Fetal Rhabdomyoma Research Articles

Upper Esophageal Fetal Rhabdomyoma: A Case Series of 4 Children and Review of Literature.

Objective: The aims of the present study were to provide objective evidence for identifying fetal rhabdomyoma (RM) in the upper esophagus of children, enhance clinical understanding of the diagnosis and treatment of this condition, and optimize the treatment strategy for fetal RM. Methods: The clinical medical records of 4 children with upper esophageal fetal RM were retrospectively collected, and were admitted to the Department of Otolaryngology, Head and Neck Surgery at our hospital between July 2016 and July 2022. Their clinical, histological, and therapeutic characteristics were analyzed in combination with the literature. Results: Four children diagnosed with upper esophageal tumors were included and all of them underwent resection of the upper esophageal tumor with esophageal-pharyngeal reconstruction, and 2 of them underwent prophylactic tracheotomy due to recurrent laryngeal nerve adhesion. Preoperative biopsy was performed in 2 cases (case 2 and case 4), while intraoperative frozen section analysis was conducted in the other 2 (case 1 and case 3), with pathological results consistent with fetal RM. Patients were followed up for 25 to 96 months after the surgery. So far, only 1 patient has experienced a recurrence of fetal RM and underwent a second surgical resection to remove the tumor. Conclusion: Fetal RM is a benign tumor prone to recurrence, and complete excision is the preferred optimal treatment. Clinicians need to understand and master the management algorithm for fetal RM to standardize its diagnosis and treatment.

Fetal Rhabdomyoma of the Larynx in an Adult.

Fetal Rhabdomyoma of the Larynx in an Adult.

Prenatal diagnosis of Fetal Cardiac Rhabdomyoma associated with Familial Tuberous Sclerosis

Introduction: Of the fetal heart tumors, the most common are rhabdomyomas. Its prevalence is based on 11,000 autopsies performed on children and is 0.027%.1 Its diagnosis in the prenatal stage is a challenge, however, it has been reported in the second and third trimesters of gestation.Clinical case: 19-year-old female patient with a history of presenting with lipothymia at 2 years of age. Given these manifestations, she underwent different studies, including Cranial Magnetic Resonance (MRI), which concluded as a diagnosis of Tuberous Sclerosis. In its current state of gestation, at week 33, a finding is seen that corresponds to unilateral pulmonary agenesis; at 35 weeks, liver and kidney ultrasounds are performed on the mother and fetal ultrasound. Serial ultrasound findings revealed maternal hepatic and renal hemangiolipoma. Fetal biventicular rhabdomyoma with probable transposition of the great vessels and pulmonary artery stenosis.Discussion: Rhabdomyomas are the most common fetal cardiac tumors. In our clinical case, the pregnant woman had a history of Bourneville Tuberous Sclerosis. The definitive diagnosis of maternal pathologies was made in the 3rd trimester. It was complicated to manage due to suspicion of additional heart disease of the Classical Transposition of the Great Vessels type, evidenced by imaging studies. He was subsequently referred to a more complex center for better follow-up and definitive treatment.Conclusions: Fetal rhabdomyoma diagnosed prenatally is complex, requiring serial imaging studies and multidisciplinary follow-up. It is important to monitor the hemodynamic status and any cardiovascular repercussions of the pregnant woman. In addition, fetal structures including the central nervous system, heart and renal parenchyma must be carefully evaluated to avoid significant sequelae in those affected.

Whole-Exome Sequencing Identified Two Novel Pathogenic Mutations in the PTCH1 Gene in BCNS.

Basal cell nevus syndrome (BCNS, OMIM 109400) is a familial cancer syndrome characterized by the development of numerous basal cell cancers and various other developmental abnormalities, including epidermal cysts of the skin, calcified dural folds, keratocysts of the jaw, palmar and plantar pits, ovarian fibromas, medulloblastomas, lymphomesenteric cysts, and fetal rhabdomyomas. BCNS shows autosomal dominant inheritance and is caused by mutations in the patched 1 (PTCH1) gene and the suppressor of the fused homolog (SUFU) gene. In a few cases, variants of patched 2 (PTCH2) have been found in patients who met the criteria for BCNS. In an investigation of 11 Hungarian families who fulfilled the diagnostic criteria for BCNS, whole-exome sequencing (WES) and multiplex ligation-dependent probe amplification (MLPA) identified two novel pathogenic variants (c.2994C>A; p.Cys998Ter and c.814_818del; p.Asn272SerfsTer11), one recently identified variant (c.1737_1745del p.Val580_Val582del), and three recurrent disease-causing variants of the PTCH1 gene with a diagnosis rate of 63.6%. Disease-causing variants were not found for the SUFU and PTCH2 genes. These applied methods could not fully elucidate the genetic background of all the BCNS cases that we investigated. To uncover the missing heritability of BCNS, whole-genome sequencing or an epigenetic approach might be considered in the future.

Embryonal rhabdomyosarcoma of oropharynx in a 65-year-old male with indolent clinical presentation and unusual morphology

Abstract Introduction/Objective Embryonal rhabdomyosarcoma (ERMS) is a malignant primitive mesenchymal tumor which commonly affects children and adolescence. Although head and neck area is a common location for ERMS, oropharynx is rarely involved. ERMS in adults often present with stage IV disease and show a relatively poor prognosis. Loss of heterozygosity in 11p15.5 is one of the common genetic findings in sporadic ERMS. Methods/Case Report A 65-year-old male with no significant medical history, presented with pharyngodynia and was found to have a polypoid mass originating from the pharyngeal surface of the soft palate and extends into the vallecula. He reported having this mass for a decade and having intermittent episodes of similar oropharyngeal symptoms which were usually resolved with antibiotics. Results (if a Case Study enter NA) Excisional biopsy shows a 2.4 cm polypoid mass with atypical cellular proliferation in submucosa. Tumor cells demonstrate ovoid to round nuclei and eosinophilic cytoplasm. No mitotic figure was found and Ki67 proliferation index was extremely low (<1%). Immunostains showed that the tumor cells are positive for Desmin and MyoD1. Scattered cells are positive for Myogenin. Due to the unusual clinical presentation and low proliferation activity, late onset of fetal rhabdomyoma was also considered in the differential diagnosis. The specimen was sent for chromosomal microarray which showed chromosomal gains and losses including loss of heterozygosity in chromosome 11. This finding together with cytologic atypia are mostly compatible with the diagnosis of ERMS. Post-biopsy MRI and PET-CT did not reveal any residual disease or distant metastasis. Patient has been followed up for 6 months after biopsy with no sign of recurrence. Conclusion Our case indicates that ERMS in adult can present with an indolent clinical process and low proliferating activity. Diagnosis can be challenging in this scenario. Chromosomal microarray is a useful tool to help confirm the diagnosis.

Pediatric Fetal Rhabdomyoma Representing as Acute Mastoiditis: A Case Report and Literature Review

Rhabdomyomas are rare benign tumors. Most extracardiac rhabdomyomas are found in the head and neck region, especially in the pharynx and larynx. Herein, we have described the case of a 1-year-old boy presenting with recurrent otorrhea and postauricular swelling. His symptoms were due to a mass that was histologically diagnosed as fetal rhabdomyoma (FR). Here, we report the first case of FR in the postauricular area. Clinicians should keep in mind the possibility of FR if a child presents with external auditory canal mass associated with recurrent otorrhea and signs of mastoiditis.

Echocardiographic Image Segmentation for Diagnosing Fetal Cardiac Rhabdomyoma During Pregnancy Using Deep Learning

Automated interpretation of cardiac images has the potential to change clinical practice in many ways. For example, it could make it possible for non-experts in primary care and rural settings to test the heart’s function over time. In this paper, we tested the research hypothesis that recent developments in computer vision would make it possible to create a fully automated, scalable analysis for echocardiogram interpretation, covering all of the steps from view identification and Medical Image Segmentation (MIS) to structure and function quantification and Fetal Cardiac RhabDomyomas (FCRD) detection. Even though they are rare, FCRDs are the most frequent cause of Fetal Cardiac Tumor (FCT). When it comes to diagnosing and monitoring fetuses with an injured circulatory system, imaging (particularly echocardiography (ECG)) has proven helpful in the field of fetal cardiology. Because of the severe lack of qualified and experienced sonographers, it is very challenging to diagnose Cardiac RhabDomyomas (CRD). Prior to delivery, accurate segmentation of the FC to identify structural cardiac defects is critical for minimizing the illness among newborns. To automate the process of segmenting the cardiac chamber for the CRD, we propose a novel Attention-Residual Network-based V-Net architecture (ARVNet). In this study, examinations were performed on Fetal Rhabdomyomas noted in the Right Ventricle (FRRV), Fetal Rhabdomyomas noted in the Left Ventricle (FRLV), Fetal Rhabdomyomas noted in the Right Atrium (FRRA), Fetal Rhabdomyomas noted in the Left Atrium (FRLA), Fetal Rhabdomyomas noted in the Tricuspid Valve (FRTV). Images without Rhabdomyoma mean “Normal Condition (NC)” at Selvam Hospital in Melapalayam, Tirunelveli, Tamil Nadu, India. Even with a relatively small number of datasets, the proposed technique possesses high CRD detection performance, as evidenced by the results. The results showed that the proposed model did a good job segmenting all the views, with a specificity of 99.7% and a Dice coefficient similarity of 99.8%. It also did well at finding CRDs, with an average mean accuracy of around 99.85%.

Prenatal Sirolimus Treatment for Rhabdomyomas in Tuberous Sclerosis

BackgroundIn tuberous sclerosis, most cardiac rhabdomyomas regress spontaneously. In some cases, the tumors can cause life-threatening hemodynamic compromise requiring subsequent surgical resection. The mechanistic target of rapamycin inhibitors everolimus and sirolimus have shown to be effective treatments for multiple conditions. There are four reports of off-label treatment with transplacental sirolimus for fetal rhabdomyomas due to tuberous sclerosis complex. The optimal dosing regimen is unknown. MethodsWe reviewed the medical records of all patients treated prenatally with sirolimus for rhabdomyomas. All fetuses had a clinical and molecular diagnosis of tuberous sclerosis complex (2012 Consensus Diagnostic Criteria, including a positive genetic test). Clinical history, mechanistic target of rapamycin inhibitor dosing and levels, outcome, and adverse events were reviewed after initiation of sirolimus treatment. ResultsThree fetuses were treated with maternal sirolimus. Dosing regimens and subsequent trough levels differed from 1 mg/day to 6 mg/day and <1.0 ng/mL to 12.2 ng/mL. Cardiac rhabdomyomas gradually shrank in all patients. Growth restriction was noted in one patient. No severe adverse events occurred during the treatment period. ConclusionsMaternal sirolimus appears to be a safe treatment option in prenatally detected rhabdomyomas with possible need for intervention. Follow-up visits with fetal ultrasound, echocardiography, and laboratory work should be performed weekly during the treatment period. The optimal dosing and trough level timepoints remain unclear. Based on our results, we recommend a sirolimus starting dose of at least 2 mg/m2/day, preferably 3-3.5 mg/m2/day to achieve a target trough level of 10-12 ng/mL.

A Solitary Fetal Cardiac Rhabdomyoma: A Hemodynamically Unstable Left Ventricular Tumor with Autopsy and Histopathology Findings

A Solitary Fetal Cardiac Rhabdomyoma: A Hemodynamically Unstable Left Ventricular Tumor with Autopsy and Histopathology Findings

Rare periurethral fetal rhabdomyoma presenting as a vaginal mass.

"."

Pediatric Benign Tumors With a Skeletal Muscle Component: Myogenin Expression, Diagnostic Pitfalls, and New Molecular Insights.

Benign tumors with skeletal muscle differentiation are rare and their characterization in the literature is limited. We present a series of twelve pediatric benign tumors with rhabdomyomatous differentiation including seven rhabdomyomatous mesenchymal hamartomas, four fetal rhabdomyomas, and one benign triton tumor, analyzing myogenic markers as well as clinicopathologic and molecular features. A review of the literature was also performed with an emphasis on myogenic marker expression and correlation with molecular features. Cases obtained from three tertiary pediatric hospitals were retrospectively reviewed. Eleven of twelve cases expressed myogenin in rare to greater than 15% of cells. Five of nine cases had rare to 70-80% of cells positive for MyoD1. One fetal rhabdomyoma demonstrated homozygous deletions in ZEB2. The benign triton tumor harbored a CTNNB1 mutation. Review of the literature identified 160 pediatric benign tumors with skeletal muscle differentiation of which 9 reported myogenin positivity. Myogenin and MyoD1 may be variably expressed in benign lesions with skeletal muscle differentiation. Recognition of key morphologic features remains critical to diagnose these lesions and, in rhabdomyoma, to exclude malignancy. Our series expands the knowledge of the relationship between rhabdomyoma and rhabdomyosarcoma (RMS) by identifying a shared molecular alteration in ZEB2.

Antenatalinis vaisiaus rabdomiomų ir tuberozinės sklerozės nustatymas ultragarsu ir NIPT. Klinikinis atvejis ir literatūros apžvalga

Rabdomiomos yra reta patologija, tačiau kartu ir dažniausias vaisiui atsirandantis širdies auglys, sudarantis daugiau nei 60 proc. visų vaisiaus širdies auglių. Rabdomiomų dažnis po gimimo yra apie 1 iš 40 000. Gerėjant ultragarsinio tyrimo technologinėms ir diagnostikos galimybėms, širdies rabdomiomos vis dažniau diagnozuojamos antenataliniu laikotarpiu. Jos gali būti lokalizuotos visose miokardo dalyse, tačiau dažniausiai randamos tarpskilvelinėje pertvaroje ir skilveliuose. Diagnozė galima nuo 19–20 savaitės, nors vidutiniškai nustatoma apie 28 savaitę. Apie 50–80 proc. atvejų, esant širdies rabdomiomoms, nustatoma tuberozinė sklerozė (TS) – autosominė dominantinė daugelį organų sistemų apimanti genetinė liga, pažeidžianti centrinę nervų sistemą, širdį, odą, tinklainę, inkstus ir plaučius. Širdies rabdomiomos gali būti ankstyviausias TS požymis. Konsultuojant pacientę bei šeimą, svarbu informuoti ne vien tik apie rabdomiomų sukeliamas komplikacijas ir prognozę, tačiau ir apie sąsajas su TS ir galimą jos diagnozę, pabrėžiant genetinio tyrimo svarbą. Straipsnyje aprašome retą antenataliniu laikotarpiu diagnozuotą širdies rabdomiomų ir tuberozinės sklerozės atvejį, taip pat literatūros apžvalgą nuo preatalinės diagnostikos iki paciento priežiūros gairių.

Fetal rhabdomyoma with maternal tuberous sclerosis that almost completely filled the left ventricle at an early gestational week.

Fetal rhabdomyoma with maternal tuberous sclerosis that almost completely filled the left ventricle at an early gestational week.

Rhabdomyoma in Fetus and Neonate: A Rare Cause of Heart Failure and Arrhythmia

Rhabdomyoma in Fetus and Neonate: A Rare Cause of Heart Failure and Arrhythmia

Chromosome 15q13 microduplication in a fetus with cardiac rhabdomyoma: a case report

BackgroundCopy number variation (CNV) is a complex genomic rearrangement that has been linked to a large number of human diseases. Chromosome 15q13 microduplication is a rare form of CNV, which has been proved to be associated with multiple human disorders; however, the association between chromosome 15q13 microduplication and cardiac disorders has not been fully understood.Case presentationA fetus with fetal cardiac developmental defects was detected by Color Doppler ultrasound imaging; however, further chromosomal G-banding revealed no abnormal karyotype. Then, chromosomal microarray analysis (CMA) was performed and revealed a 1.8 Mb-duplication of the chromosome 15q13.2q13.3 region containing 7 genes (TRPM1, KLF13, OTUD7A, CHRNA7, FAN1, MIR211 and RAHGAP11A). Cardiac ultrasound follow-up displayed significant enlargement of the space-occupying lesion in the fetal heart with extension of the gestational age, and the space-occupying lesion was finally pathologically diagnosed as cardiac rhabdomyoma. Next-generation sequencing revealed no mutations in the TSC1 or TSC2 gene in the fetus, the mother or the father.ConclusionsThis is the first report to demonstrate the potential association between chromosome 15q13 microduplication and fetal cardiac rhabdomyoma. It is recommended that CMA be employed in fetuses with abnormal cardiac development diagnosed by routine cardiac color Doppler ultrasound imaging for early detection of congenital genetic abnormality, which may provide valuable information for prenatal diagnostic consultation and the decision on pregnancy termination.

High expression of EZH2 as a marker for the differential diagnosis of malignant and benign myogenic tumors

Overlap in morphologic features between malignant and benign myogenic tumors, such as leiomyosarcoma (LMS) vs. leiomyoma as well as rhabdomyosarcoma (RMS) vs. rhabdomyoma, often makes differential diagnosis difficult and challenging. Here the expressions of Enhancer of Zeste Homolog 2 (EZH2), Suppressor of Zeste 12 (SUZ12), retinoblastoma protein associated protein 46 (RbAp46), Embryonic Ectoderm Development (EED) and ki-67 protein were detected by immunohistochemistry to evaluate their values in differential diagnosis. The expression of EZH2 mRNA was investigated by analyzing the Gene Expression Omnibus Datasets. The results demonstrated that EZH2 protein was detected in 81.25% (26/32) of LMS and 70.58% (36/51) of RMS, whereas none of leiomyoma (n = 16), rhabdomyoma (n = 15) and normal tissues (n = 31) showed positive immunostaining (p < 0.05). EZH2 protein was found to have a sensitivity of 91.30% and specificity of 100% in distinguishing well-differentiated LMS from cellular leiomyoma, and a sensitivity of 92.86% and specificity of 100% in distinguishing well-differentiated embryonal rhabdomyosarcoma (ERMS) from fetal rhabdomyoma. Besides, the expression of EZH2 mRNA was higher in LMS and RMS than in benign tumors (p < 0.05). The expressions of SUZ12 and RbAp46 protein were higher in RMS than in rhabdomyoma (p < 0.05). Conclusively, the high expression of EZH2 is a promising marker in distinguishing well–differentiated LMS from cellular leiomyoma, or well–differentiated ERMS from fetal rhabdomyoma, and the upregulation of EZH2 protein expression may occur at transcriptional level.

Genital Rhabdomyoma of the Lower Female Genital Tract: A Study of 12 Cases With Molecular Cytogenetic Findings.

Of the subtypes of extracardiac rhabdomyoma, genital rhabdomyoma is most uncommon and is occasionally classified as fetal rhabdomyoma due to morphologic similarities. In contrast to other forms of rhabdomyoma, the genetic alterations of genital rhabdomyoma are unknown. The clinical and pathologic findings in 12 cases were reviewed and 2 cases were processed for whole genome copy number analysis by single nucleotide polymorphism microarray. Twelve patients ranged in age from 43 to 65 yr (mean: 50.2 yr). Nine tumors arose in the vagina and 3 in the cervix, with their greatest dimension spanning 0.9 to 1.7 cm (mean: 1.4 cm). Follow-up was available for 7 patients and none had evidence of recurrence (67-263 mo, mean: 153.7 mo). No somatic copy number alterations, particularly involving genes in Hedgehog signaling, were identified by microarray. Although genital rhabdomyoma has sufficiently unique clinicopathologic characteristics including age of onset and organs of involvement to distinguish it from fetal rhabdomyoma, the genetic mechanisms underlying its development are unclear given the lack of copy number variation and loss of heterozygosity by single nucleotide polymorphism microarray.

MATERNAL SIROLIMUS THERAPY FOR GIANT OBSTRUCTIVE FETAL CARDIAC RHABDOMYOMAS

Cardiac rhabdomyoma is the most common fetal cardiac tumor. Treatment with mTOR inhibitors have had success in postnatal patients with tuberous sclerosis complex (TSC). No reports exist using maternal-sirolimus therapy (MST) for fetal rhabdomyoma. A fetus with progressive giant cardiac rhabdomyomas

Abstract A20: A mouse model of postnatal Hedgehog-driven muscle tumors shows a common progenitor that relies on loss of Tp53 expression for malignant transformation

Abstract Introduction: Patients with nevoid basal cell carcinoma syndrome (NBCCS), a condition that presents with activating mutations in the Hedgehog pathway (HH), have increased risk of developing skeletal muscle tumors: fetal rhabdomyomas (FRMs) and translocation-negative rhabdomyosarcomas (RMS), that both appear with same age/gender and location distribution but have very different behavior. TP53 mutations have been related to RMS. The purpose of our study is to test whether loss of Tp53 in Nestin+ progenitors affects HH-driven muscle tumor phenotype. Experimental Design: We generated a mouse model (Nestin-FlpoER; R26MASTR/SMOM2-YFP ;Tp53+/+/Tp53FL/+/Tp53FL/FL) using the MASTR allele engineered in our lab, that upon tamoxifen (Tm) administration allows for Flp-mediated induction of a GFP-cre fusion protein expression, so that mutant cells and their progeny can subsequently be identified by the continuous nuclear GFP labelling. Upon cre expression, R26SMOM2-YFP allele is recombined in mutant cells conferring constitutive HH pathway activation and neither (Tp53+/+), one (Tp53FL/+) or both (Tp53FL/FL) copies of Tp53 are deleted. Tm was injected subcutaneously at birth (P0) at 200 ug/g. Mice were sacrificed when unwell or at 400 days and tumors were processed for histologic analysis. Results: Tp53+/+, Tp53FL/+ and Tp53FL/FL groups were analyzed: incidence of muscle tumors (desmin+; myogenin+) was 33%/63%/6%, respectively. Median age at the time of death from muscle tumor was 150 days in the Tp53+/+, 124 days in Tp53FL/+, and 88 days in Tp53FL/FL group with a male-to-female ratio of 1.8/1 amongst all groups. In the Tp53+/+ group, all tumors were FRMs. In the Tp53FL/+ and Tp53FL/FL groups, tumors showed increasing degrees of undifferentiation and proliferation (Ki67+) in mutant cells (GFP+) acquiring a more aggressive phenotype compatible with RMS histology. Within these tumors, different degrees of differentiating cells (mostly GFP-) were also seen. Tumors arose in proximal limbs, chest, and abdominal wall regions and interestingly tumor genotype seemed to correlate with a craniocaudal distribution: Tp53+/+ tumors located mostly in hind-limbs and Tp53FL/+ and Tp53FL/FL located more cranially. The only other tumor type that arose was medulloblastoma: 27% and 63% of all tumors within the Tp53FL/+ and Tp53FL/FL groups, respectively. Complete loss of Tp53 (Tp53FL/FL) had inferior muscle tumor incidence compared to Tp53FL/+ mainly due to earlier onset of medulloblastoma. Interestingly, within this group, also 12% of mice (n=4) died from infectious-related complications within the genitourinary region, suggesting an underlying developmental defect. Conclusion: We present the first murine model of both FRM and RMS in which Tp53 loss is required for malignant transformation following HH pathway activation in postnatal progenitors. Citation Format: Estibaliz Lopez Rodrigo, Alexandra Joyner. A mouse model of postnatal Hedgehog-driven muscle tumors shows a common progenitor that relies on loss of Tp53 expression for malignant transformation [abstract]. In: Proceedings of the AACR Conference on Advances in Sarcomas: From Basic Science to Clinical Translation; May 16-19, 2017; Philadelphia, PA. Philadelphia (PA): AACR; Clin Cancer Res 2018;24(2_Suppl):Abstract nr A20.

Everolimus treatment of a fetal intracardiac rhabdomyoma not associated with the tuberous sclerosis complex: a case report

Abstract Introduction Benign cardiac rhabdomyomas are the most common cardiac tumors in fetuses and children. They are most often located in the ventricles and may disturb myocardial function, the severity correlating with location and size of the tumor. Rhabdomyomas are commonly associated with the tuberous sclerosis complex (TSC) and are the first clinical manifestation in 50–80% of the cases [Isaacs H Jr. Fetal and neonatal cardiac tumors. Pediatr Cardiol. 2004;25:252–73, Colosi E, Russo C, Macaluso G, Musone R, Catalano C. Sonographic diagnosis of fetal cardiac rhabdomyomas and cerebral tubers: a case report of prenatal tuberous sclerosis. J Prenat Med. 2013;7:51–5]. Several authors have documented the sensitivity of TSC-associated rhabdomyomas to everolimus treatment [Hoshal SG, Samuel BP, Schneider JR, Mammen L, Vettukattil JJ. Regression of massive cardiac rhabdomyoma on everolimus therapy. Pediatr Int. 2016;58:397–9, Mlczoch E, Hanslik A, Luckner D, Kitzmüller E, Prayer D, Michel-Behnke I. Prenatal diagnosis of giant cardiac rhabdomyoma in tuberous sclerosis complex: a new therapeutic option with everolimus. Ultrasound Obstet Gynecol. 2015;45:618–21, Tiberio D, Franz DN, Phillips JR. Regression of a cardiac rhabdomyoma in a patient receiving everolimus. Pediatrics. 2011;127:e1335–7]. The present study provides convincing evidence of successful everolimus therapy in a newborn without the TSC complex. Case presentation A cardiac rhabdomyoma measuring 35 × 28 × 24 mm was seen in a fetus in pre- and postnatal echocardiography. There was no family history for TSC and amniocentesis showed no mutations in the TSC1/TSC2 genes. Off-label treatment with everolimus began when the neonate was 11 days old and was discontinued when the infant was 11 months old after echocardiography showed marked regression of tumor size and improvement of the tricuspid valve insufficiency. Echocardiography 3 months later showed an increase in size to 13.2 × 9 mm, so that everolimus therapy was re-instated. The next echocardiography, 10 weeks later, showed renewed regression of tumor size and a residual moderate tricuspid valve insufficiency under everolimus therapy. Discussion The present report of a rhabdomyoma in a newborn without an association with TSC is of interest because it identifies a treatment effect of everolimus. A medical approach in patients with cardiac decompensation due to intracardiac rhabdomyomas offers an attractive alternative to surgery.