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Successful Prenatal Treatment of Cardiac Rhabdomyoma in a Fetus with Tuberous Sclerosis

Cardiac rhabdomyomas are a possible early manifestation of the Tuberous Sclerosis Complex (TSC). They often regress spontaneously but may grow and cause cardiac dysfunction, threatening the child’s life. Treatment with rapalogs can stop the growth of these cardiac tumors and even make them shrink. H...

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Autores principales: Will, Joachim Carsten, Siedentopf, Nina, Schmid, Oliver, Gruber, Teresa Mira, Henrich, Wolfgang, Hertzberg, Christoph, Weschke, Bernhard
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10059978/
https://www.ncbi.nlm.nih.gov/pubmed/36976727
http://dx.doi.org/10.3390/pediatric15010020
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author Will, Joachim Carsten
Siedentopf, Nina
Schmid, Oliver
Gruber, Teresa Mira
Henrich, Wolfgang
Hertzberg, Christoph
Weschke, Bernhard
author_facet Will, Joachim Carsten
Siedentopf, Nina
Schmid, Oliver
Gruber, Teresa Mira
Henrich, Wolfgang
Hertzberg, Christoph
Weschke, Bernhard
author_sort Will, Joachim Carsten
collection PubMed
description Cardiac rhabdomyomas are a possible early manifestation of the Tuberous Sclerosis Complex (TSC). They often regress spontaneously but may grow and cause cardiac dysfunction, threatening the child’s life. Treatment with rapalogs can stop the growth of these cardiac tumors and even make them shrink. Here, we present the case of a successful treatment of a cardiac rhabdomyoma in a fetus with TSC by administering sirolimus to the mother. The child’s father carries a TSC2 mutation and the family already had a child with TSC. After we confirmed the TSC diagnosis and growth of the tumor with impending heart failure, we started treatment at 27 weeks of gestation. Subsequently, the rhabdomyoma shrank and the ventricular function improved. The mother tolerated the treatment very well. Delivery was induced at 39 weeks and 1 day of gestation and proceeded without complications. The length, weight, and head circumference of the newborn were normal for the gestational age. Rapalog treatment was continued with everolimus. Metoprolol and vigabatrin were added because of ventricular preexcitation and epileptic discharges in the EEG, respectively. We provide the follow-up data on the child’s development in her first two years of life and discuss the efficacy and safety of this treatment.
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spelling pubmed-100599782023-03-30 Successful Prenatal Treatment of Cardiac Rhabdomyoma in a Fetus with Tuberous Sclerosis Will, Joachim Carsten Siedentopf, Nina Schmid, Oliver Gruber, Teresa Mira Henrich, Wolfgang Hertzberg, Christoph Weschke, Bernhard Pediatr Rep Case Report Cardiac rhabdomyomas are a possible early manifestation of the Tuberous Sclerosis Complex (TSC). They often regress spontaneously but may grow and cause cardiac dysfunction, threatening the child’s life. Treatment with rapalogs can stop the growth of these cardiac tumors and even make them shrink. Here, we present the case of a successful treatment of a cardiac rhabdomyoma in a fetus with TSC by administering sirolimus to the mother. The child’s father carries a TSC2 mutation and the family already had a child with TSC. After we confirmed the TSC diagnosis and growth of the tumor with impending heart failure, we started treatment at 27 weeks of gestation. Subsequently, the rhabdomyoma shrank and the ventricular function improved. The mother tolerated the treatment very well. Delivery was induced at 39 weeks and 1 day of gestation and proceeded without complications. The length, weight, and head circumference of the newborn were normal for the gestational age. Rapalog treatment was continued with everolimus. Metoprolol and vigabatrin were added because of ventricular preexcitation and epileptic discharges in the EEG, respectively. We provide the follow-up data on the child’s development in her first two years of life and discuss the efficacy and safety of this treatment. MDPI 2023-03-22 /pmc/articles/PMC10059978/ /pubmed/36976727 http://dx.doi.org/10.3390/pediatric15010020 Text en © 2023 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Case Report
Will, Joachim Carsten
Siedentopf, Nina
Schmid, Oliver
Gruber, Teresa Mira
Henrich, Wolfgang
Hertzberg, Christoph
Weschke, Bernhard
Successful Prenatal Treatment of Cardiac Rhabdomyoma in a Fetus with Tuberous Sclerosis
title Successful Prenatal Treatment of Cardiac Rhabdomyoma in a Fetus with Tuberous Sclerosis
title_full Successful Prenatal Treatment of Cardiac Rhabdomyoma in a Fetus with Tuberous Sclerosis
title_fullStr Successful Prenatal Treatment of Cardiac Rhabdomyoma in a Fetus with Tuberous Sclerosis
title_full_unstemmed Successful Prenatal Treatment of Cardiac Rhabdomyoma in a Fetus with Tuberous Sclerosis
title_short Successful Prenatal Treatment of Cardiac Rhabdomyoma in a Fetus with Tuberous Sclerosis
title_sort successful prenatal treatment of cardiac rhabdomyoma in a fetus with tuberous sclerosis
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10059978/
https://www.ncbi.nlm.nih.gov/pubmed/36976727
http://dx.doi.org/10.3390/pediatric15010020
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