TY - GEN
T1 - Transplacental Sirolimus for Reversal of Fetal Heart Failure due to Fetal Cardiac Rhabdomyoma: Fetal and Maternal Considerations
AU - Gonçalves, Maria Beatriz Siggia
AU - Carvalho, Mariana Azevedo
AU - Favaro, Gustavo Antonio Guimarães
AU - Mihich, Juliana Salem
AU - Leite, Juliana Pavan
AU - Correia de Melo, Aline Franciele
AU - Camargo, Fabricio Marcondes
AU - de Queiroz Soares, Diogo Cordeiro
AU - Schmidt Arenholt, Louise Thomsen
AU - Leutscher, Peter Christian
AU - Bernardes, Lisandra Stein
N1 - © 2025 S. Karger AG, Basel.
PY - 2025/1/22
Y1 - 2025/1/22
N2 - BACKGROUND: Rhabdomyoma is the most common cardiac tumor in fetal life. It has frequent association with tuberous sclerosis complex and may lead to heart failure, a potentially fatal condition. The use of transplacental sirolimus, a mammalian target of rapamycin inhibitor, has emerged as a novel treatment in symptomatic fetal rhabdomyomas; however, there are only few cases described.CASE PRESENTATION: A 37-year-old woman at 29 weeks and 4 days of gestation had been diagnosed with fetal cardiac tumor, adhered adjacent to the left ventricle, associated with heart dysfunction and polyhydramnios. Therapy with oral sirolimus was started, and, once serum levels were achieved, cardiac tumor reduction was observed, with progressive resolution of cardiac dysfunction. However, maternal hypertriglyceridemia was developed as a side effect, a rarely discussed theme on previous articles, and was successfully controlled with dose reduction. The patient delivered a male infant at 38 weeks and 2 days of pregnancy with no need of any resuscitation maneuver.CONCLUSION: Transplacental treatment with sirolimus is a promising therapeutic option to treat symptomatic fetal rhabdomyomas, but more data are demanded to determine its efficacy and safety during pregnancy. A close maternal follow-up concerning triglyceride levels is mandatory.
AB - BACKGROUND: Rhabdomyoma is the most common cardiac tumor in fetal life. It has frequent association with tuberous sclerosis complex and may lead to heart failure, a potentially fatal condition. The use of transplacental sirolimus, a mammalian target of rapamycin inhibitor, has emerged as a novel treatment in symptomatic fetal rhabdomyomas; however, there are only few cases described.CASE PRESENTATION: A 37-year-old woman at 29 weeks and 4 days of gestation had been diagnosed with fetal cardiac tumor, adhered adjacent to the left ventricle, associated with heart dysfunction and polyhydramnios. Therapy with oral sirolimus was started, and, once serum levels were achieved, cardiac tumor reduction was observed, with progressive resolution of cardiac dysfunction. However, maternal hypertriglyceridemia was developed as a side effect, a rarely discussed theme on previous articles, and was successfully controlled with dose reduction. The patient delivered a male infant at 38 weeks and 2 days of pregnancy with no need of any resuscitation maneuver.CONCLUSION: Transplacental treatment with sirolimus is a promising therapeutic option to treat symptomatic fetal rhabdomyomas, but more data are demanded to determine its efficacy and safety during pregnancy. A close maternal follow-up concerning triglyceride levels is mandatory.
KW - Fetal rhabdomyoma
KW - Heart failure
KW - Sirolimus
UR - http://www.scopus.com/inward/record.url?scp=86000519564&partnerID=8YFLogxK
U2 - 10.1159/000542664
DO - 10.1159/000542664
M3 - Case Report
C2 - 39842416
SN - 1015-3837
JO - Fetal Diagnosis and Therapy
JF - Fetal Diagnosis and Therapy
ER -