<i>In‐utero</i> treatment of large symptomatic rhabdomyoma with sirolimus

Vachon-Marceau, Chantale; Guerra, Vitor; Jaeggi, Edgar; Chau, Vann; Ryan, Greg; Mieghem, Tim Van

doi:10.1002/uog.20196

Cited by 23 publications

(26 citation statements)

References 5 publications

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“…Postnatally, the tumors again increased in size, and neonatal sirolimus was restarted at 2 months of life. The second case reported by Vachon‐Marceau et al initiated sirolimus at 31 weeks when the largest tumor was 4.7 cm in max diameter with deterioration of cardiac function (tricuspid regurgitation, biventricular systolic, and diastolic dysfunction) with associated pericardial effusion. There was improvement in tumor size and function until sirolimus was discontinued at 36 weeks.…”

Section: Discussionmentioning

confidence: 97%

“…The new development of mitral valve regurgitation and worsening inflow obstruction were ominous signs of impending hydrops and possible fetal demise. She was then offered options of continued expectant management or off‐label in utero therapy with maternal sirolimus, which has been previously described . A multidisciplinary team was developed, and extensive counseling was performed including discussion of the risks of sirolimus, which included potential maternal bone marrow suppression, transaminitis, proteinuria, hypertriglyceridemia, immunosuppression and infection, oral mucositis, and pneumonitis.…”

Section: Casementioning

confidence: 99%

“…She was then offered options of continued expectant management or off-label in utero therapy with maternal sirolimus, which has been previously described. [21][22][23] A multidisciplinary team was developed, and extensive counseling was performed including discussion of the risks of sirolimus, which included potential maternal bone marrow suppression, transaminitis, proteinuria, hypertriglyceridemia, immunosuppression and infection, oral mucositis, and pneumonitis. A treatment program was initiated as previously described with a 10-mg loading dose, and doses were titrated to a goal maternal trough of 10 to 15 ng/dL.…”

Section: What Does This Study Add?mentioning

confidence: 99%

“…In the postnatal period, mechanistic target of rapamycin (mTOR) inhibitors, sirolimus, and everolimus have been used for symptomatic rhabdomyomas. More recently, single case reports of in utero treatment with maternal sirolimus administration have been used to address fetal rhabdomyomas . Herein, we present an additional case of prenatal treatment of fetal rhabdomyomas with sirolimus that decreased the tumor burden and improved the cardiac function as demonstrated with a novel method of speckle tracking echocardiography.…”

Section: Introductionmentioning

confidence: 99%

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Fetal cardiac rhabdomyomas treated with maternal sirolimus

Pluym

Sklansky

et al. 2020

Prenatal Diagnosis

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Objective To review the pathophysiology of rhabdomyomas and the emerging option of prenatal treatment of fetal cardiac rhabdomyomas. Methods We present a case of fetal rhabdomyomas causing significant hemodynamic compromise that received in utero treatment of maternal sirolimus. Genetic amniocentesis confirmed a TSC2 mutation. A treatment program was initiated with a 10‐mg loading dose titrated to a goal maternal trough of 10 to 15 ng/dL. In order to follow fetal cardiac function, a sophisticated method of speckle tracking echocardiography was used before and after treatment. Obstetric ultrasound was used to monitor fetal growth, and clinical surveillance, echocardiography, and brain MRI were used to monitor postnatal growth and development through 6 months of neonatal life. Results Sirolimus was initiated from 28 to 36 weeks of gestation with improvement of cardiac status. During this period, intrauterine growth restriction developed. Postnatally, the infant has had stable rhabdomyomas and cardiac function without reinitiating sirolimus. Brain MRI demonstrated scattered cortical tubers and subependymal nodules, and the infant has not had seizure‐like activity. At 6 months of age, the infant has achieved appropriate developmental milestones. Conclusion In counseling cases of prenatal onset large obstructing rhabdomyomas and cardiac compromise, in utero sirolimus treatment can be considered.

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Section: Discussionmentioning

confidence: 97%

Section: Casementioning

confidence: 99%

Section: What Does This Study Add?mentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Fetal cardiac rhabdomyomas treated with maternal sirolimus

Pluym

Sklansky

et al. 2020

Prenatal Diagnosis

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“…Cine SFFP performed at 31 weeks' gestation clearly demonstrated the giant mass involving the interventricular septum and the free wall of the left ventricle and demonstrated patency of the left ventricular outflow tract (Video S5). Transplacental treatment with sirolimus was associated with a significant reduction in the volume of the mass and an improvement in biventricular systolic function (Figure ) …”

Section: Fetal Cardiovascular Mri In the Setting Of Pharmacological Fmentioning

confidence: 99%

Current and future role of fetal cardiovascular MRI in the setting of fetal cardiac interventions

Marini

Sun

et al. 2019

Prenatal Diagnosis

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Over recent years, technical developments resulting in the feasibility of fetal cardiovascular magnetic resonance (CMR) have provided a new diagnostic tool for studying the human fetal heart and circulation. During the same period, we have witnessed the arrival of several minimally invasive fetal cardiac interventions (FCI) as a possible form of treatment in selected congenital heart diseases (CHDs). The role of fetal CMR in the planning and monitoring of FCI is not yet clear. Indeed, high-quality fetal CMR is not available or routinely offered at most centers caring for patients with prenatally detected CHD. However, in theory, fetal CMR could have much to offer in the setting of FCI by providing complementary anatomic and physiologic information relating to the specific intervention under consideration. Similarly, fetal CMR may be useful as an alternative imaging modality when ultrasound is hampered by technical limitations, for example, in the setting of oligohydramnios and in late gestation. In this review, we summarize current experience of the use of fetal CMR in the diagnosis and monitoring of fetuses with cardiopathies in the setting of a range of invasive in utero cardiac and vascular interventions and medical treatments and speculate about future directions for this versatile imaging medium.

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