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A rare clinical case of tuberous sclerosis with cardiac rhabdomyoma in a newborn

https://doi.org/10.25789/YMJ.2025.92.33

Abstract

This article presents a rare case of tuberous sclerosis with cardiac rhabdomyoma in a newborn. Rhabdomyoma is a benign tumor in the heart cavity, arising from embryonic muscle cells, and is frequently associated with tuberous sclerosis (TS), serving as its diagnostic marker. The disease was not detected prenatally. Postnatally, the infant was found to have a heart murmur; within days depigmented patches appeared all over the body, predominantly on the back, groin area, and legs. The diagnosis was established based on echocardiography. To determine further management tactics, a telemedicine consultation was conducted with the Federal Center for Cardiovascular Surgery in Khabarovsk, and the diagnosis was confirmed. Urgent planned surgical intervention was indicated.

About the Authors

Ya. A. Munkhalova
ФГАОУ ВО «Северо-Восточный федеральный университет имени М.К. Аммосова»
Russian Federation


S. I. Tumanova
ГАУ РС(Я) «Республиканская больница №1 – Национальный центр медицины имени М.Е. Николаева»
Russian Federation


V. M. Argunova
ГАУ РС(Я) «Республиканская больница №1 – Национальный центр медицины имени М.Е. Николаева»
Russian Federation


L. I. Semenova
ГАУ РС(Я) «Республиканская больница №1 – Национальный центр медицины имени М.Е. Николаева»
Russian Federation


V. B. Egorova
ФГАОУ ВО «Северо-Восточный федеральный университет имени М.К. Аммосова»
Russian Federation


T. E. Burtseva
ФГАОУ ВО «Северо-Восточный федеральный университет имени М.К. Аммосова»; ФГБНУ «Якутский научный центр комплексных медицинский проблем»
Russian Federation


S. N. Alekseeva
ГАУ РС(Я) «Республиканская больница №1 – Национальный центр медицины имени М.Е. Николаева»; ФГАОУ ВО «Северо-Восточный федеральный университет имени М.К. Аммосова»
Russian Federation


A-U. A. Novikova
ФГАОУ ВО «Северо-Восточный федеральный университет имени М.К. Аммосова»
Russian Federation


References

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Review

For citations:


Munkhalova Ya.A., Tumanova S.I., Argunova V.M., Semenova L.I., Egorova V.B., Burtseva T.E., Alekseeva S.N., Novikova A.A. A rare clinical case of tuberous sclerosis with cardiac rhabdomyoma in a newborn. Yakut Medical Journal. 2025;(4):148-150. (In Russ.) https://doi.org/10.25789/YMJ.2025.92.33

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ISSN 1813-1905 (Print)
ISSN 2312-1017 (Online)