cardioКардиологияKardiologiia0022-90402412-5660Kardiomag10.18087/cardio.2023.8.n1821cardio-1821Research ArticleКЛИНИЧЕСКИЙ СЛУЧАЙCLINICAL CASE REPORTБессимптомное течение рабдомиомы сердцаAsymptomatic course of rhabdomyoma of the hearthttps://orcid.org/0000-0002-3834-4699ЧепурненкоС. А.ChepurnenkoS. A.

доктор медицинских наук, доцент кафедры общей врачебной практики (семейной медицины) (с курсами гериатрии и физиотерапии); кардиолог 

Ростов-на-Дону, Россия

Doctor of Medical Sciences; Associate Professor at the Department of General Medical Practice (Family Medicine) with courses in geriatrics and physiotherapy; cardiologist of the Cardiological dispensary department

Rostov-on-Don, Russia 

 

ch.svet2013@yandex.ruhttps://orcid.org/0000-0001-6341-6749НасыткоА. Д.NasytkoA. D.

Студент, медицинская сестра кованного госпиталя

Ростов-на-Дону, Россия

resident 2 years in the specialty of "Cardiology"

Rostov-on-Don, Russia 

rainbow98al@gmail.comhttps://orcid.org/0000-0003-4160-8154ШавкутаГ. В.ShavkutaG. V.

доктор медицинских наук, профессор, заведующая кафедры общей врачебной практики (семейной медицины) (с курсами гериатрии и физиотерапии) 

Ростов-на-Дону, Россия

Doctor of Medical Sciences, Professor; Head of the Department of General Medical Practice (Family Medicine) with courses of geriatrics and physiotherapy

Rostov-on-Don, Russia 

lan0206@mail.ruГБУ РО «Ростовская областная клиническая больница»РоссияRostov Regional Clinical HospitalRussian FederationФГБОУ ВО «Ростовский государственный медицинский университет» Минздрава РФРоссияRostov State Medical UniversityRussian Federation2023310820236386872Copyright © Kardiomag, 20232023KardiomagKardiomaghttps://cardio.elpub.ru/jour/about/submissions#copyrightNoticehttps://cardio.elpub.ru/jour/article/view/1821

В статье описывается клинический случай рабдомиомы сердца, впервые выявленной у девушки 18 лет. В возрасте 12 месяцев у пациентки впервые развился генерализованный длительный судорожный приступ с заведением глазных яблок вверх, тоническим напряжением рук, обильным слюнотечением. С 1,5 до 2‑х лет, со слов мамы, у девочки были частые «замирания» с остановкой взора. Противосудорожную терапию не получала. С 2‑х лет 8 месяцев у ребенка стали отмечаться эпизоды сонливости, вялости, смазанности речи, повторных рвот, продолжительностью до 2‑х недель. Пациентка регулярно лечилась в неврологическом отделении. По данным КТ в 4 года у пациентки были выявлены характерные изменения в головном мозге и установлен диагноз: Туберозный склероз. Симптоматическая генерализованная эпилепсия. Психоорганический синдром. Только в 18‑летнем возрасте при ультразвуковом исследовании сердца в толще миокарда передне-боковой стенки левого желудочка (ЛЖ) выявлено гиперэхогенное образование с эндогенным ростом 7×6 мм и второе – в области боковой стенки ЛЖ с эндогенным ростом 2×4 мм. По данным магнитно-резонансной томографии (МРТ) выявлены множественные очаговые образования с четкими ровными контурами в области среднего передне-перегородочного сегмента (тесно прилежащее к сосочковым мышцам) в области верхушки (в толще миокарда), размерами 9×7, 8×13 мм и 7,5×6 мм, соответственно, умеренно накапливающие контрастное вещество. По передней стенке в области верхушки в толще миокарда визуализировались очаги идентичных характеристик диаметром до 4,5 мм. В связи с отсутствием нарушений ритма и гемодинамики иммуносупрессивная терапия не назначена. Рекомендовано динамическое наблюдение и контроль МРТ сердца в динамике. При выявлении признаков роста опухоли рассмотреть вопрос об иммуносупрессивной терапии эверолимусом. Случай представляет интерес длительным бессимптомным течением рабдомиомы. Обычно сердечные рабдомиомы диагностируются в постнатальном периоде и могут быть самым ранним проявлением туберозного склероза.

The article describes a clinical case of cardiac rhabdomyoma first diagnosed in an 18-year-old girl. At the age of 12 months, the patient first developed generalized, prolonged convulsive seizure with the eyeballs rolling upward, tonic arm tension, and profuse salivation. From 1.5 to 2 years, according to her mother, the girl had frequent "freezing" with fixed stare. Anticonvulsant therapy was not administered. From the age of 2 years 8 months, the child began to experience episodes of drowsiness, lethargy, blurred speech, and repeated vomiting lasting up to 2 weeks. The patient was regularly treated at the neurological department. According to CT at the age of four, the patient showed characteristic alterations in the brain and was diagnosed with tuberous sclerosis, symptomatic generalized epilepsy, and psychoorganic syndrome. Only at the age of 18, cardiac ultrasound detected a 7x6 mm hyperechoic formation with endogenous growth buried in the myocardium of the left ventricular (LV) anterior-lateral wall and another one in the area of the LV lateral wall with endogenous growth of 2×4 mm. Magnetic resonance imaging (MRI) revealed multiple focal formations with clear, even contours in the area of the middle anterior septal segment (closely adjacent to papillary muscles) in the region of the apex, buried in the myocardium. The formation sizes were 9×7 mm, 8×13 mm, and 7.5×6 mm, respectively, and they moderately accumulated the contrast agent. Lesions with identical characteristics and a diameter up to 4.5 mm were visualized on the anterior wall in the region of the apex, in the depth of the myocardium. Due to the absence of arrhythmias and hemodynamic disorders, immunosuppressive therapy was not administered. Follow-up and dynamic MRI control of the heart were recommended. If signs of tumor growth are detected, consider immunosuppressive therapy with everolimus. The case is of interest for a long asymptomatic growth of rhabdomyoma. Generally, cardiac rhabdomyomas are diagnosed in the postnatal period and may be the earliest manifestation of tuberous sclerosis.

Рабдомиоматуберозный склерозопухоли сердцамагнитно-резонансная томографияRhabdomyomatuberous sclerosisheart tumorsmagnetic resonance imagingКонфликт интересов не заявленNo conflict of interest is reported.ReferencesChang J-S, Chiou P-Y, Yao S-H, Chou I-C, Lin C-Y. Regression of Neonatal Cardiac Rhabdomyoma in Two Months Through Low-Dose Everolimus Therapy: A Report of Three Cases. Pediatric Cardiology. 2017;38(7):1478–84. DOI: 10.1007/s00246-017-1688-4Chang J-S, Chiou P-Y, Yao S-H, Chou I-C, Lin C-Y. Regression of Neonatal Cardiac Rhabdomyoma in Two Months Through Low-Dose Everolimus Therapy: A Report of Three Cases. Pediatric Cardiology. 2017;38(7):1478–84. DOI: 10.1007/s00246-017-1688-4Davis KA, Dodeja AK, Clark A, Hor K, Baker P, Cripe LH et al. Use of Cardiac MRI to Assess Antitumor Efficacy of Everolimus in Sporadic Cardiac Rhabdomyoma. Pediatrics. 2019;143(6):e20182495. DOI: 10.1542/peds.2018-2495Davis KA, Dodeja AK, Clark A, Hor K, Baker P, Cripe LH et al. Use of Cardiac MRI to Assess Antitumor Efficacy of Everolimus in Sporadic Cardiac Rhabdomyoma. Pediatrics. 2019;143(6):e20182495. DOI: 10.1542/peds.2018-2495Dhulipudi B, Bhakru S, Rajan S, Doraiswamy V, Koneti N. Symptomatic improvement using everolimus in infants with cardiac rhabdomyoma. Annals of Pediatric Cardiology. 2019;12(1):45–8. DOI: 10.4103/apc.APC_79_18Dhulipudi B, Bhakru S, Rajan S, Doraiswamy V, Koneti N. Symptomatic improvement using everolimus in infants with cardiac rhabdomyoma. Annals of Pediatric Cardiology. 2019;12(1):45–8. DOI: 10.4103/apc.APC_79_18Park H, Chang CS, Choi S-J, Oh S, Roh C-R. Sirolimus therapy for fetal cardiac rhabdomyoma in a pregnant woman with tuberous sclerosis. Obstetrics & Gynecology Science. 2019;62(4):280–4. DOI: 10.5468/ogs.2019.62.4.280Park H, Chang CS, Choi S-J, Oh S, Roh C-R. Sirolimus therapy for fetal cardiac rhabdomyoma in a pregnant woman with tuberous sclerosis. Obstetrics & Gynecology Science. 2019;62(4):280–4. DOI: 10.5468/ogs.2019.62.4.280Ekmekci E, Ozkan BO, Yildiz MS, Kocakaya B. Prenatal diagnosis of fetal cardiac rhabdomyoma associated with tuberous sclerosis: A case report. Case Reports in Women’s Health. 2018;19:e00070. DOI: 10.1016/j.crwh.2018.e00070Ekmekci E, Ozkan BO, Yildiz MS, Kocakaya B. Prenatal diagnosis of fetal cardiac rhabdomyoma associated with tuberous sclerosis: A case report. Case Reports in Women’s Health. 2018;19:e00070. DOI: 10.1016/j.crwh.2018.e00070Bejiqi R, Retkoceri R, Bejiqi H. Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma - Single Centre Experience. Open Access Macedonian Journal of Medical Sciences. 2017;5(2):193–6. DOI: 10.3889/oamjms.2017.040Bejiqi R, Retkoceri R, Bejiqi H. Prenatally Diagnosis and Outcome of Fetuses with Cardiac Rhabdomyoma - Single Centre Experience. Open Access Macedonian Journal of Medical Sciences. 2017;5(2):193–6. DOI: 10.3889/oamjms.2017.040Darling TN. Topical Sirolimus to Treat Tuberous Sclerosis Complex (TSC). JAMA Dermatology. 2018;154(7):761–2. DOI: 10.1001/jamadermatol.2018.0465Darling TN. Topical Sirolimus to Treat Tuberous Sclerosis Complex (TSC). JAMA Dermatology. 2018;154(7):761–2. DOI: 10.1001/jamadermatol.2018.0465Wang W, Guo H, Shi B, Sun H, Li H, Zhang Y et al. CT characteristics predict the response to everolimus or sirolimus of renal angiomyolipomas in patients with tuberous sclerosis complex. International Urology and Nephrology. 2019;51(4):671–6. DOI: 10.1007/s11255-019- 02093-6Wang W, Guo H, Shi B, Sun H, Li H, Zhang Y et al. CT characteristics predict the response to everolimus or sirolimus of renal angiomyolipomas in patients with tuberous sclerosis complex. International Urology and Nephrology. 2019;51(4):671–6. DOI: 10.1007/s11255-019- 02093-6Донюш Е.К., Кондрашова З.А., Поляев Ю.А., Гарбузов Р.В. Опыт использования сиролимуса в лечении детей с сосудистыми аномалиями. Российский журнал детской гематологии и онкологии. 2020;7(3):22-31. DOI: 10.21682/2311-1267-2020-7-3-22-31Donyush E.K., Kondrashova Z.A., Polyaev Yu.A., Garbuzov R.V. Sirolimus for the treatment of vascular anomalies in children. Russian Journal of Pediatric Hematology and Oncology. 2020;7(3):22– 31. DOI: 10.21682/2311-1267-2020-7-3-22-31Jacob S, Nair AB. A review on therapeutic drug monitoring of the mTOR class of immunosuppressants: everolimus and sirolimus. Drugs & Therapy Perspectives. 2017;33(6):290–301. DOI: 10.1007/s40267-017-0403-0Jacob S, Nair AB. A review on therapeutic drug monitoring of the mTOR class of immunosuppressants: everolimus and sirolimus. Drugs & Therapy Perspectives. 2017;33(6):290–301. DOI: 10.1007/s40267-017-0403-0Brede C, Vethe NT, Skadberg Ø. The Question of Accuracy versus Interlaboratory Agreement for Monitoring the Immunosuppressants Everolimus and Sirolimus. Therapeutic Drug Monitoring. 2021;43(3):444–6. DOI: 10.1097/FTD.0000000000000892Brede C, Vethe NT, Skadberg Ø. The Question of Accuracy versus Interlaboratory Agreement for Monitoring the Immunosuppressants Everolimus and Sirolimus. Therapeutic Drug Monitoring. 2021;43(3):444–6. DOI: 10.1097/FTD.0000000000000892Martinez AP, Fritchie KJ, Weiss SW, Agaimy A, Haller F, Huang H-Y et al. Histiocyte-rich rhabdomyoblastic tumor: rhabdomyosarcoma, rhabdomyoma, or rhabdomyoblastic tumor of uncertain malignant potential? A histologically distinctive rhabdomyoblastic tumor in search of a place in the classification of skeletal muscle neoplasms. Modern Pathology. 2019;32(3):446–57. DOI: 10.1038/s41379-018- 0145-0Martinez AP, Fritchie KJ, Weiss SW, Agaimy A, Haller F, Huang H-Y et al. Histiocyte-rich rhabdomyoblastic tumor: rhabdomyosarcoma, rhabdomyoma, or rhabdomyoblastic tumor of uncertain malignant potential? A histologically distinctive rhabdomyoblastic tumor in search of a place in the classification of skeletal muscle neoplasms. Modern Pathology. 2019;32(3):446–57. DOI: 10.1038/s41379-018- 0145-0Ide T, Miyoshi T, Katsuragi S, Neki R, Kurosaki K, Shiraishi I et al. Prediction of postnatal arrhythmia in fetuses with cardiac rhabdomyoma. The Journal of Maternal-Fetal & Neonatal Medicine. 2019;32(15):2463–8. DOI: 10.1080/14767058.2018.1438402Ide T, Miyoshi T, Katsuragi S, Neki R, Kurosaki K, Shiraishi I et al. Prediction of postnatal arrhythmia in fetuses with cardiac rhabdomyoma. The Journal of Maternal-Fetal & Neonatal Medicine. 2019;32(15):2463–8. DOI: 10.1080/14767058.2018.1438402Shibata Y, Maruyama H, Hayashi T, Ono H, Wada Y, Fujinaga H et al. Effect and Complications of Everolimus Use for Giant Cardiac Rhabdomyomas with Neonatal Tuberous Sclerosis. American Journal of Perinatology Reports. 2019;9(3):e213–7. DOI: 10.1055/s-0039-1692198Shibata Y, Maruyama H, Hayashi T, Ono H, Wada Y, Fujinaga H et al. Effect and Complications of Everolimus Use for Giant Cardiac Rhabdomyomas with Neonatal Tuberous Sclerosis. American Journal of Perinatology Reports. 2019;9(3):e213–7. DOI: 10.1055/s-0039-1692198Nespoli LF, Albani E, Corti C, Spaccini L, Alfei E, Daniele I et al. Efficacy of Everolimus Low-Dose Treatment for Cardiac Rhabdomyomas in Neonatal Tuberous Sclerosis: Case Report and Literature Review. Pediatric Reports. 2021;13(1):104–12. DOI: 10.3390/pediatric13010015Nespoli LF, Albani E, Corti C, Spaccini L, Alfei E, Daniele I et al. Efficacy of Everolimus Low-Dose Treatment for Cardiac Rhabdomyomas in Neonatal Tuberous Sclerosis: Case Report and Literature Review. Pediatric Reports. 2021;13(1):104–12. DOI: 10.3390/pediatric13010015Stelmaszewski EV, Parente DB, Farina A, Stein A, Gutierrez A, Raquelo-Menegassio AF et al. Everolimus for cardiac rhabdomyomas in children with tuberous sclerosis. The ORACLE study protocol (everOlimus for caRdiac rhAbdomyomas in tuberous sCLErosis): a randomised, multicentre, placebo-controlled, double-blind phase II trial. Cardiology in the Young. 2020;30(3):337–45. DOI: 10.1017/S1047951119003147Stelmaszewski EV, Parente DB, Farina A, Stein A, Gutierrez A, Raquelo-Menegassio AF et al. Everolimus for cardiac rhabdomyomas in children with tuberous sclerosis. The ORACLE study protocol (everOlimus for caRdiac rhAbdomyomas in tuberous sCLErosis): a randomised, multicentre, placebo-controlled, double-blind phase II trial. Cardiology in the Young. 2020;30(3):337–45. DOI: 10.1017/S1047951119003147Chen X-Q, Wang Y-Y, Zhang M-N, Lu Q, Pang L-Y, Liu L-Y et al. Sirolimus Can Increase the Disappearance Rate of Cardiac Rhabdomyomas Associated with Tuberous Sclerosis: A Prospective Cohort and Self-Controlled Case Series Study. The Journal of Pediatrics. 2021;233:150-155.e4. DOI: 10.1016/j.jpeds.2021.02.040Chen X-Q, Wang Y-Y, Zhang M-N, Lu Q, Pang L-Y, Liu L-Y et al. Sirolimus Can Increase the Disappearance Rate of Cardiac Rhabdomyomas Associated with Tuberous Sclerosis: A Prospective Cohort and Self-Controlled Case Series Study. The Journal of Pediatrics. 2021;233:150-155.e4. DOI: 10.1016/j.jpeds.2021.02.040

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