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”perinatology-187Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWSБолезнь Данона как причина гипертрофической кардиомиопатииDanon’s disease as a cause of hypertrophic cardiomyopathyЛеонтьеваИ. В.LeontyevaI. V.

д.м.н., проф., гл.н.с. патологии сердечно-сосудистой системы

ЦарегородцевД. А.TsaregorodtsevD. A.

к.м.н., доц. кафедры факультетской терапии №1 лечебного факультета

Научно-исследовательский клинический институт педиатрии ГБОУ ВПО «Российский национальный исследовательский медицинский университет им. Н.И. Пирогова», МоскваРоссияResearch Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical University, MoscowRussian FederationГБОУ ВПО «Первый медицинский университет им. И.М. Сеченова», МоскваРоссияI.M. Sechenov First Moscow Medical University, MoscowRussian Federation2015140320166032630Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20162016Ltd. “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/187

Гипертрофическая кардиомиопатия — наиболее частое наследственное заболевание сердечной мышцы. Причины заболевания гетерогенны, первичная форма возникает вследствие мутаций генов, кодирующих белки сердечного саркомера, вторичные формы (метаболические и синдромальные) развиваются при мутациях генов, кодирующих белки несаркомерного комплекса. Наиболее частой среди метаболических причин гипертрофической кардиомиопатии служат гликогенозы. Болезнь Данона (LAMP2-кардиомиопатия) является одной из форм гликогеноза и характеризуется типичной триадой: гипертрофическая кардиомиопатия, умственная отсталость и скелетная миопатия. Заболевание возникает при мутации гена лизосомассоциированного мембранного протеина (LAMP2), наследование — сцепленное с хромосомой X, доминантное. По клиническим проявлениям LAMP2-кардиомиопатия практически не отличается от тяжелой формы гипертрофической кардиомиопатии, развивающейся вследствие мутаций генов белков саркомерного комплекса. Заболевание характеризуется неблагоприятным проградиентным течением с высокой вероятностью внезапной смерти или прогрессирования тяжелой сердечной недостаточности. Основным методом профилактики возникновения внезапной сердечной смерти является имплантация кардиовертера дефибриллятора. 

Hypertrophic cardiomyopathy is the most common inherited disease of the myocardium. The causes of the disease are heterogeneous; its primary form results from mutations in the genes encoding cardiac sarcomeric proteins; its secondary (metabolic and syndromic) forms develop due to mutations in the genes encoding non-sarcomeric proteins. Glycogenosis is the most common cause of the metabolic ones of hypertrophic cardiomyopathy. Danon’s disease (lysosome-associated membrane protein 2 (LAMP2-cardiomyopathy) is a form of glycogenosis and it is characterized by a typical triad: hypertrophic cardiomyopathy, mental retardation, and skeletal myopathy. The disease occurs with mutations in the LAMP2 gene; X-linked dominant inheritance. LAMP2-cardiomyopathy does not virtually differ in its clinical manifestations from the severe form of hypertrophic cardiomyopathy, which results from mutations in the sarcomeric protein genes. The disease is characterized by a poor progressive course with the high probability of causing sudden death or with the progression of severe heart failure. Implantation of a cardioverter defibrillator is a main method to prevent sudden cardiac death. 

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