Resultados Perinatais e Seguimento em Longo Prazo de Tumores Cardíacos Fetais: Estudo de Coorte Histórica de 30 Anos / Perinatal Results and Long-Term Follow-Up of Fetal Cardiac Tumors: A 30-Year Historical Cohort Study

Resumo Fundamento: Seguimento de coorte retrospectiva de 30 anos que se aproxima da história natural dos tumores cardíacos diagnosticados no feto uma vez que nenhum caso foi submetido à interrupção da gestação. Objetivo: Avaliar a morbidade e mortalidade perinatal e em longo prazo em fetos com diagnóstico de tumor cardíaco. Como objetivo secundário avaliar os fatores que influenciaram os resultados perinatais e pós-natais. Método: Estudo de coorte retrospectiva envolvendo 74 gestantes com diagnóstico ecocardiográfico fetal de tumor cardíaco acompanhadas em dois serviços de referência no período de maio de 1991 a novembro de 2021. Foi realizada análise descritiva dos dados por meio de frequências absolutas (n) e relativas (%), mediana e intervalos interquartis. Para avaliar a associação entre as características ecocardiográficas e as manifestações clínicas com os resultados perinatais e pós-natais, foi aplicado o teste exato de Fisher. O cálculo da sobrevida global foi realizado pelo método de Kaplan-Meier e a comparação de curvas pelo teste de log-rank. O tempo de seguimento, calculado em meses, foi definido a partir da data de alta do hospital à data do status atual (vivo/censura ou óbito). O nível de significância considerado foi de 5% (p<0,05). Resultados: o rabdomioma é o tipo mais frequente (85%) de tumor cardíaco; apresenta alta morbidade (79,3%) e mortalidade geral de 17,4%; a presença de hidropisia fetal preditiva de óbito. Conclusão: A presença de hidropisia fetal teve impacto na mortalidade, sendo fator importante para aconselhamento e estabelecimento de prognóstico. A maioria dos óbitos ocorrem antes da alta hospitalar.

Abstract Background: This was a 30-year retrospective cohort study that approximates closely to the natural history of cardiac tumors diagnosed in the fetus, since there was no case of pregnancy interruption Objective: To assess morbidity and mortality in the perinatal period and at long term in fetuses diagnosed with cardiac tumor. Our secondary objective was to assess the evaluating factors of perinatal and postnatal results. Methods: This was a retrospective cohort study with 74 pregnant women with an echocardiographic diagnosis of fetal cardiac tumor at two referral centers between May 1991 and November 2021. A descriptive analysis was performed, and data were expressed as absolute (n) and relative (%) frequencies, median and interquartile range. Fisher's exact test was used to evaluate the association of echocardiographic characteristics and clinical manifestations with perinatal and postnatal results. Global survival was calculated using the Kaplan-Meier method and the curves were compared by the log-rank test. The time of follow-up, calculated in months, corresponded to the time elapsed from hospital discharge to current status (survived/ censoring or death). The level of significance was set at 5% (p<0.05). Results: Rhabdomyoma is the most common type of cardiac tumor (85%), with a high morbidity (79.3%) and overall mortality of 17.4%. The presence of fetal hydrops was a predictor of death. Conclusion: The presence of fetal hydrops had an impact on mortality, and hence is an important factor in counselling and determining the prognosis. Most deaths occurred before hospital discharge.

Diagnóstico prenatal y seguimiento de tumores cardiacos fetales: serie de casos y revisión de la literatura

Antecedentes. Los tumores cardiacos son frecuentes en la etapa fetal e infantil, siendo el rabdomioma el más prevalente en la vida fetal. Su diagnóstico se ha incrementado debido al cribado por ecografía. Objetivo. Comunicar la primera serie peruana de casos con diagnóstico prenatal de tumores cardiacos fetales en un instituto materno perinatal. Métodos. Estudio descriptivo de serie de casos. Se revisó la base de datos de todos los fetos con diagnóstico prenatal de tumores cardiacos a partir de enero de 2009 hasta enero de 2021 en el Instituto Nacional Materno Perinatal (INMP), Lima, Perú. Estos pacientes fueron seguidos por vía telefónica y en dos casos se les realizó control ecocardiográfico. Resultados. Se halló 6 casos de pacientes diagnosticados con tumores cardiacos en los últimos 12 años en el INMP, con reducción de tamaño en el seguimiento de todos los casos y la asociación con esclerosis tuberosa en la mitad de ellos. Conclusiones. Los rabdomiomas cardiacos representan los tumores más frecuentes en la vida fetal. La mayoría tienen en común la remisión parcial del tumor. Sin embargo, la evolución clínica depende de la ubicación, tamaño y su asociación o no de esclerosis tuberosa. Por ello es recomendable un seguimiento estricto, especialmente del sistema nervioso central.

Background: Cardiac tumors are frequent in the fetal and infant stages, with rhabdomyoma being the most prevalent in fetal life. Its diagnosis has increased due to ultrasound screening. Objective: To report the first Peruvian series of cases with prenatal diagnosis of fetal cardiac tumors in a maternal perinatal institute. Methods: Descriptive study of case series. The database of all fetuses with prenatal diagnosis of cardiac tumors from January 2009 to January 2021 at the Instituto Nacional Materno Perinatal (INMP), Lima, Peru, was reviewed. These patients were followed up by telephone and in two cases echocardiographic control was performed. Results: We found 6 cases of patients diagnosed with cardiac tumors in the last 12 years in the INMP, with reduction in size in the follow-up of all cases and association with tuberous sclerosis in half of them. Conclusions: Cardiac rhabdomyomas represent the most frequent tumors in fetal life. Most of them have in common the partial remission of the tumor. However, the clinical evolution depends on the location of the tumor, size, and its association or not with tuberous sclerosis. For this reason, close follow-up is recommended, especially of the central nervous system.

Rabdomioma cardiaco en relación con tetralogía de Fallot y esclerosis tuberosa / Cardiac rhabdomyoma associated with tetralogy of Fallot and tuberous sclerosis

Resumen Los tumores cardiacos son inhabituales en la edad pediátrica; de ellos, el rabdomioma es el más prevalente. Su curso suele ser benigno. Los casos sintomáticos obedecen a su efecto mecánico obstructivo o a la presencia de arritmias. No es común su asociación con cardiopatías congénitas. Se presenta el caso de un lactante con rabdomiomas múltiples dentro del complejo de esclerosis tuberosa y portador de tetralogía de Fallot con estenosis infundibulovalvular grave, quien presentó crisis de hipoxia que requirió valvuloplastia pulmonar percutánea, la cual se complicó por arritmia supraventricular y tuvo un desenlace fatal.

Abstract Cardiac tumors are rare in pediatrics, and when they occur, rhabdomyomas are the most prevalent. They are generally benign; symptomatic cases are due to mechanical obstruction or arrhythmias. They are not commonly associated with congenital heart disease. We present the case of an infant with multiple rhabdomyomas as part of tuberous sclerosis complex, and tetralogy of Fallot with severe infundibular and valvular stenosis, who presented a hypoxic crisis requiring percutaneous pulmonary valvuloplasty which was complicated by supraventricular arrythmia and had a fatal outcome.

Importancia del rabdomioma cardiaco en población pediátrica. Experiencia de 39 años. Serie de casos / Importance of heart rabdomioma in pediatric population. A 39 year experience. Case series

Resumen Introducción: Los rabdomiomas son los tumores cardiacos benignos más prevalentes en la etapa fetal y durante la infancia. Objetivo: Nuestro objetivo es dar a conocer nuestra experiencia durante 39 años en pacientes pediátricos con rabdomioma en nuestra institución, así como enfatizar la importancia de su detección, estudio y control por la asociación que tiene con esclerosis tuberosa (ET). Material y métodos: Realizamos un estudio retrospectivo y descriptivo, de enero de 1980 a marzo del 2018. Veinticuatro cumplieron con nuestros criterios, recogimos información respecto a la clínica y estudios de gabinete, así como su evolución y el tratamiento dado. Se les llamó vía telefónica para conocer su evolución y estado actual. Resultados: Encontramos 51 pacientes con diagnóstico de tumor cardiaco, de los cuales 24 eran rabdomiomas. El diagnóstico se hizo prenatal en 8 pacientes, 5 al nacimiento y en 11 durante el primer año de vida. Las manifestaciones clínicas más frecuentes fueron la presencia de soplo, arritmias, cianosis, disnea y diaforesis. En 17 de ellos se hizo diagnóstico de ET. La mitad tuvo seguimiento por neurología, 10 por dermatología, 8 por oftalmología y 4 con genética. La mitad se dejó en vigilancia, a 7 se les dio tratamiento médico y 5 requirieron cirugía. En cuanto a la evolución, 17 pacientes se mantuvieron estables, 5 presentaron regresión espontánea y 2 fallecieron. Conclusiones: El rabdomioma es un tumor benigno poco frecuente, su evolución puede ser maligna y asociado a ET ensombrece el pronóstico.

Abstract Introduction: Rhabdomyomas are the most prevalent benign heart tumors in the fetal stage and during childhood. Objective: Our objective is to make known our experience over 39 years in pediatric patients with rhabdomyoma in our institution, as well as to emphasize the importance of its detection, study and control due to the association it has with tuberous sclerosis (TS). Material and methods: We conducted a retrospective, descriptive and cross-sectional study, from January 1980 to March 2018. Twenty-four met our criteria, we collected information regarding the clinic and cabinet studies, as well as their evolution and the treatment given. They were called by telephone to know their evolution and current status. Results: We found 51 patients with a diagnosis of cardiac tumor, of which 24 were rhabdomyomas. The diagnosis was made prenatal in 8 patients, 5 at birth and in 11 during the first year of life. The most frequent clinical manifestations were the presence of murmur, arrhythmias, cyanosis, dyspnea, and diaphoresis. In 17 of them a diagnosis of TS was made. Half had follow-up by neurology, 10 by dermatology, 8 by ophthalmology and 4 with genetics. Half were left under surveillance, 7 were given medical treatment and 5 required surgery. Regarding the clinical evolution 17 patients remained stable, 5 presented spontaneous regression and 2 died. Conclusions: Rhabdomyoma is a rare benign tumor, its evolution can be malignant and associated with TS, it darkens the prognosis.

Rabdomioma intracardiaco: presentación clínica y opciones terapéuticas actuales a propósito de tres casos / Cardiac rhabdomyoma: Clinical presentation of three cases and current therapeutic options

Resumen Hasta hace algunas décadas los tumores cardiacos tenían solo un interés académico dada su baja tasa de presentación; sin embargo, con el advenimiento del baipás cardiopulmonar, el manejo quirúrgico comienza a ser posible y, más recientemente, junto con la investigación farmacológica, contribuyen al desarrollo de nuevas estrategias de tratamiento para estos pacientes. La incidencia estimada de los tumores cardiacos es baja y tiene un comportamiento generalmente benigno y manifestaciones clínicas inespecíficas. Estos tumores en la edad pediátrica se asocian a esclerosis tuberosa, una enfermedad de patrón de herencia autosómica dominante que se caracteriza por una alteración en la diferenciación y multiplicación celular (hamartomas) en diferentes sistemas. Desde el punto de vista cardiaco, el grado de morbilidad está condicionado por el tamaño y la localización tumoral dentro de la cavidad, y tiene riesgo de obstruir los tractos de salida ventriculares, alterar la función valvular o producir trastornos de conducción. Algunos pacientes solo requieren seguimiento clínico durante el transcurso de su vida, pero existe la posibilidad de regresión tumoral; otros se benefician de una resección quirúrgica por su impacto hemodinámico o alteraciones del ritmo cardiaco. Sin embargo, no todos son candidatos quirúrgicos, en cuyo caso el manejo con inhibidores m-TOR ha surgido como una alternativa terapéutica. Se presenta el caso de tres neonatos con esclerosis tuberosa y rabdomioma cardiaco, diagnosticados en etapa prenatal, a quienes se les realizó un abordaje terapéutico individualizado, basado en las opciones actuales disponibles para este grupo de pacientes.

Abstract Up to a few decades ago, cardiac tumours were only of academic interest given their low presentation rate. However, with the advances in cardiopulmonary, surgical management began to be possible, and more recently, they contribute to the development of new treatment strategies for these patients. The estimated incidence of cardiac tumours is low and are generally benign with non-specific clinical signs and symptoms. In paediatrics, these tumours are associated with tuberous sclerosis, a disease with a dominant autosomal inheritance pattern, which is characterised by an alteration in cell differentiation and multiplication (hamartomas) in different systems. From a cardiac point of view, the morbidity level is determined by the size and location of the tumour within the cavity, the risk of obstructing ventricular outflow tracts, alterations in valvular function, and conduction disorders. Some patients only require clinical follow-up all their lives, as there is the risk of tumour regression. Others may benefit from surgical resection due to its haemodynamic impact or changes in cardiac rhythm. However, not everyone is a candidate for surgery, in which case, management with m-TOR inhibitors has emerged as a therapeutic alternative. The case is presented on three neonates with tuberous sclerosis and a cardiac rhabdomyoma, diagnosed in the prenatal stage. An individualised therapeutic approach was made based on the current options available for this group of patients.

Complejo esclerosis tuberosa: Reporte de un caso clínico neonatal

RESUMEN El complejo de esclerosis tuberosa es una afección genética, aproximadamente dos tercios de los casos ocurren esporádicamente; se caracteriza por lesiones y tumores benignos (hamartomas) en múltiples sistemas orgánicos. La detección prenatal precisa es importante para el pronóstico, una decisión sobre el resultado del embarazo y el asesoramiento. Se reporta el caso de una gestante sana y su feto con diagnóstico presuntivo de esclerosis tuberosa, por hallazgo de masas intracardiacas en ecografía prenatal, confirmados luego del nacimiento, con afectación de otros órganos, cumpliendo con criterios mayores de diagnóstico. El caso presentado es el primero registrado en el Departamento de Neonatología y tiene el objetivo de mostrar la aproximación diagnóstica prenatal y postnatal de una enfermedad relativamente rara.

ABSTRACT Tuberous sclerosis complex is a genetic condition caused by mutations in the tumor suppressor genes TSC1 and TSC2, located on chromosomes 9 and 16 respectively. Approximately two-thirds of cases occur sporadically and the overall incidence has been estimated to be 1 in 5,800 live births. It is characterized by benign lesions and tumors (hamartomas) in multiple organ systems (brain, heart, skin, eyes, kidneys, lungs, liver). Accurate prenatal detection is important for prognosis, a decision about the pregnancy outcome, and counseling. We report the case of a healthy pregnant woman and her fetus with a presumptive diagnosis of tuberous sclerosis, due to the finding of intracardiac masses on prenatal ultrasound, confirmed after birth, with involvement of other organs, fulfilling the major diagnostic criteria. The case presented is the first recorded case at our Department of Neonatology and this report illustrates the prenatal and postnatal diagnostic approach of a relatively rare disease.

Actualización en enfermedad de kawasaki: diagnóstico, estudio y tratamiento / Kawasaki disease update: diagnosis, study and treatment

La enfermedad de Kawasaki (EK) es una vasculitis aguda de vaso mediano que afecta principalmente a niños menores de 5 años, que de no ser tratada, se asocia al desarrollo de aneurismas de las arterias coronarias en aproximadamente el 25% de los casos. Típicamente la EK se presenta con fiebre, cambios mucocutáneos y linfadenopatía. Sin embargo, EK es una enfermedad excepcional en la que las formas incompletas de la enfermedad son muy comunes y a menudo asociación sintomatologías atípicas. Éstas pueden crear un desafío diagnóstico para los tratantes y retrasar el inicio de la terapia. No existe un gold standard para el diagnóstico de EK pero hay estudios de laboratorio y hallazgos ecocardiográficos que permiten apoyar el diagnóstico en casos incompletos. El estudio con ecocardiograma debe realizarse lo más pronto posible cuando se sospecha el diagnóstico, pero no debe retrasar el inicio de tratamiento. El objetivo de la terapia en EK es disminuir el riesgo de desarrollar aneurismas de las arterias coronarias y de esta forma, la morbimortalidad asociada a dicha condición. El propósito de esta revisión es conocer las características clínicas y las posibles formas de presentación de esta patología, además del tratamiento actual.

Kawasaki disease (KD) is an acute vasculitis of the medium vessel that mainly affects children under 5 years old, which if it's not treated, is associated with the development of coronary artery aneurysms in approximately 25% of all cases. Typically, KD presents with fever, mucocutaneous changes and lymphadenopathy. However, EK is an exceptional disease in which incomplete forms of the disease are very common and atypical presentations often occur. These presentations may create a diagnostic puzzle for pediatricians and may delay the start of therapy. There is no specific study for the diagnosis of KD but there are laboratory studies and findings in ECG that support the diagnosis in atypical cases. The echocardiogram study should be performed as soon as possible when the diagnosis is suspected, but should not delay the treatment. The goal of treatment in KD is to reduce the risk of developing aneurysms of the coronary arteries and thereby decrease the morbidity and mortality associated with this condition.

Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature

Cardiac rhabdomyoma is a benign tumor which constitutes the most common cardiovascular feature of the tuberous sclerosis complex, a multisystem genetically determined neurocutaneous disorder. Cardiac rhabdomyomas can be detected in the prenatal ultrasound, are usually asymptomatic and spontaneously regress within the first three years of life. Less often, the tumors' size, number, and location can produce a mass effect that may lead to blood flow abnormalities or organ dysfunction (heart failure and arrhythmia). In this setting, severe morbidity, and eventually, a lethal outcome despite clinical and surgical treatment may ensue. We describe a fatal case of multiple cardiac rhabdomyomas in a newborn girl. One of the rhabdomyomas was large and unfavorably located, causing significant obstruction of the left ventricular outflow tract. The autopsy identified, in addition to cardiac rhabdomyomas, brain glioneuronal hamartomas (cortical tubers), subependymal nodules and subependymal giant cell tumors, characteristic of the tuberous sclerosis complex. The newborn's family was investigated for the presence of typical clinical symptoms of the complex and image findings showed significant phenotypical variations and a broad symptom spectrum among the family members. This interesting case underscores the variability of tuberous sclerosis complex and the importance of performing a comprehensive postmortem examination in the identification of the cause of death, especially in the setting of familial disease.

A mass causing right ventricular outflow obstruction - a dreadful complication

Abstract The most common cardiac tumour in the pediatric age group is rhabdomyoma. These are usually located in the ventricles, either in the ventricular septum or free wall. Cardiac tumours in early infancy may lead to severely compromised blood flow due to inflow or outflow tract obstruction. The diagnosis of cardiac rhabdomyoma can be established by transthoracic echocardiography (TTE). Rhabdomyomas have a natural history of spontaneous regression; surgical intervention is reserved for patients with symptoms of severe obstruction or hemodynamic instability. In this study, a case of two-year old child who presented with failure to thrive and underwent excision of pedunculated mass from the right ventricular outflow tract was reported.

Caso Clínico: Resección Quirúrgica de un Rabdomioma Cardíaco Fetal / Clinical Case Report: Surgical Resection of a Fetal Cardiac Rhabdomyom

INTRODUCCIÓN: Los tumores cardiacos fetales son extraordinariamente raros; su prevalencia varía entre 0.027% y 0.14%. Entre ellos, los más comunes son los rabdomiomas, siendo el 90% benignos y asintomáticos. Se mencionan menos de 300 casos en la bibliografía médica internacional y, en nuestro país, existe un solo caso publicado que no requirió corrección quirúrgica. CASO CLÍNICO: Paciente masculino, recién nacido a término, adecuado para la edad gestacional, con diagnóstico prenatal ecográfico de masa intracavitaria cardiaca, observado en ecografía a las 20 semanas de gestación. Estudio ecográfico a las pocas horas de vida evidenció comunicación interatrial, persistencia de conducto arterioso e imágenes compatibles con rabdomiomas biventriculares con repercusión hemodinámica y signos de disfunción biventricular de predominio derecho por obstrucción del tracto de salida, por lo que se decidió intervención quirúrgica con corrección total. EVOLUCIÓN: El paciente fue ingresado en la Unidad de Cuidados Intensivos Neonatal para monitoreo hemodinámico y a las 36 horas de vida se realizó cirugía correctiva con resección de masa tumoral de ventrículo derecho preservando válvula pulmonar, cierre de conducto arterioso y de la comunicación interauricular. Recibió el alta a los 10 días con buena evolución; ecocardiografías posteriores muestran involución de rabdomiomas intracavitarios de ventrículo izquierdo y adecuada función hemodinámica. CONCLUSIÓN: El diagnóstico prenatal permitió planificar parto por cesárea y corrección quirúrgica total temprana. Existe dificultad para diagnóstico de patologías con prevalencias tan bajas, por lo que los controles ecográficos realizados por profesionales experimentados fueron de vital importancia. El esfuerzo multidisciplinario para el diagnóstico, tratamiento y control hicieron posible un resultado favorable.(au)

BACKGROUND: Fetal cardiac tumors are extraordinarily rare; the prevalence varies between 0.027% and 0.14%. Among them, the most common are rhabdomyomas, 90% being benign and asymptomatic. Less than 300 cases in the international medical literature have been described; in our country there is only one published case report that did not require surgical correction. CASE REPORT: 2 day-old full-term newborn, male, adequate for gestational age, with prenatal ultrasound diagnosis of cardiac intracavitary mass at 20 gestational weeks. Ultrasound study performed within a few hours after birth evidenced interatrial communication, persistence of ductus arteriosus and images compatible with biventricular rhabdomyomas with hemodynamic repercussion and signs of biventricular dysfunction, predominantly right, due to obstruction of the outflow tract. Total correction surgery was decided as treatment EVOLUTION: The patient was admitted to the Neonatal Intensive Care Unit for hemodynamic monitoring; 36 hours after birth, corrective surgery was performed with resection of the right ventricular tumor mass, preservation of pulmonary valve and closure of the ductus arteriosus and interatrial communication. The patient was discharged 10 days later with good progress; follow-up echocardiogram showed regression of left ventricular intracavitary rhabdomyoma and adequate hemodynamic function. CONCLUSIONS: Prenatal diagnosis allowed planning cesarean delivery and early total surgical correction. There is difficulty in the diagnosis of prenatal pathologies of low prevalence. The ultrasound performed by experienced professionals was crucial. The multidisciplinary effort for diagnosis, treatment and control made possible a favorable outcome(au)

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

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.

Diagnóstico prenatal de rabdomioma fetal asociado a esclerosis tuberosa: a propósito de un caso / Prenatal diagnosis of fetal rhabdomyoma associated with tuberous sclerosis

Los rabdomiomas son los tumores benignos cardíacos más frecuentes encontrados en vida fetal y postnatal, asociándose frecuentemente a esclerosis tuberosa. A propósito de un caso manejado en nuestra maternidad el año 2014 se revisó la literatura existente sobre su diagnóstico, manejo, implicancias pronósticas. Se trata de una embarazada de 23 años que fue referida a las 25 semanas a nuestro servicio, el estudio ecográfico revela tres imágenes cardiacas concordantes con rabdomiomas en las paredes ventriculares y el septum. No se detectan otras anormalidades y se controla en forma seriada con ultrasonido. Se realiza a las 33 semanas resonancia nuclear magnética fetal con el objetivo de evidenciar signos de esclerosis tuberosa los cuales se evidencian en el examen y se confirman en exámenes postnatales. Se comenta el diagnóstico diferencial con otros neoplasias benignas cardiacas como teratomas, fibromas y hemangiomas. Las posibles complicaciones de los rabdomiomas dependerán de su ubicación y tamaño, produciendo alteraciones en flujo o bien menos frecuentemente arritmias. La asociación más importante de esta patología es con esclerosis tuberosa de manera que se debe realizar una cuidadosa anamnesis familiar, estudios de imágenes que deben abarcar el SNC, corazón y riñones. Finalmente en ese contexto realizar la mejor consejería a los padres.

Rhabdomyomas are the most common benign cardiac tumors found in fetal and postnatal life, frequently being associated with tuberous sclerosis. In relation to a case handled in our maternity unit in 2014, existing literature on cardiac rhabdomyomas diagnosis, management and prognostic implications, was revised. The case concerned a 25 week pregnant 23 year old patient, who was referred to our facility; ultrasound examination reveals three cardiac images consistent with rhabdomyomas in the ventricular walls and the septum. No other abnormalities are detected and the patient is monitored with a series of ultrasound. At 33 weeks a fetal magnetic resonance imaging is performed in order to show signs of tuberous sclerosis which are noted in the examination and confirmed in post natal tests. Differential diagnosis with other benign cardiac neoplasms such as teratomas, fibromas and hemangiomas is discussed. Possible complications of the rhabdomyomas will depend on its location and size, producing changes in flow or less frequent arrhythmias. The most important association of this pathology is with tuberous sclerosis, therefore the family medical history must be carefully evaluated, and imaging controls that should include the CNS, heart and kidneys. Finally in this context give the best counseling to the parents.

Prognosis and diagnosis of fetal cardiac rhabdomyomas / 中华围产医学杂志

Objective To improve the awareness of fetal cardiac rhabdomyomas (CRs) and investigate a better model for prenatal diagnosis and treatment through analyzing imaging findings and prognosis.Methods A retrospective study was conducted on 23 cases of CRs which were diagnosed by ultrasound in Obstetrics and Gynecology Hospital of Fudan University from January 2008 to November 2015.General conditions,imaging features,prognosis and follow-up data of the 23 cases were described.Results The average gestational age of the 23 fetuses at diagnosis was (29.8±4.1) (22.4-35.7) weeks.Seventeen out of the 23 gravidas received prenatal multidisciplinary consultation.Among all 23 gravidas,three (13％) were lost to follow-up,12 (52％) decided to terminate the pregnancy,and the other eight (35％) continued to term pregnancy and their babies were followed up for three years.Of these eight cases,two cases received prenatal brain MRI and no tuberous sclerosis complex (TSC) was detected,no CRs was identified during the follow-up,and their physical and mental developments were both normal.One case was diagnosed with suspected subependymal nodules by prenatal brain MRI in our hospital,but the MRI images was normal when scanned in the other hospital,and follow-up data revealed neither CRs nor abnormal physical and mental developments.Four cases did not received prenatal brain MRI,but the MRI images of neonatal brains indicated TSC,besides,follow-up data showed that seizures were observed,physical developments were all normal,but three of the four cases had mental retardation;CRs disappeared in only two of the four cases.One case had neither prenatal nor neonatal MRI,but follow-up data showed that CRs had disappeared and physical and mental developments were both normal.Conclusions Prenatal diagnosis of fetal tuberous sclerosis is crucial to the prognosis of CRs.Prenatal ultrasonography in combination with cranial MRI improves the accuracy of prenatal diagnosis of CRs complicated with TSC and assists in clinical decision-making and prognosis analysis.

Adult rhabdomyoma in the oral and maxillofacial region: a clinicopathologic study of three cases / 临床与实验病理学杂志

Purpose To investigate the clinicopathological features of the adult rhabdomyoma (A-RM) in the oral and maxillofacial region.Methods Three cases of A-RM in the oral and maxillofacial region were analyzed for the clinical symptoms,imaging data,pathological features,differential diagnosis,treatment,and prognosis with the literatures review.Results The age arranged from 4 yea~ to 83 years in three A-RM cases.Two cases were male and one case was female.Two cases occurred in the mouth floor and one case in the tongue.Three A-RM cases presented as slowly growing,painless masses clinically.The masses were lobular,red-brown nodules with clear boundary.Histologically,they consisted of densely packed,large,round and polygonal cells with abundant granular eosinophilic cytoplasm.Cross striations and vacuoles were seen in the cytoplasm.Tumor cells expressed desmin and myoglobin,partially expressed SMA,MyoD1 and S-100 protein.PAS was also positive among tumor cells and could be digested by the diastasum diastace.Conclusion Histological examination is the main diagnostic basis for A-RM.For accurate diagnosis,cross striations and immunohistochemistry for myogenic proteins in cytoplasm are of pivotal importance.Radical resection is the main treatment with generally promising prognosis.

Changes of Cardiac Rhabdomyoma Before and After Childbirth by Using Ultrasound / 中国医学影像学杂志

Purpose To discuss the ultrasonic cardiogram of cardiac rhabdomyoma,and to analyze the change trend of single and multiple rhabdomyoma before and 6 months after childbirth.Materials and Methods Eleven fetuses diagnosed as cardiac rhabdomyoma prenatally from January 2014 to January 2016 were analyzed retrospectively,and the tumor size,number and anatomical location were recorded by ultrasound.The 11 fetuses were divided into single group and multiple group,and both groups were reviewed the changes to tumors during pregnancy and within postnatal 6 months.Results For 11 cases with rhabdomyoma,6 cases were in the multiple group,with tumors growing in 5 cases,and tumors unchanged in 1 case,and 5 cases were in the single group,with all tumors unchanged.The prenatal difference between the two groups was statistically significant (P＜0.05).After six months follow-up of 11 fetuses with cardiac rhabdomyoma,tumor regression occurred in 2 cases of the multiple group,tumors were unchanged in 4 cases,tumor regression occurred in 2 cases of the single group,tumors were unchanged in 3 cases,and there was no significant difference between the fetuses in the two groups within postnatal 6 months (P＞0.05).Conclusion The cardic rhabdomyoma has a tendency to increase in the prenatal period,and the increase may be significant in the multiple group.The rhabdomyoma is relatively stable within 6 months follow-up after birth,and there is a partial regression trend,without significant difference between single and multiple groups.

Rhabdomyomatous Mesenchymal Hamartoma Presenting as a Midline Mass on a Chin

A 17-month-old boy was evaluated for a midline mass on his chin. The mass was anchored to the mentalis muscle with a stalk-like structure. The pathological diagnosis of the mass was rhabdomyomatous mesenchymal hamartoma. This is the first report of rhabdomyomatous mesenchymal hamartoma presenting as a midline chin mass in Korean pediatric patients.

Rhabdomyomatous Mesenchymal Hamartoma Presenting as a Midline Mass on a Chin

A 17-month-old boy was evaluated for a midline mass on his chin. The mass was anchored to the mentalis muscle with a stalk-like structure. The pathological diagnosis of the mass was rhabdomyomatous mesenchymal hamartoma. This is the first report of rhabdomyomatous mesenchymal hamartoma presenting as a midline chin mass in Korean pediatric patients.

Rabdomioma fetal: diagnóstico prenatal y tratamiento / Fetal rhabdomyoma: prenatal diagnosis and treatment

Resumen El rabdomioma es un tumor poco frecuente, más aún cuando es diagnosticado en la vida intrauterina; su pronóstico es variable y su etiología permanece desconocida. Se manifiesta clínicamente en la vida fetal de forma asintomática hasta generar un compromiso catastrófico por arritmias severas, hidrops y muerte. Se describe el caso de una paciente primigestante, de 25 años de edad, remitida por masa cardiaca fetal, en cuyo feto y mediante ecografía se le encontraron imágenes ecogénicas en el ventrículo izquierdo, adheridas al septo, sin compromiso hemodinámico. Al nacer, la resonancia evidenció nódulos subependimarios bilaterales. Se decidió tratar con anticonvulsivantes. Discusión: El rabdomioma corresponde al 60% de los tumores cardiacos fetales, y le siguen en frecuencia los teratomas y los fibromas. Los factores de riesgo asociados se desconocen. El diagnóstico se apoya en una visión de 4 cámaras. El pronóstico depende del compromiso. Conclusiones: Las arritmias severas y el hidrops pueden conducir a muerte fetal como consecuencia del rabdomioma cardiaco. Por tanto, se debe llevar a cabo un seguimiento continuo, además de considerar distintos diagnósticos diferenciales.

Abstract Rhabdomyomas are rare tumors, even more so when diagnosed in intrauterine life; their prognosis is variable and etiology remains unknown. Their clinical expression in fetal life is asymptomatic until they develop a catastrophic impairment of severe arrhythmias, hydrops and death. We report a case of a 25 year-old primigravid woman, referred for a fetal cardiac mass, in a fetus where an ultrasound revealed left ventricular echogenic focus without hemodynamic impairment. At birth, resonance evidenced bilateral subependymal nodes. Anticonvulsant drugs were the treatment of choice. Discussion: Rhabdomyoma account for 60% of fetal cardiac tumors, followed in frequency by teratomas and fibroids. Associated risk factors are unknown. Diagnosis relies on vision of a 4 D vision camera. Prognosis depends on impairment. Conclusions: Severe arrhythmias and hydrops can lead to fetal death as a consequence of cardiac rhabdomyoma. Thus a constant monitoring must be maintained, as well as considering multiple differential diagnosis.

Study on p21 gene knock out in G401 cell line by using CRISPR/Cas9 system / 天津医药

Objective To knock out p21 gene in human malignant rhab doid tumor(MRT)cell line G401 by using CRISPR/Cas9 genome engineering technology. Methods The expression of p21 was detected by reverse transcription quantitative PCR (RT-qPCR) and Western blot assay in several MRT cell lines. The guide RNA was designed by targeting the third exon of p21 gene,which encoded its home domains, and then subcloned into lentiCRISPR v2 vector and validated sequencing. The validated plasmids were further used to package and produce the lentivirus in 293T cells, and the G401 cells were infected, then puromycin was used to screen positive cells, and the clusters of G401 monoclonal cells, were obtained by selecting monoclonal cells and culturing under the microscope. The RNA and protein of new clonal cell line were extracted, and RT-qPCR and Western blot assay were applied to confirm whether p21 was successfully knocked out. Results The p21 was highly expressed in MRT tumor cells. The CRISPR/Cas9 lentivirus plasmids, targeted p21 gene were successfully constructed. Compared with negative control group,the expression of p21 was not detected in G401 monoclonal cells, which were successfully screened. Conclusion In view of the difficult transfection of cells such as G401, p21 knockout stable cell line has been successfully constructed by using CRISPR/Cas9 system, which lays the foundation for further study of the mechanism of p21 in MRT tumors .