Successful use of sirolimus for refractory atrial ectopic tachycardia in a child with cardiac rhabdomyoma

Ninić, Sanja; Kalaba, Marija; Jovicic, Bosiljka; Vukomanović, Vladislav; Prijić, Sergej; Vucetic, Branka; Kravljanac, Ružica; Vujic, Ana; Košutić, Jovan

doi:10.1111/anec.12435

Cited by 12 publications

(9 citation statements)

References 12 publications

(18 reference statements)

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“…Although in most cases, rhabdomyomas are asymptomatic and involute in the first years of life, when they generate mass effects or affect ventricular function, as demonstrated in patient 2, treatment with inhibitors of the mTOR pathway yields an excellent response, reducing the tumor size and skin lesions present in this pathology . Among the cardiac manifestations described, supraventricular tachycardia and hidden accessory pathways are the most frequently reported.…”

Section: Discussionmentioning

confidence: 94%

“…In 2011, treatment with mTOR pathway inhibitors (everolimus and sirolimus) was proposed for patients with cortical tubers, subependymal giant cell astrocytoma (SEGA), or facial angiofibromas, with good results. Currently, these drugs are also proposed for the reduction of giant cardiac rhabdomyomas when these generate hemodynamic compromise or produce dysrhythmias refractory to medical treatment . Recently, a case of oral treatment with sirolimus was reported in a pregnant patient at 30 weeks' gestation with a progressively obstructive fetal cardiac rhabdomyoma with adequate response and no apparent complications at follow‐up …”

Section: Introductionmentioning

confidence: 99%

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Clinical and genetic description of patients with prenatally identified cardiac tumors

et al. 2019

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Objective: Rhabdomyomas are the most common type of prenatal cardiac tumors.When isolated, 50% to 70% are related to the tuberous sclerosis complex (TSC). The aim of this study was to reinforce the importance of additional clinical data in patients with prenatal heart tumors.Methods: From 2010 to 2017, 10 prenatally detected cardiac tumors were referred to the Genetics Department, and a complete family history was taken. Postnatal echocardiographic and full clinical evaluation were completed. Next generation sequencing (NGS) of the TSC1 and TSC2 genes was performed. Results:The 10 cases were postnatally confirmed as rhabdomyomas. Four de novo and four family cases were detected, and only one patient was previously aware of the TSC diagnosis. Molecular analysis by NGS was performed in four patients with three TSC2 mutations, two of which were previously reported and one not. Discussion:Prenatal cardiac tumors are associated with TSC in 60% of cases. Prenatal diagnosis of cardiac tumors permits a further analysis of family members using the fetus as a clue for familial disease diagnosis.

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Section: Discussionmentioning

confidence: 94%

Section: Introductionmentioning

confidence: 99%

Clinical and genetic description of patients with prenatally identified cardiac tumors

et al. 2019

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“…Mutations in either tuberous sclerosis complex (TSC1 or TSC2) causes abnormal activation of the mTOR pathway, leading to increased cell growth and proliferation. TSC1 or TSC2 dysfunction is responsible for the hamartomatous lesions of tuberous sclerosis [4].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2019

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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.

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“…One study classified as “other” was excluded as it was a notifying article about the planned randomized study of everolimus in CRs treatment [ 23 ]. Overall, 30 reports were included in the systematic review [ 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 , 47 , 48 , 49 , 50 , 51 , 52 , 53 ]. Three of the included articles partially duplicated the case reports [ 24 , 34 , 53 ].…”

Section: Resultsmentioning

confidence: 99%

Treatment of Cardiac Rhabdomyomas with mTOR Inhibitors in Children with Tuberous Sclerosis Complex—A Systematic Review

Sugalska

Tomik

Jóźwiak

et al. 2021

IJERPH

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Background: Cardiac rhabdomyomas (CRs) are the earliest sign of tuberous sclerosis complex (TSC). Most of them spontaneously regress after birth. However, multiple and/or large tumors may result in heart failure or cardiac arrhythmia. Recently, the attempts to treat CRs with mTOR inhibitors (mTORi) have been undertaken. We reviewed the current data regarding the effectiveness and safety of mTORi in the treatment of CRs in children with TSC. Methods: The review was conducted according to the PRISMA guidelines. Medline, Embase, Cochrane library, and ClinicalTrial.gov databases were searched for original, full-text articles reporting the use of mTORi (everolimus or sirolimus) in the treatment of CRs in children with TSC. Results: Thirty articles describing 41 patients were identified (mostly case reports, no randomized or large cohort studies). Thirty-three children (80.5%) had symptomatic CRs and mTORi therapy resulted in clinical improvement in 30 of them (90.9%). CRs size reduction was reported in 95.1%. Some CRs regrew after mTORi withdrawal but usually without clinical symptoms recurrence. The observed side effects were mostly mild. Conclusions: mTORi may be considered as a temporary and safe treatment for symptomatic CRs in children with TSC, especially in high-risk or inoperable tumors. However, high-quality, randomized trials are still lacking.

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Successful use of sirolimus for refractory atrial ectopic tachycardia in a child with cardiac rhabdomyoma

Cited by 12 publications

References 12 publications

Clinical and genetic description of patients with prenatally identified cardiac tumors

Clinical and genetic description of patients with prenatally identified cardiac tumors

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

Treatment of Cardiac Rhabdomyomas with mTOR Inhibitors in Children with Tuberous Sclerosis Complex—A Systematic Review

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