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Case Reports
. 2023 Mar 22;15(1):245-253.
doi: 10.3390/pediatric15010020.

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

Joachim Carsten Will  1 , Nina Siedentopf  2 , Oliver Schmid  3 , Teresa Mira Gruber  2 , Wolfgang Henrich  2 , Christoph Hertzberg  4 , Bernhard Weschke  5
Affiliations
Case Reports

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

Joachim Carsten Will et al. Pediatr Rep. .

Abstract

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.

Keywords: fetal therapies; heart failure; rhabdomyoma; sirolimus; treatment outcome; tuberous sclerosis.

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Conflict of interest statement

The authors declare no conflict of interest.

Figures

Figure 1
Figure 1
Echocardiographic four-chamber view at 25 + 1 GW showing a large rhabdomyoma covering nearly the entire right side of the cardiac structures. TM: tumor, IVS: interventricular septum; RA: right atrium; RV: right ventricle; LV: left ventricle (tumor circumference in green).
Figure 2
Figure 2
Left: fetal T2-weighed MRI at 24 gestational weeks. Right: postnatal T1-weighed MRI. Both show a subependymal nodule in the posterior right lateral ventricle.
Figure 3
Figure 3
Echocardiografic four-chamber view at date of birth showing reduction in the right ventricular tumor size (tumor circumference in green). IVS: interventricular septum; LA: left atrium; LV: left ventricle; RA: right atrium; RV: right ventricle; TM: tumor.
Figure 4
Figure 4
Echocardiografic four-chamber view at age of 2 months showing further reduction in the right ventricular tumor size during specific therapy. The tricuspid valve is tumor-free. IVS: interventricular septum; LA: left atrium; LV: left ventricle; RA: right atrium; RV: right ventricle; TM: tumor.
See this image and copyright information in PMC

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