Obstet Gynecol Sci.  2019 Jul;62(4):280-284. 10.5468/ogs.2019.62.4.280.

Sirolimus therapy for fetal cardiac rhabdomyoma in a pregnant woman with tuberous sclerosis

• Park H
• Chang CS
• Choi SJ
• Oh SY
• Roh CR

• KMID: 2451658
• DOI: http://doi.org/10.5468/ogs.2019.62.4.280

Abstract

Rhabdomyoma is the most common fetal cardiac tumor, and its development is related to tuberous sclerosis. Fetal cardiac rhabdomyomas often spontaneously regress in utero or after birth, but large tumors can cause hemodynamic obstruction. Sirolimus, a mammalian target of rapamycin (mTOR) inhibitor, has been used as an immunosuppressant after organ transplantation. The mTOR inhibitors are well-known to have anti-tumor activity, and they have been used for the treatment of patients with tuberous sclerosis. In the current case, fetal cardiac rhabdomyoma was completely resolved in utero during oral sirolimus treatment in the mother with tuberous sclerosis. This case shows that oral sirolimus therapy in pregnancy may be a treatment for multiple or large fetal cardiac rhabdomyomas.

Keyword

Sirolimus; Cardiac tumor; Rhabdomyoma; Tuberous sclerosis; Fetal therapy

MeSH Terms

Female
Fetal Therapies
Heart Neoplasms
Hemodynamics
Humans
Mothers
Organ Transplantation
Parturition
Pregnancy
Pregnant Women*
Rhabdomyoma*
Sirolimus*
Transplants
Tuberous Sclerosis*
Sirolimus

Figure

• 

  Fig. 1 Findings of fetal echocardiography. (A, B) Fatal echocardiogram of both ventricles at 24 weeks 5 days of pregnancy. Two large echogenic intracardiac masses were detected. 1.0×1.0 cm sized tumor in RV, 1.2×0.9 cm sized tumor in LV. (C) Fetal echocardiogram showing marked regression of fetal cardiac tumors at 27 weeks 5 days of pregnancy. Only one tiny cardiac tumor was detected on fetal echocardiography (size of 0.4×0.2 cm in RV). (D) Fetal echocardiogram at 29 weeks 5 days of pregnancy showing no residual tumor in both RV and LV. RV, right ventricle; LV, left ventricle.

• 

  Fig. 2 Findings of neonatal sonography. (A) Neonatal echocardiography showed no intracardiac tumor 1 day after birth. (B) Brain sonography of neonate revealed multifocal subcortical tubers suspicious subependymal nodules. (C) Abdomen sonography also found suspicious echogenic lesions in both kidney medullary area.

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