vspВопросы современной педиатрииCurrent Pediatrics1682-55271682-5535Издательство «ПедиатрЪ»10.15690/vsp.v17i2.1883vsp-1886Research ArticleКЛИНИЧЕСКОЕ НАБЛЮДЕНИЕCLINICAL OBSERVATIONSАКТУАЛЬНОСТЬ ГЕНЕТИЧЕСКОЙ ВЕРИФИКАЦИИ НЕКОМПАКТНОЙ КАРДИОМИОПАТИИ У ДЕТЕЙ: КЛИНИЧЕСКИЕ СЛУЧАИTHE URGENCY OF GENETIC VERIFICATION OF NON-COMPACTION CARDIOMYOPATHY IN CHILDREN: CLINICAL CASEShttps://orcid.org/0000-0002-5313-1237СдвиговаН. А.SdvigovaNataliya A.

Сдвигова Наталия Андреевна - аспирант кардиологического отделения НМИЦ здоровья детей, врач-педиатр, детский кардиолог.

119991, Москва, Ломоносовский проспект, д. 2, стр. 1,  тел.: +7 (499) 134-04-90

Moscow

sdvigova-natalya@yandex.ruhttps://orcid.org/0000-0002-0144-2885БасаргинаЕ. Н.BasarginaElena N.

Москва

Moscow

https://orcid.org/0000-0002-0548-5639РябцевД. В.RyabtsevDmitry V.

Москва

Moscow

https://orcid.org/0000-0003-4885-4171СавостьяновК. В.SavostyanovKirill V.

Москва

Moscow

https://orcid.org/0000-0001-6648-2063ПушковА. А.PushkovAlexander A.

Москва

Moscow

https://orcid.org/0000-0001-6614-6115ЖурковаН. В.ZhurkovaNatalia V.

Москва

Moscow

https://orcid.org/0000-0001-7834-213XРевуненковГ. В.RevunenkovGrigory V.

Москва

Moscow

https://orcid.org/0000-0003-4221-8406ЖароваО. П.ZharovaOlga P.

Москва

Moscow

Национальный медицинский исследовательский центр здоровья детейРоссияNational Medical Research Center of Children’s HealthRussian Federation201823052018172157165Copyright © Сдвигова Н.А., Басаргина Е.Н., Рябцев Д.В., Савостьянов К.В., Пушков А.А., Журкова Н.В., Ревуненков Г.В., Жарова О.П., 20182018Сдвигова Н.А., Басаргина Е.Н., Рябцев Д.В., Савостьянов К.В., Пушков А.А., Журкова Н.В., Ревуненков Г.В., Жарова О.П.Sdvigova N.A., Basargina E.N., Ryabtsev D.V., Savostyanov K.V., Pushkov A.A., Zhurkova N.V., Revunenkov G.V., Zharova O.P.Данная работа распространяется под лицензией Creative Commons Attribution 4.0.This work is licensed under a Creative Commons Attribution 4.0 License.https://vsp.spr-journal.ru/jour/article/view/1886Обоснование

Обоснование. Некомпактная кардиомиопатия — группа генетически гетерогенных, малоизученных заболеваний миокарда с разнообразными клиническими проявлениями (от бессимптомного течения до прогрессирующей систолической дисфункции с симптомами хронической сердечной недостаточности, аритмиями и тромбоэмболическими осложнениями). Учитывая многообразие генетических нарушений, ассоциированных с развитием некомпактной кардиомиопатии, важна генетическая верификация диагноза для определения прогноза и проведения полноценного медико-генетического консультирования семей, в которых имеются случаи заболевания.

Описание клинического случая. В статье представлены два клинических наблюдения тяжелого течения некомпактной кардиомиопатии с ремоделированием полостей сердца по дилатационному фенотипу. С целью уточнения этиологии заболевания проведено молекулярно-генетическое исследование методом прямого автоматического секвенирования с анализом таргетных областей 404 генов, мутации в которых описаны при наследственных заболеваниях сердца и сосудов. После верификации мутации (в генах ACTC1 и MYBPC3) проведен поиск выявленной нуклеотидной замены в образцах венозной крови родителей и в одном случае — в образце ДНК плода. Определен тип наследования, проведена оценка вероятности повторного возникновения заболевания у сиблингов при последующих беременностях.

Заключение

Заключение. Описание клинических случаев демонстрирует важность генетической верификации диагноза у пациентов с некомпактной кардиомиопатией для определения прогноза заболевания и разработки алгоритма наблюдения за родственниками пробанда.

Background

Background. Non-compaction cardiomyopathy is a group of genetically heterogeneous, poorly studied myocardial diseases with a variety of clinical manifestations (from asymptomatic course to progressive systolic dysfunction with symptoms of chronic heart failure, arrhythmias, and thromboembolic complications). Considering the variety of genetic disorders associated with the development of noncompaction cardiomyopathy, genetic verification of the diagnosis is important for determining the prognosis and conducting genetic counselling of families with cases of the disease.

Description of the Clinical Case. The article presents two clinical observations of a severe course of non-compaction cardiomyopathy with remodeling of the heart cavities according to the dilated phenotype. In order to clarify the disease etiology, a molecular genetic study was conducted using the method of direct automatic sequencing with the analysis of targeted regions of 404 genes which mutations are described in hereditary diseases of the heart and blood vessels. After verifying the mutation (in the ACTC1 and MYBPC3 genes), we performed a search for the detected nucleotide substitution in the venous blood samples of parents and in one case — in the fetal DNA sample. The mode of inheritance has been determined; the probability of recurrence of the disease in siblings in subsequent pregnancies has been estimated.

Conclusion

Conclusion. The description of clinical cases shows the importance of genetic verification of the diagnosis in patients with non-compaction cardiomyopathy for determining the disease prognosis and developing an algorithm for monitoring relatives of a proband.

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