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”10.21508/1027-4065-2016-61-2-17-27perinatology-297Research ArticleОБЗОР ЛИТЕРАТУРЫREVIEWSКардиомиопатии при врожденных нарушениях метаболизма у детейCardiomyopathies in children with inborn errors of metabolismЛеонтьеваИ. В.LeontyevaI. V.

д.м.н., проф., гл.н.сотр. отдела кардиологии и аритмологии,

125412 Москва, ул. Талдомская, д.2

НиколаеваЕ. А.NikolaevaE. A.

д.м.н., и.о. рук.отдела психоневрологии и наследственных заболеваний с нарушением психики,

125412 Москва, ул. Талдомская, д.2

ОСП «Научно-исследовательский клинический институт педиатрии им. академика Ю.Е. Вельтищева» ГБОУ ВПО РНИМУ им. Н.И. Пирогова Минздрава РФРоссияAcademician Yu.E. Veltishchev Research Clinical Institute of Pediatrics, N.I. Pirogov Russian National Research Medical UniversityRussian Federation2016260420166121727Copyright © 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/297

Представлен анализ литературы последних лет, посвященной кардиомиопатиям, развивающимся при наследственных дефектах обмена веществ. Рассмотрены кардиомиопатии как тяжелое проявление первичного дефицита карнитина, дефектов транспорта и β-окисления жирных кислот, органических ацидемий, лизосомных болезней (в том числе болезни Помпе, болезни Данона и др.). Обращено внимание на критерии диагностики указанных заболеваний и возможности лечения.

The paper analyzes the recent literature on cardiomyopathies developing in inborn errors of metabolism. It considers cardiomyopathies as a severe manifestation of primary carnitine deficiency, fatty acid transport and β-oxidation defects, organic acidemias, and lysosomal diseases (including Pompe disease, Danon disease, etc.). Attention is given to diagnostic criteria for the above diseases and to the possibilities of treatment.

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