RESUMO
Tuberous sclerosis complex is associated with the occurrence of cardiac rhabdomyomas that may result in life-threatening arrhythmia unresponsive to standard antiarrhythmic therapy. We report the case of an infant with multiple cardiac rhabdomyomas who developed severe refractory supraventricular tachycardia (SVT) that was successfully treated with everolimus. Pharmacological mTOR inhibition rapidly improved arrhythmia within few weeks after treatment initiation and correlated with a reduction in tumor size. Intermediate attempts to discontinue everolimus resulted in rhabdomyoma size rebound and recurrence of arrhythmic episodes, which resolved on resumption of therapy. While everolimus treatment led to successful control of arrhythmia in the first years of life, episodes of SVT reoccurred at the age of 6 years. Electrophysiologic testing confirmed an accessory pathway that was successfully ablated, resulting in freedom of arrhythmic events. In summary we present an in-depth evaluation of the long-term use of everolimus in a child with TSC-associated SVT, including the correlation between drug use and arrhythmia outcome. This case report provides important information on the safety and efficacy of an mTOR inhibitor for the treatment of a potentially life-threatening cardiac disease manifestation in TSC for which the optimal treatment strategy is still not well established.
Assuntos
Neoplasias Cardíacas , Rabdomioma , Esclerose Tuberosa , Lactente , Criança , Humanos , Everolimo/uso terapêutico , Esclerose Tuberosa/complicações , Esclerose Tuberosa/tratamento farmacológico , Rabdomioma/complicações , Rabdomioma/tratamento farmacológico , Rabdomioma/patologia , Arritmias Cardíacas/complicações , Arritmias Cardíacas/tratamento farmacológico , Serina-Treonina Quinases TOR , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/tratamento farmacológico , Neoplasias Cardíacas/patologiaRESUMO
A 2-month-old male with surgically resected sacral chordoma presented with multiple hypopigmented macules showing characteristic patchy, sharply demarcated areas of pigment network on dermoscopy. These dermoscopic findings were suggestive of the ash-leaf macules of tuberous sclerosis over other common hypopigmented macules in neonates. Chordomas presenting in early childhood in the sacral location have been reported as a rare manifestation of tuberous sclerosis complex. The combination of these findings led to a diagnosis of tuberous sclerosis, confirmed with the finding of a heterozygous TSC2 gene deletion; treatment with sirolimus resulted in regression of cardiac rhabdomyomas and hypopigmented macules.
Assuntos
Cordoma , Dermoscopia , Hipopigmentação , Sacro , Proteína 2 do Complexo Esclerose Tuberosa , Esclerose Tuberosa , Humanos , Esclerose Tuberosa/genética , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/complicações , Masculino , Hipopigmentação/genética , Hipopigmentação/diagnóstico , Lactente , Sacro/anormalidades , Sacro/patologia , Cordoma/genética , Cordoma/diagnóstico , Cordoma/patologia , Proteína 2 do Complexo Esclerose Tuberosa/genética , Neoplasias da Coluna Vertebral/genética , Neoplasias da Coluna Vertebral/diagnóstico , Neoplasias da Coluna Vertebral/patologiaRESUMO
AIMS: The study aims to evaluate the genetic and clinical outcomes of fetal cardiac rhabdomyoma in our tertiary center. METHODS: Data of cases with cardiac rhabdomyoma detected by fetal echocardiography during antenatal follow-up were analyzed retrospectively. RESULTS: Nine cases were included in the study. The incidence of cardiac rhabdomyoma was 0.003%. The median fetal diagnosis time was 26th weeks, the most common location was the LV. There was no hemodynamic disorder requiring cardiovascular intervention in any of the cases. Of the eight genetically tested cases, four were tuberous sclerosis complex (TSC) gene-negative, one hereditary TSC2, one de novo TSC1, and two de novo TSC2 gene mutants. Postnatal first-year survival rate of the cases was 88.8%. CONCLUSIONS: Cardiac rhabdomyoma is a rare fetal and pediatric pathology that generally is a remarkable finding in the clinical process of TSC. Therefore, cases should be evaluated multisystemically and genetic counseling should be given to the family.
Assuntos
Doenças Fetais , Neoplasias Cardíacas , Rabdomioma , Esclerose Tuberosa , Criança , Gravidez , Humanos , Feminino , Rabdomioma/diagnóstico por imagem , Rabdomioma/genética , Estudos Retrospectivos , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/genética , Esclerose Tuberosa/complicações , Esclerose Tuberosa/genética , Feto/patologia , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/genéticaRESUMO
This study aimed to compare the clinical characteristics and courses of pediatric patients with cardiac tumors in nonoperative and operative groups to help guide treatment decisions. We reviewed the medical records of patients diagnosed with primary pediatric cardiac tumors at our institution between 2003 and 2020. Demographic data, clinical characteristics, and follow-up data between the operation and nonoperation groups were compared. A total of 56 patients were included in the study. Thirteen patients underwent surgery. The median age was 1.4 months (range, 1 to 18 years). The patients in the operation group had more frequent symptoms or signs, such as desaturation, respiratory difficulty, murmur, a higher mass area/chamber area (MC) ratio, decreased ventricular contractility, and significant ventricular outflow tract obstruction (VOTO). An MC ratio of 0.568 was the cutoff value for differentiating patients with symptoms or signs of heart failure and decreased ventricular contractility. At the last follow-up, all patients had good ventricular contractility except one patient in the operative group with fibroma. In the non-operative group, rhabdomyomas often regressed spontaneously, while fibromas often increased in size. Two patients in the nonoperative group died. In the operative group, there was no early or late mortality or tumor recurrence. In this study, patients had good outcomes with or without surgery, even when the tumor was large, or surgery was performed in early infancy.
RESUMO
We report the case of a female neonate admitted to the neonatal ICU with a rapid, narrow-complex tachyarrhythmia determined to be supraventricular tachycardia. Multimodality imaging and genetic testing confirmed a diagnosis of tuberous sclerosis complex with multiple cardiac rhabdomyomas. At 13 days of age, the patient was readmitted, exhibiting recurrent supraventricular tachycardia non-responsive to first-line treatment. Management required triple-drug therapy, whereafter the patient remained stable without recurrences. This is a rare report of supraventricular tachycardia in a functionally normal heart with the occurrence of supraventricular tachycardia due to structural abnormalities, with the possibility of multiple concealed accessory pathways.
RESUMO
Rhabdomyoma of the orbit is a rare tumor with very few cases reported in the literature. We herein describe a 5-year-old boy who presented to us with a deviation of his left eye. Magnetic Resonance Imaging (MRI) showed a well-defined homogeneous intraconal mass in the superomedial aspect compressing the optic nerve. An excision biopsy was performed and the diagnosis of rhabdomyoma was confirmed on histopathology and immunohistochemistry with a coincidental finding of Trichinella spiralis larvae within the excised specimen. We report this phenomenon in two rare diseases with a predilection for striated muscle occurring simultaneously in a single patient.
Assuntos
Imageamento por Ressonância Magnética , Neoplasias Orbitárias , Rabdomioma , Triquinelose , Humanos , Masculino , Rabdomioma/cirurgia , Rabdomioma/diagnóstico , Rabdomioma/diagnóstico por imagem , Triquinelose/diagnóstico , Pré-Escolar , Neoplasias Orbitárias/diagnóstico por imagem , Neoplasias Orbitárias/patologia , Neoplasias Orbitárias/cirurgia , Neoplasias Orbitárias/diagnóstico , Animais , Trichinella spiralis/isolamento & purificação , Infecções Oculares Parasitárias/diagnóstico , Infecções Oculares Parasitárias/cirurgia , Infecções Oculares Parasitárias/parasitologiaRESUMO
Sudden death in infants remains a common and poorly understood cause of childhood mortality in the USA. Pediatric cardiac tumors, although rare, may underlie some cases of unexplained sudden infant death. Autopsy is a crucial diagnostic step in these cases, as both gross and microscopic examination of the heart may uncover occult cardiac tumors. Rhabdomyomas are the most common cardiac tumors in childhood and may result in arrythmia and sudden death. We present a case of sudden death in a healthy 5-month-old infant which initially appeared "SIDS-like" until thorough histological analysis revealed an underlying cardiac rhabdomyoma. The case is of particular importance in that the gross examination of the heart was considered completely normal, and the tumor only involved certain portions of the heart microscopically. Had a single random section of myocardium been the only heart section examined microscopically, the diagnosis might have been missed. This case emphasizes the importance of thorough microscopic examination in infant cases, especially in cases where the heart appears grossly normal.
RESUMO
OBJECTIVE: To demonstrate the potential utility of dedicated neurosonography for the diagnosis of fetal brain involvement in tuberous sclerosis complex. METHODS: This was a multicenter retrospective study of fetuses at high risk for tuberous sclerosis complex. Dedicated neurosonographic, fetal magnetic resonance imaging (MRI) and postnatal reports were reviewed. Data collected included reason for referral, gestational age at which cardiac rhabdomyoma was first suspected and final number of cardiac rhabdomyomas detected on dedicated imaging. We searched for tuberous sclerosis complex-related brain involvement, defined as the presence of one or more of the following findings: white-matter lesions; subependymal nodules; cortical/subcortical tubers; and subependymal giant-cell astrocytoma. RESULTS: We included 20 patients at high risk of tuberous sclerosis complex, of whom 19 were referred for the presence of cardiac rhabdomyomas and one for a deletion in chromosome 16 involving the tuberous sclerosis complex gene locus. Cardiac rhabdomyomas were diagnosed at a mean gestational age of 27 + 2 weeks (range, 16 + 0 to 36 + 3 weeks) and the mean number of cardiac rhabdomyomas per patient was 4 (range, 1-10). Brain involvement was present in 15 fetuses, in 13 of which the disease was confirmed in one or more of the following ways: chromosomal microarray analysis (n = 1), exome sequencing (n = 7), autopsy (n = 4), clinical tuberous sclerosis complex in the newborn (n = 4) and a sibling diagnosed with clinical tuberous sclerosis complex (n = 1). In two cases, the disease could not be confirmed: one was lost to follow-up and autopsy, following termination of pregnancy, was not performed in the other. Among the five cases without brain findings, tuberous sclerosis complex was confirmed in three by exome sequencing (n = 2) and/or autopsy findings (n = 2). The two remaining cases had normal exome sequencing; one case had five cardiac rhabdomyomas, which was a highly suggestive finding, while in the final case, the autopsy was considered normal, representing the only false-positive case in our cohort. CONCLUSIONS: Contrary to current literature, dedicated neurosonography appears to be effective in the diagnosis of brain involvement in fetuses at risk of tuberous sclerosis complex and should be used as the first-line approach. Although the number of cases in which MRI was performed was small, it seems that, in the presence of ultrasound findings, the added value of MRI is low. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.
Assuntos
Neoplasias Cardíacas , Rabdomioma , Esclerose Tuberosa , Gravidez , Recém-Nascido , Feminino , Humanos , Lactente , Esclerose Tuberosa/genética , Rabdomioma/diagnóstico por imagem , Rabdomioma/patologia , Estudos Retrospectivos , Encéfalo/diagnóstico por imagem , Encéfalo/patologia , Feto/diagnóstico por imagem , Feto/patologia , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/genéticaRESUMO
BACKGROUND: Despite its rare incidence of 1/40,000, fetal cardiac rhabdomyoma (CR) represents the prevailing type of benign cardiac fetal tumors, which commonly affects the ventricles. Fetal CRs rarely occur in the right atrium. Thus, the presentation of atrial fibrillation and premature atrial contractions (PAC) due to a solitary cardiac rhabdomyoma is an extremely rare scenario. Our literature review found that only 2% (1 out of 61) of rhabdomyoma cases were found in the right atrium. The majority of fetal cardiac rhabdomyomas are associated with tuberous sclerosis complex (TSC). CASE PRESENTATION: A 7-day-old male neonate presented with arrhythmias and an atrial mass for further evaluation. Echocardiography revealed a hyperechoic, round, uniform right atrial mass (25 mm). An abdominal and testicular ultrasound showed multiple thin-walled cortical cysts in both kidneys and a scrotal hydrocele, respectively. His laboratory workup was insignificant except for hypomagnesemia. Electrocardiography revealed junctional rhythm and PACs with wave distortions. A brain magnetic resonance imaging scan revealed multiple subependymal lesions on the frontal and occipital horns of the lateral ventricles. These findings (Fig. 1), along with a family history of TSC, confirmed the diagnosis of TSC with associated CR. The patient was treated symptomatically with an anti-convulsant and monitored with regular follow-ups. Surgical resection was not required. CONCLUSION: Despite CR's predominance in the ventricles, a diagnosis of rhabdomyoma should be kept in mind in the presence of a solitary atrial mass and PACs. Physicians should evaluate systemic findings related to TSC and provide appropriate follow-up and family screening. Surgical resection is not always required, and symptom management can be achieved through medical treatment alone.
Assuntos
Neoplasias Cardíacas , Rabdomioma , Esclerose Tuberosa , Lactente , Recém-Nascido , Humanos , Masculino , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/patologia , Rabdomioma/complicações , Rabdomioma/diagnóstico por imagem , Ecocardiografia/métodos , Eletrocardiografia , Átrios do Coração , Arritmias Cardíacas/complicações , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/diagnóstico por imagem , Neoplasias Cardíacas/cirurgiaRESUMO
AIM: To investigate the complete clinical spectrum of individuals with paediatric tuberous sclerosis complex in southern Sweden and explore changes over time. METHODS: In this retrospective observational study, 52 individuals aged up to 18 years at the study start were followed-up at regional hospitals and centres for habilitation from 2000 to 2020. RESULTS: Cardiac rhabdomyoma was detected prenatally/neonatally in 69.2% of the subjects born during the latest ten years of the study period. Epilepsy was diagnosed in 82.7% of subjects, and 10 (19%) were treated with everolimus, mainly (80%) for a neurological indication. Renal cysts were detected in 53%, angiomyolipomas in 47%, astrocytic hamartomas in 28% of the individuals. There was a paucity of standardized follow-up of cardiac, renal, and ophthalmological manifestations and no structured transition to adult care. CONCLUSION: Our in-depth analysis shows a clear shift towards an earlier diagnosis of tuberous sclerosis complex in the latter part of the study period, where more than 60% of cases showed evidence of this condition already in utero due to the presence of a cardiac rhabdomyoma. This allows for preventive treatment of epilepsy with vigabatrin and early intervention with everolimus for potential mitigation of other symptoms of tuberous sclerosis complex.
Assuntos
Neoplasias Cardíacas , Rabdomioma , Esclerose Tuberosa , Adulto , Criança , Humanos , Idoso , Esclerose Tuberosa/complicações , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/terapia , Everolimo/uso terapêutico , Rabdomioma/diagnóstico , Rabdomioma/terapia , Suécia/epidemiologia , Intervenção Educacional Precoce , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/terapiaRESUMO
The cytomorphological features of benign mesenchymal tumours of the tongue have rarely been reported. Herein, we present the cytomorphological features of adult-type rhabdomyoma, which occurred in the tongue of a female patient, and granular cell tumour (GCT), which occurred in the tongue of a male patient; both patients were in their mid-50s. The cytological features of the adult-type rhabdomyoma case included large polygonal to ovoid cells with abundant and granular cytoplasm with predominantly peripherally located, uniform, round to oval nuclei and small nucleoli. Cross-striation and crystalline intracytoplasmic structures were not seen. The cytological features of the GCT case included large cells with abundant granular pale cytoplasm, small round nuclei and small distinct nucleoli. The cytological differential diagnoses of these tumours overlap; thus, the cytological findings of the different entities included in their differential diagnoses are discussed.
Assuntos
Tumor de Células Granulares , Rabdomioma , Neoplasias da Língua , Humanos , Masculino , Adulto , Feminino , Neoplasias da Língua/diagnóstico , Neoplasias da Língua/patologia , Rabdomioma/diagnóstico , Rabdomioma/patologia , Tumor de Células Granulares/diagnóstico , Tumor de Células Granulares/patologia , Núcleo Celular/patologia , Língua/patologiaRESUMO
Everolimus is a mTOR inhibitor that has been increasingly used in high-risk cardiac rhabdomyomas in recent years. There are questions regarding the optimal dose and duration of therapy with everolimus for cardiac rhabdomyomas. The purpose of this study was to examine retrospectively the dosage-efficacy relationship in seven babies diagnosed with rhabdomyoma treated with different everolimus dose regimens retrospectively. Cardiac rhabdomyoma diagnosis was made in six of seven babies during the prenatal period. Indication of everolimus was an obstruction in six patients and supraventricular tachycardia which is resistant to antiarrhythmic drugs in the remaining one patient. The median age was 8 days (range; 2-105 days) at the time of starting everolimus. It was administered at a dose of 0.25 mg twice a day for two days a week in four patients; 0.1 mg/day in two and 0.4 mg/day in one patient. Serum everolimus level was kept between 5 and 15 ng/ml. All seven cases showed significant regression of cardiac rhabdomyoma within four weeks, and supraventricular tachycardia was controlled in two weeks after everolimus administration.This study demonstrates that everolimus was effective in accelerating regression of the cardiac rhabdomyoma. Dose with 2 × 0,25 mg/day, 2 days a week, seems appropriate. However, lower doses such as 0.1 mg/day are also effective. But dose adjustment should be made according to serum level monitoring.
Assuntos
Antineoplásicos , Neoplasias Cardíacas , Rabdomioma , Taquicardia Supraventricular , Lactente , Recém-Nascido , Gravidez , Feminino , Humanos , Everolimo/uso terapêutico , Antineoplásicos/uso terapêutico , Rabdomioma/diagnóstico por imagem , Rabdomioma/tratamento farmacológico , Estudos Retrospectivos , Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/tratamento farmacológico , Taquicardia Supraventricular/tratamento farmacológicoRESUMO
Tuberous sclerosis complex (TSC) is a multisystem disorder characterized by seizures, neuropsychiatric disorders, and tumors of the heart, brain, skin, lungs, and kidneys. We present a three-year follow-up of a patient with TSC-associated rhabdomyoma detected in utero. Genetic examination of the fetus and the parents revealed a de novo variant in the TSC2 gene (c.3037delG, p.Asp1013IlefsTer3). Oral everolimus was initiated in the pregnant mother to regress the fetal tumor, which was successful. To the best of our knowledge, there is very little information regarding the use of everolimus therapy during pregnancy. West-syndrome was diagnosed when the proband was four months old. The symptoms were well-manageable, however temporarily. Therapy-resistant focal seizures were frequent. The patient had good vitals and was under regular cardiological control, showed a balanced circulation, and did not require any medication. Subependymal giant cell astrocytoma (SEGA) identified by regular neuroimaging examinations remained unchanged, which may be a consequence of early intrauterine treatment. Early detection of the pathogenic TSC2 variant, followed by in utero administration of everolimus and early vigabatrin therapy, allowed the detection of a milder developmental delay of the proband. Our study emphasizes how early genetic testing and management of epilepsy are pivotal for proper neurodevelopmental impacts and therapeutic strategies.
Assuntos
Everolimo , Rabdomioma , Feminino , Gravidez , Humanos , Lactente , Everolimo/uso terapêutico , Seguimentos , Rabdomioma/tratamento farmacológico , Rabdomioma/genética , Inibidores de MTOR , Feto , Mães , Serina-Treonina Quinases TOR/genéticaRESUMO
Tuberous sclerosis complex (TSC) is a multisystem genetic disorder characterized by the growth of numerous noncancerous tumors in many parts of the body. It is highly variable in clinical presentations, including a wide range of cognitive, behavioral, and psychiatric manifestations. Of all the possible manifestations, cognitive and behavioral problems are the greatest concern to parents and physicians. In this study, two fetuses were identified to have rhabdomyomas by prenatal ultrasound. Carefully inquired familial medical history revealed other symptoms of TSC such as skin lesions or psychiatric problems in family members in the two families. Both fetuses and family members with positive clinical symptoms were confirmed to carry a familial TSC2 variant. Our study indicates that fetal echocardiography is not just the evaluation of the fetal heart. When fetal cardiac rhabdomyomas are diagnosed, a full family medical history and clinical assessment for TSC in family members should be undertaken.
RESUMO
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterised by the presence of benign tumours throughout multiple organs including the brain, kidneys, heart, liver, eyes, lungs and skin, in addition to neurological and neuropsychiatric complications. Intracardiac tumour (rhabdomyoma), neurodevelopmental disorders (NDDs) and kidney disorders (KD) are common manifestations of TSC and have been linked with TSC1 and TSC2 loss-of-function mutations independently, but the dynamic relationship between these organ manifestations remains unexplored. Therefore, this study aims to characterise the nature of the relationship specifically between these three organs' manifestations in TSC1 and TSC2 mutation patients. METHODS: Clinical data gathered from TSC patients across South Wales registered with Cardiff and Vale University Health Board (CAV UHB) between 1990 and 2020 were analysed retrospectively to evaluate abnormalities in the heart, brain and kidney development. TSC-related abnormalities such as tumour prevalence, location and size were analysed for each organ in addition to neuropsychiatric involvement and were compared between TSC1 and TSC2 mutant genotypes. Lastly, statistical co-occurrence between organ manifestations co-morbidity was quantified, and trajectories of disease progression throughout organs were modelled. RESULTS: This study found a significantly greater mutational frequency at the TSC2 locus in the cohort in comparison to TSC1. An equal proportion of male and female patients were observed in this group and by meta-analysis of previous studies. No significant difference in characterisation of heart involvement was observed between TSC1 and TSC2 patients. Brain involvement was seen with increased severity in TSC2 patients, characterised by a greater prevalence of cortical tubers and communication disorders. Renal pathology was further enhanced in TSC2 patients, marked by increased bilateral angiomyolipoma prevalence. Furthermore, co-occurrence of NDDs and KDs was the most positively correlated out of investigated manifestations, regardless of genotype. Analysis of disease trajectories revealed a more diverse clinical outcome for TSC2 patients: however, a chronological association of rhabdomyoma, NDD and KD was most frequently observed for TSC1 patients. CONCLUSIONS: This study marks the first empirical investigation of the co-morbidity between congenital heart defects (CHD), NDDs, and KDs in TSC1 and TSC2 patients. This remains a unique first step towards the characterisation of the dynamic role between genetics, heart function, brain function and kidney function during the early development in the context of TSC.
Assuntos
Rabdomioma , Esclerose Tuberosa , Análise Mutacional de DNA , Feminino , Humanos , Masculino , Mutação , Estudos Retrospectivos , Esclerose Tuberosa/complicações , Esclerose Tuberosa/epidemiologia , Esclerose Tuberosa/genética , Proteína 1 do Complexo Esclerose Tuberosa/genética , Proteína 2 do Complexo Esclerose Tuberosa/genética , Proteínas Supressoras de Tumor/genéticaRESUMO
We present a 29-month-old male patient in follow-up due to pyelocaliceal dilation with a prostatic nodule incidentally found during ultrasound evaluation. Cysto video endoscopy was performed and a prostate biopsy, obtained. Microscopic evaluation showed a haphazardly distributed population of muscular cells with cross striations without evidence of mitosis or necrosis. Immunohistochemistry was positive for myogenin and desmin and negative for smooth muscle actin. Next generation sequencing was performed without finding any pathogenic variant or fusion in the tumor RNA. The patient received no further treatment, remained asymptomatic and continues in follow up, 3 years after initial diagnosis. We report a case of prostate rhabdomyoma in a toddler, an exceptional location that raises concern about differential diagnosis with its malignant counterpart, rhabdomyosarcoma, especially at this age.
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Rabdomioma , Rabdomiossarcoma , Biópsia , Pré-Escolar , Diagnóstico Diferencial , Humanos , Imuno-Histoquímica , Masculino , Próstata/patologia , Rabdomioma/diagnóstico , Rabdomioma/genética , Rabdomioma/patologia , Rabdomiossarcoma/diagnóstico , Rabdomiossarcoma/genéticaRESUMO
We describe a unique case of a pregnancy with fetal Prader-Willi syndrome (PWS). A 40-year-old pregnant woman prenatally presented with polyhydramnios, decreased fetal movements, fetal growth restriction with normal Doppler study, and fetal cardiac rhabdomyoma, a possible new sonographic markers for PWS, at 31 weeks of gestation. The newborn had hypotonia and feeding difficulty. Molecular genetic study showed a normal copy number of the 15q11.2-q13.1 chromosomal region but hypermethylation pattern of this region, indicating PWS. Other than the combination of polyhydramnios, fetal growth restriction, and decreased fetal movements, cardiac rhabdomyoma was detected and possibly associated with PWS. In conclusion, PWS should be listed in differential diagnoses if fetuses having the following perinatal factors: polyhydramnios, decreased fetal movements, and growth restriction. Finally, cardiac rhabdomyoma, observed in this case, might possibly be associated with PWS, although further studies to confirm are needed.
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Poli-Hidrâmnios , Síndrome de Prader-Willi , Rabdomioma , Adulto , Cromossomos Humanos Par 15 , Feminino , Retardo do Crescimento Fetal , Humanos , Recém-Nascido , Poli-Hidrâmnios/diagnóstico por imagem , Síndrome de Prader-Willi/diagnóstico por imagem , Síndrome de Prader-Willi/genética , Gravidez , Rabdomioma/diagnóstico por imagem , Ultrassonografia Pré-NatalRESUMO
BACKGROUND: Sirolimus constitutes a safe and effective treatment for cardiac manifestations of tuberous sclerosis complex (TSC) in children but only four cases describing prenatal treatment of rhabdomyomas with mTOR inhibitors have been published. CASE: In this case, sirolimus was initiated at 26 weeks´ gestation in a pregnant woman with TSC with a fetus with a large rabdomyoma conditioning severe arrythmia. There was a significant reduction in the tumor size with ongoing treatment and a partial reversion of the arrythmia. CONCLUSION: m-TOR inhibitors can be considered for severe cases of fetal rhabdomyomas with poor prognosis given its potencial benefits.
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Neoplasias Cardíacas , Rabdomioma , Esclerose Tuberosa , Criança , Feminino , Humanos , Gravidez , Arritmias Cardíacas , Feto/patologia , Neoplasias Cardíacas/tratamento farmacológico , Neoplasias Cardíacas/patologia , Rabdomioma/tratamento farmacológico , Rabdomioma/patologia , Sirolimo/uso terapêutico , Esclerose Tuberosa/complicações , Esclerose Tuberosa/tratamento farmacológicoRESUMO
Cardiac rhabdomyoma is the most common primary cardiac tumour and is considered to be a hamartoma of developing embryonic cardiac myocytes. It is commonly seen in tuberous sclerosis. The size and location of the tumour is the surrogate determinant of the risk of haemodynamic compromise. Pericardial rhabdomyoma is very rare and tends to follow the inherent natural history of spontaneous regression. We present cases of two foetuses diagnosed with large pericardial rhabdomyoma and no haemodynamic consequences.
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Doenças Fetais , Neoplasias Cardíacas , Rabdomioma , Esclerose Tuberosa , Feminino , Humanos , Gravidez , Rabdomioma/diagnóstico por imagem , Doenças Fetais/diagnóstico , Neoplasias Cardíacas/diagnóstico por imagem , Diagnóstico Pré-NatalRESUMO
OBJECTIVES: To investigate the efficacy and safety of sirolimus in the treatment of cardiac rhabdomyomas associated with tuberous sclerosis complex and the specific benefits in different subgroups. STUDY DESIGN: The study was a prospective cohort and self-controlled case series study. Based on the prevalence of cardiac rhabdomyoma at different ages, we estimated the natural tumor disappearance rate. The subgroup analysis was done by Cox regression. Self-controlled case series method was used to assess the magnitude and duration of the drug effect. Adverse events were described. RESULTS: A total of 217 patients were included in the cohort study. Tumor disappearance rate was higher in younger age groups (hazard ratio = 0.99, P = .027) and female patients (hazard ratio = 2.08, P = .015). The age-adjusted incidence ratio showed that the disappearance of rhabdomyomas between 3 and 6 months was more related to sirolimus. Adverse events were observed 60 times in 42 of 217 children, mainly stomatitis. CONCLUSIONS: Sirolimus can increase the disappearance rate of cardiac rhabdomyoma in the tuberous sclerosis complex population. Efficacy varies by sex and age: female and younger patients have higher tumor disappearance rate. Sirolimus is well-tolerated.