями PRKAG2-ассоциированной гипертрофической кардиомиопатии являются прогрессирующие нарушения проводимости c развитием атриовентрикулярной блокады и пароксизмальной суправентрикулярной тахикардии на фоне дополнительных предсердно-желудочковых сообщений (синдром Вольфа–Паркинсона–Уайта). Характерны прогрессирующая сердечная недостаточность, высокая частота внезапной сердечной смерти в молодом возрасте. Рассмотрены особенности диагностики и лечения.

Mutations in the PRKAG2 gene lead to hypertrophic cardiomyopathy in combination with Wolff—Parkinson—White syndrome. The cause of the development of heart damage is the deposition of glycogen in the myocardium and the conduction system of the heart with a violation of the metabolism of adenosine monophosphate-activated protein kinase. A feature of PRKAG2 hypertrophic cardiomyopathy is progressive conduction disturbances with the development of atrioventricular blockade and ventricular preexcitation syndrome with a high frequency of paroxysmal supraventricular tachycardia against the background of additional atrioventricular fenestrations (Wolff—Parkinson—White syndrome). Progressive heart failure, high frequency of sudden cardiac death at a young age are characteristic. The features of diagnosis and treatment are considered.

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The authors declare that there are no conflicts of interest present.