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”10.21508/1027-4065-2023-68-3-83-91perinatology-1830Research ArticleКЛИНИЧЕСКИЕ СЛУЧАИCLINICAL CASESОсобенности поражения сердечно-сосудистой системы при поздней форме болезни ПомпеCardiovascular system damage in the late-onset Pompe diseasehttps://orcid.org/0000-0002-5273-6859ЛеонтьеваИ. В.LeontievaI. V.

Леонтьева Ирина Викторовна - д.м.н., проф., гл. науч. сотр. отдела детской кардиологии и аритмологии

125412 Москва, ул. Талдомская, д. 2

Moscow

https://orcid.org/0000-0002-6899-6284ИсаеваЮ. С.IsaevaYu. S.

Исаева Юлия Сергеевна - врач детского кардиологического отделения

125412 Москва, ул. Талдомская, д. 2

Moscow

isaeva@pedklin.ruhttps://orcid.org/0000-0001-8635-6216МиклашевичИ. М.MiklashevichI. M.

Миклашевич Ирина Михайловна - к.м.н., зав. детским кардиологическим отделением

125412 Москва, ул. Талдомская, д. 2

Moscow

https://orcid.org/0000-0003-2466-7865ТермосесовС. А.ThermosesovS. A.

Термосесов Сергей Артурович - зав. отделением хирургического лечения сложных нарушений ритма сердца и электрокардиостимуляции

125412 Москва, ул. Талдомская, д. 2

Moscow

ОСП «Научно-исследовательский клинический институт педиатрии и детской хирургии им. академика Ю.Е. Вельтищева» ФГАОУ ВО РНИМУ им. Н.И. Пирогова Минздрава РоссииРоссияVeltischev Research and Clinical Institute for Pediatrics and Pediatric Surgery of the Pirogov Russian National Research Medical UniversityRussian Federation2023150720236838391Copyright © Ltd. “The National Academy of Pediatric Science and Innovation”, 20232023Ltd. “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/1830

В статье представлен клинический случай метаболической гипертрофической кардиомиопатии у пациента с поздней формой болезни Помпе, иллюстрирующий сложности дифференциально-диагностического поиска причины заболевания. Освещены клинические, лабораторные и генетические аспекты диагностики болезни Помпе. Обсуждаются особенности лабораторной диагностики, сложный путь к правильному диагнозу и назначению ферментозамещающей терапии. Большое внимание уделено клинической симптоматике заболевания — наиболее значимо поражение сердечно-сосудистой системы, отсутствует поражение опорно-двигательного аппарата. Клиническая картина поздней формы болезни Помпе представлена особенностями нарушения ритма сердца и проводимости: синдром предвозбуждения желудочков (множественные дополнительные предсердно-желудочковые сообщения), неустойчивая желудочковая тахикардия, наджелудочковая тахикардия, синдром слабости синусного узла. Рассмотрены подходы к профилактике внезапной сердечной смерти: пациенту проведено хирургическое лечение: радиочастотная аблация, имплантация кардиовертера-дефибриллятора. Начата патогенетическая терапия болезни Помпе.

The article presents a clinical case of metabolic hypertrophic cardiomyopathy against the background of a late-onset form of Pompe disease, illustrating the difficulties of differential diagnostic search for the cause of the disease. The clinical, laboratory and genetic aspects of the diagnosis of Pompe disease are highlighted. The features of laboratory diagnostics, the difficult path to the correct diagnosis and the appointment of enzyme replacement therapy are discussed. Much attention is paid to the clinical symptoms of the disease — the most significant damage to the cardiovascular system, there is no damage to the musculoskeletal sphere. Clinical picture of late Pompe disease is presented: cardiac rhythm and conduction disorders (ventricular preexcitation syndrome — multiple additional atrioventricular fenestrations), unstable ventricular tachycardia, supraventricular tachycardia, sinus node weakness syndrome. Considered approaches to the prevention of sudden cardiac death the patient underwent surgical treatment: radiofrequency ablation, endocardial implantation of a cardioverter defibrillator. Pathogenetic therapy for Pompe disease has been started.

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