Rhabdomyoma

BackgroundRhabdomyomas are the most common type of cardiac tumors in children. Anatomically, they can be considered as hamartomas. They are usually randomly diagnosed antenatally or postnatally sometimes presenting in the neonatal period with haemodynamic compromise or severe arrhythmias although most neonatal cases remain asymptomatic. Typically rhabdomyomas are multiple lesions and usually regress spontaneously but are often associated with tuberous sclerosis complex (TSC), an autosomal dominant multisystem disorder caused by mutations in either of the two genes, TSC1 or TSC2. Diagnosis of tuberous sclerosis is usually made on clinical grounds and eventually confirmed by a genetic test by searching for TSC genes mutations.MethodsWe report our experience on 33 cases affected with rhabdomyomas and diagnosed from January 1989 to December 2012, focusing on the cardiac outcome and on association with the signs of tuberous sclerosis complex. We performed echocardiography using initially a Philips Sonos 2500 with a 7,5/5 probe and in the last 4 years a Philips IE33 with a S12-4 probe. We investigated the family history, brain, skin, kidney and retinal lesions, development of seizures, and neuropsychiatric disorders.ResultsAt diagnosis we detected 205 masses, mostly localized in interventricular septum, right ventricle and left ventricle. Only in 4 babies (12%) the presence of a mass caused a significant obstruction. A baby, with an enormous septal rhabdomyoma associated to multiple rhabdomyomas in both right and left ventricular walls died just after birth due to severe heart failure. During follow-up we observed a reduction of rhabdomyomas in terms of both number and size in all 32 surviving patients except in one child. Eight patients (24,2%) had an arrhythmia and in 2 of these cases rhabdomyomas led to Wolf-Parkinson-White Syndrome. For all patients the arrhythmia spontaneously totally disappeared or was reduced gradually. With regarding to association with tuberous sclerosis, we diagnosed tuberous sclerosis clinically in 31 babies (93,9%).ConclusionRhabdobyomas are tumors with favorable prognosis because they frequently do not cause symptoms and they often regress in numbers and size. Nevertheless, due to frequent association with tuberous sclerosis complex and the resulting neurological impairment, the prognosis can result unfavorable.

BackgroundCardiac 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.MethodsThe 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.ResultsThirty 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.ConclusionsmTORi 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.

Cardiac rhabdomyoma (CR) is the most common cardiac tumor in newborns. Approximately 75% of cases are associated with tuberous sclerosis complex. Although these tumors usually spontaneously regress after 2 years of age, they can be life-threatening when they obstruct major cardiac inflow or outflow pathways. Everolimus is an inhibitor of the mammalian target of rapamycin, reducing its production of the proteins harmartin and tuberin. Everolimus has demonstrated a remarkable suppression effect in children with tuberous sclerosis complex at doses of 4.7-5.6 mg/M2/day and serum trough levels of 5-15 ng/mL. Since 2012, five case reports of neonates with CR have also reported the tumor-regressing effect of everolimus. However, the optimal dosage for neonates is still unknown. Over the past 2 years, we have deliberately used a low dose everolimus regimen (0.3-0.67 mg/M2/day) in three neonates with large CRs, in an effort to maintain serum trough levels at 3-7 ng/mL. In all three cases, the tumors regressed smoothly within 2 months. Regarding the drug's side effect of predisposing patients to infection, we observed that adenovirus pneumonia occurred in one case at 3 months of age, and chicken pox occurred in another case at 9 months of age; both recovered smoothly. Our three cases of neonatal CR demonstrate that a low-dose everolimus regimen is an effective treatment for tumor regression.

ObjectiveTo document the natural progression of fetal cardiac rhabdomyomas and evaluate the impact of prenatal sirolimus (PNS) on tumor size, cardiac complications and brain-tuber size.MethodsThis was a single-center retrospective cohort study of pregnancies with suspected fetal cardiac rhabdomyoma referred to our center from April 2013 to May 2024. Serial ultrasound and echocardiography reports were reviewed to obtain tumor characteristics, such as diameter and location, and cardiac complications, including inflow or outflow obstruction, arrhythmia and hydrops. The tumor-to-femur length (TFL) ratio was calculated to correct for fetal growth. Prenatal neurosonography reports were collected from clinical records. Pre- and postnatal brain magnetic resonance imaging (MRI) scans were reviewed by two observers who were blinded to PNS treatment. Brain-lesion severity was assessed based on the presence of subependymal nodules, the EPISTOP score, the maximum diameter of the largest subcortical tuber, the maximum diameter of the largest subependymal giant cell astrocytoma (SEGA) and the diameter of the largest lateral ventricle. Prenatal or postnatal genetic testing results were documented when available.ResultsTwenty-seven pregnancies were included in the study, seven of which received PNS. Prior to initiation of treatment, the diameter of the largest cardiac tumor at diagnosis was similar between the non-PNS and PNS groups (mean, 15.2 mm vs 14.3 mm; P = 0.72), with the left ventricle the most frequently affected location. Without treatment, rhabdomyomas grew rapidly from 20 + 0 to 27 + 6 weeks' gestation (mean, 2.58 mm/week) but growth slowed after 28 weeks (mean, 0.44 mm/week). Hydrops was reported in four cases and occurred at a mean tumor diameter of 31.7 ± 6.2 mm, mean TFL ratio of 0.68 ± 0.15 and at a mean growth rate of 4.3 ± 1.7 mm/week. In the seven women treated with PNS, treatment for > 7 days (n = 3) resulted in tumor regression and/or resolution of outflow obstruction, and a reduction in TFL ratio; however, prenatal cessation of treatment resulted in rebound growth (n = 2). Treatment for ≤ 7 days (n = 4) did not impact tumor size or resolve existing cardiac complications. Among the 12 cases that underwent prenatal MRI, the median EPISTOP score was 7 (interquartile range (IQR), 1-15) and the median largest lateral ventricle diameter was 8.9 (IQR, 7.0-9.7) mm; subcortical tubers and subependymal nodules were each identified in 67% of cases, and SEGAs were identified in 58%. Among the 13 cases that underwent postnatal MRI, the median EPISTOP score was 14 (IQR, 3-16) and the median largest lateral ventricle diameter was 7 (IQR, 7-8) mm; brain tubers were identified in 92% of cases. In cases with both pre- and postnatal MRI findings who received PNS for > 7 days (n = 3), on postnatal MRI compared with prenatal MRI, one patient showed no change in findings, one demonstrated a mild increase in the largest subcortical tuber diameter and one had no detectable brain tubers.ConclusionsEarly and sustained PNS treatment was associated with reduced cardiac rhabdomyoma size and/or resolution of cardiac complications. Rebound tumor growth was observed after discontinuation of treatment. Brain tubers appeared unchanged with PNS treatment, although the sample size was too small to draw a definitive conclusion. © 2026 The Author(s). Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.