Tumores cardíacos pediátricos: características de imagens ecocardiográficas / Pediatric cardiac tumors: echocardiographic imaging features

Tumores cardíacos (TC) em crianças são lesões muito raras, mas seu diagnóstico é fundamental para a conduta adotada para o paciente. A ecocardiografia é a modalidade de imagem cardiovascular mais utilizada na prática clínica para o diagnóstico inicial de TC em pacientes pediátricos. Conhecer as características ecocardiográficas das TCs pode possibilitar um diagnóstico cada vez mais precoce e a identificação de sua etiologia mais provável. Os TCs primários e benignos são os mais frequentes na população pediátrica. Entre os TCs benignos, os mais frequentes em fetos e neonatos são rabdomiomas e teratomas. Em crianças e adolescentes, rabdomiomas e fibromas são os mais comuns. Neste artigo, descrevemos as características ecocardiográficas dos principais TCs em idades pediátricas.(AU)

Cardiac tumors (CTs) in children are very rare, but their diagnosis is crucial for patient management. Echocardiography is the most commonly used cardiovascular imaging modality in clinical practice for the initial diagnosis of CTs in pediatric patients. Knowing the echocardiographic characteristics of CTs can enable an increasingly early diagnosis and the identification of its most likely etiology. Primary and benign CTs are the most frequent types in the pediatric population. Among benign CTs, the most frequent in fetuses and neonates are rhabdomyomas and teratomas. In children and adolescents, rhabdomyomas and fibromas are more common. Here we describe the echocardiographic characteristics of the most common CTs in pediatric patients.(AU)

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.

Hemorragia intracraniana en un feto con trisomia 21 y rabdomiomas cardiacos: diagnostico diferencial de esclerosis tuberosa: estudio antenatal a propósito de un caso / Intracranian hemorrhage in a fetus with trisomy 21 and cardiac rhabdomyomas: differential diagnosis of tuberous sclerosis: antenatal study regarding a case

INTRODUCCIÓN: El Síndrome de Down (SD) es una de las aneuploidías más frecuentes. En Chile, la incidencia es de 2.2 por 1000 nv. La esclerosis tuberosa (ET) es una enfermedad genética autosómica dominante con una prevalencia de 1:600 a 1:10.000 nacidos vivos (nv) que se sospecha prenatalmente por la presencia de rabdomiomas cardiacos. Los tumores cardiacos fetales tienen una prevalencia de 1:10000 nv, los más prevalentes son los Rabdomiomas. El hallazgo de tumores intracraneanos son infrecuentes, dentro del diagnóstico diferencial es necesario descartar la Hemorragia Intraventricular (HIV). CASO CLÍNICO: Paciente de 29 años, M2, Derivada a nuestro centro a las 27+4 semanas para evaluación ecográfica. Entre los hallazgos se encuentran tumores intracardiacos en ventrículo derecho y marcadores blandos para alto riesgo de aneuploidía, por lo que se realiza cariotipo (amniocentesis genética: 47, XX+21). A las 32+0 semanas en una nueva evaluación presenta imagen hiperecogénica sugerente de tumor intracerebral. Se solicita resonancia magnética fetal que informa hemorragia intraventricular (HIV). El parto ocurre con un recién nacido de término, fenotipo concordante con Trisomía 21, ecocardiograma confirma dos tumores intracardiacos (Rabdomiomas) y ecografía cerebral confirma el diagnóstico de HIV Grado III derecho. Ante el diagnóstico diferencial de ET, se realiza ANGIO-TAC que resulta negativo para ET. DISCUSIÓN: En la evaluación ecográfica antenatal, la presencia de tumores intracardiacos asociados a tumor cerebral hace plantear el diagnóstico de una ET. El diagnóstico antenatal de tumores cerebrales vs HIV por ultrasonido es difícil. La resonancia es un examen complementario de gran ayuda, permitiendo un diagnóstico de certeza. La HIV fetal es un diagnóstico poco frecuente de diagnostico prenatal asociado a feto con trisomia 21.

INTRODUCTION: Down Syndrome (DS) is one of the most frequent aneuploidies. In our country its incidence is 2.2 every 1000 newborns. Tuberous sclerosis (TS) is a dominant autosomal genetic disease with a prevalence of 1:6000 to 1:10.000 newborns, this disease is suspected by the finding of cardiac rhabdomyomas. Rhabdomyomas are the most prevalent fetal heart tumors. Intracranial tumors are a rare prenatal finding in ultrasound the main differential diagnosis is Intraventricular Hemorrhage (IVH). The Objective of this paper is present a case report of a fetus with trisomy 21 plus rhabdomyomas and cranial tumors. CASE REPORT: 29 years old patient, referred for ultrasound at 27+4 week. Cardiac tumors and aneuploidy soft markers are found. Genetic amniocentesis is performed (Result: 47, XX+21). At 32+0 weeks ultrasound finding of intracranial tumor. Fetal MRI was performed which reports suspected IVH. Confirmed postnatally. Baby was delivered at term. Neonatal findings: Trisomy 21 phenotype, Echocardiogram with two cardiac tumors (Rhabdomyomas), neonatal brain ultrasound confirms Grade III - IVH. To rule out TS, an Angio-CT is performed which is negative for the disease. DISCUSSION: Cardiac Tumors associated to brain tumors in antenatal period make TS a possible diagnosis. Differentiate brain tumors and IVH by ultrasound is very difficult. MRI is a very helpful tool for an accurate diagnostic. IVH is a rare antenatal diagnosis. Not reported before in a baby with trisomy 21.

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.

Hamartoma mesenquimal rabdomiomatoso en una ubicación inesperada / Rhabdomyomatous mesenchymal hamartoma developed at an unexpected location

El hamartoma mesenquimal rabdomiomatoso es una lesión cutánea rara descripta por primera vez en 1986 como "hamartoma de músculo estriado". En general, se presenta en la región de la cabeza y el cuello de los recién nacidos. En este artículo, describimos el caso de una niña de 38 días con un apéndice cutáneo congénito en la región perianal. En el examen físico, no se observaron anomalías congénitas ni otras lesiones cutáneas. En el examen histopatológico, se observó un hamartoma con fibras de músculo esquelético desorganizadas. El diagnóstico diferencial incluyó apéndice cutáneo, trago accesorio y fibroma péndulo. El hamartoma mesenquimal rabdomiomatoso se diferencia de las lesiones mencionadas debido al componente de músculo estriado. Dado que no conlleva el riesgo de recurrencia ni de transformación a neoplasia maligna, no es muy relevante diferenciarlo de estas lesiones. Sin embargo, es importante establecer el diagnóstico correcto porque aproximadamente un tercio de los casos se asocian con anomalías congénitas. Asimismo, es necesario un diagnóstico histopatológico en los niños con ubicación perianal debido a las manifestaciones clínicas similares al rabdomiosarcoma.

Rhabdomyomatous mesenchymal hamartoma is a rare dermal lesion which was first described in 1986 as "striated muscle hamartoma". It usually develops in the head and neck region of newborns. We report a 38-day-old girl with a congenital skin tag in the perianal region. Physical examination did not reveal any congenital abnormalities or other dermal lesions. Histopathological examination showed a hamartoma with disorganized skeletal muscle fibers. The differential diagnosis includes skin tag, accessory tragus and soft fibroma. Rhabdomyomatous mesenchymal hamartoma differs from the listed lesions with its striated muscle component. Since it does not carry the risk of recurrence and malignant transformation, it is not very important to distinguish it from these lesions. However, a correct diagnosis is important because approximately one third of the cases are associated with congenital anomalies. Also, histopathological diagnosis should be made in children with perianal localization due to similar clinical manifestation of rhabdomyosarcoma.

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)

Tumores cardiacos primarios fetales: revisión de la literatura / Primary fetal cardiac tumors: review of the literature

Los tumores cardiacos primarios fetales representan una entidad de baja incidencia en la práctica clínica. La gran mayoría corresponde a lesiones benignas, siendo el rabdomioma el tipo más común. Si bien, es frecuente la regresión espontánea de este tipo de lesiones durante el embarazo, los tumores cardiacos fetales pueden asociarse a complicaciones como obstrucción del flujo cardíaco, insuficiencia valvular, arritmias, insuficiencia cardíaca e hidrops fetal, pudiendo conducir incluso a la muerte fetal. El mayor desarrollo de técnicas imagenológicas ha permitido un aumento en el número y precisión de los diagnósticos prenatales de tumores cardiacos, generando al mismo tiempo, nuevos desafíos y alternativas en relación al abordaje terapéutico. El objetivo del presente artículo de revisión es exponer la evidencia actual en relación al diagnóstico prenatal, manejo, complicaciones y condiciones asociadas de los tumores cardiacos fetales más frecuentes.

Fetal primary cardiac tumors represent a low incidence entity in clinical practice. The vast majority corresponds to benign lesions, with rhabdomyoma being the most common type. Although spontaneous regression of this type of lesions during pregnancy is frequent, fetal cardiac tumors can be associated with complications such as obstruction of cardiac flow, valvular insufficiency, arrhythmias, heart failure and fetal hydrops, which can even lead to fetal death. The greater development of imaging techniques has allowed an increase in the number and precision of prenatal diagnoses of cardiac tumors, generating at the same time, new challenges and alternatives in relation to the therapeutic approach. The objective of this review article is to present the current evidence regarding the prenatal diagnosis, management, complications and associated condition s of the most frequent fetal cardiac tumors.

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.

Rhabdomyoma of Inferior Rectus Muscle Manifesting as Vertical Eye Movement Limitation

No abstract available.

Outcomes after surgical resection of primary non-myxoma cardiac tumors

Abstract Objective: Primary cardiac tumors are rare lesions with different histological type. We reviewed our 17 years of experience in the surgical treatment and clinical results of primary non-myxoma cardiac tumors. Methods: Between July 2000 and February 2017, 21 patients with primary cardiac tumor were surgically treated in our institution. The tumors were categorized as benign non-myxomas and malignants. Data including the demographic characteristics, details of the tumor histology and grading, cardiac medical and surgical history, surgical procedure of the patients were obtained from the hospital database. Results: Eleven patients were diagnosed with benign non-myxoma tumor (male/female:7/4), ranging in age from 10 days to 74 years (mean age 30.9±26.5 years). Papillary fibroelastoma was the most frequent type (63.6%). There were two early deaths in benign group (all were rhabdomyoma), and mortality rate was 18%. The mean follow-up period was 69.3±58.7 months (range, 3 to 178 months). All survivals in benign group were free of tumor-related symptoms and tumor relapses. Ten patients were diagnosed with malignant tumor (sarcoma/lymphoma:8/2, male/female:3/7), ranging in age from 14 years to 73 years (mean age 44.7±18.9 years). Total resection could be done in only three (30%) patients. The mean follow-up period was 18.7±24.8 months (range, 0-78 months). Six patients died in the first 10 months. Conclusion: Complete resection of the cardiac tumors, whenever possible, is the main goal of surgery. Surgical resection of benign cardiac tumors is safe, usually curative and provides excellent long-term prognosis. On the contrary, malignant cardiac tumors still remain highly lethal.

Sudden cardiac arrest as first symptom of a benign cardiac tumor growth / Muerte súbita como primer síntoma de crecimiento de tumor cardíaco benigno

Abstract Primary cardiac tumors are rare, especially in the pediatric age. Most of them are benign in the sense they are not invasive. However, benign tumors maintain the potential for serious illness related to significant hemodynamic compromise or life-threatening dysrhythmias. We present the case of an infant with an initial diagnosis of cardiac rhabdomyoma who suffered ventricular arrhythmia and cardiac arrest. He suffered irreversible severe neurologic sequelae, due to his prolonged cardiopulmonary arrest and was finally diagnosed of cardiac fibroma. Good arrhythmia control was obtained after an extensive partial surgical resection of the tumor. This case highlights the importance of arrhythmia burden in this condition. A correct diagnosis based essentially in different imaging modalities and closer clinical and rhythm follow up could have avoided this ominous event.

Resumen Los tumores cardíacos primarios son raros, especialmente en la edad pediátrica. La mayoría de ellos son benignos, en el sentido de que no son invasivos. Sin embargo, los tumores benignos tienen el potencial para producir enfermedades graves que pueden causar compromiso hemodinámico significativo o arritmias potencialmente letales. Se presenta el caso de un niño con un diagnóstico inicial de rabdomioma cardíaco, quien sufrió una arritmia ventricular y una parada cardíaca. Tuvo secuelas neurológicas severas irreversibles debido al tiempo prolongado en parada cardiorrespiratoria y se le diagnosticó finalmente fibroma cardíaco. Se obtuvo un buen control de las arritmias después de una extensa resección parcial del tumor. Este caso pretende subrayar la importancia del riesgo de aparición de arritmias en esta situación. El diagnóstico correcto basado fundamentalmente en el uso de distintas modalidades de imagen y el seguimiento clínico y arritmológico, podrían haber evitado este desenlace fatal.

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.

Tumor intracardiaco en paciente adolescente / Intracardiac tumour in a teenage patient

Resumen Son raros los reportes de tumores intracardiacos en Pediatría; los benignos constituyen el 80% de las neoplasias cardiacas primarias, mientras que los malignos corresponden aproximadamente al 15%. Dentro del grupo de tumores benignos, el rabdomioma y el fibroma son los más frecuentes, en tanto que los sarcomas y el linfoma son los principales tumores malignos. La sintomatología es variable y depende del tamaño y localización del tumor. El diagnóstico se realiza por medio de imágenes como el ecocardiograma transtorácico o transesofágico y la resonancia magnética nuclear; el tratamiento quirúrgico tiene buen resultado. Se expone el caso de un adolescente de 14 años, con antecedente de soplo cardiaco diagnosticado a la edad de 8 años, asintomático hasta a la edad de 14 años, momento en el cual presentó cuadro agudo de disnea y dolor precordial. En ecocardiograma transtorácico se encontró masa intracardiaca de gran tamaño, que afectaba la conducción eléctrica por infiltración del nodo AV generando bloqueo AV de IIgrado, Mobitz II. Por medio de biopsia cardiaca se confirmó fibroma intracardiaco primario.

Abstract Reports of paediatric intracardiac tumours are rare; benign tumours constitute 80% of primary cardiac neoplasms, whereas approximately 15% are malignant. Rabdomyoma and fibroma are the most common benign tumours, while sarcoma and lymphoma are the most frequent malignant tumours. Symptoms vary and depend on the size and location of the tumour. Diagnosis is made using imaging such as transthoracic or transoesophageal ultrasound, and nuclear magnetic resonance. Surgical treatment has a good outcome. We present the case of a 14-year-old teenager, with a history of a heart murmur diagnosed at the age of 8. This was asymptomatic until he reached the age of 14, when he presented acute symptoms of dyspnoea and precordial pain. A large intracardiac mass was found on transthoracic echocardiogram that was affecting electrical conduction through infiltration of the AV node creating a Mobitz II 2 nd degree AV block. A primary intracardiac fibroma was confirmed by heart biopsy.

Tumores cardiacos fetales, rabdomiomas cardiacos y esclerosis tuberosa: Presentación de un caso / Fetal heart tumors, heart rhabdomyomas and sclerosis tuberosa: Case presentation

Introducción: Los tumores cardiacos primarios son raros en la infancia y en su mayoría benignos (97%). Los rabdomiomas registran una incidencia de 45% en autopsias y 79% en series clínicas. En niños la incidencia es del 0.27%. Caso: Presentamos el caso de un neonato con rabdomiomas cardiacos diagnosticados antes del nacimiento que no produjo alteraciones del ritmo cardiaco fetal ni patología caríaca asociada. De acuerdo a estudios de resonancia magnética, el neonato presenta imágenes cerebrales compatibles con esclerosis tuberosa. Discusión: Son benignos por sus características histológicas; sin embargo, pueden ser causa de diversas manifestaciones dependiendo del sitio en el que se ubique el tumor, de las estructuras que involucren, obstruyan o dañen. La asociación con esclerosis tuberosa se ha observado hasta en un 81% de los pacientes.

Introduction: Primary cardiac tumors are rare in childhood and they are mostly benign (97%). Rhabdomyomas incidence is 45% in autopsy series and 79% in clinical series. In the pediatric population, the incidence is 0.27%. Case: We report the case of a neonate with cardiac rhabdomyomas diagnosed before he was born that caused neither fetal heart rhythm disturbances nor other cardiac pathologic condition. The brain MRI showed signs of tuberous sclerosis. Discusion: Though, benign, these tumors may cause clinical manifestations depending on their location and the structures involved, they can obstruct or invade. The association with tuberous sclerosis can be as frequent as 81%.

Estudio clínico genético en pacientes con complejo de esclerosis tuberosa / Clinical and genetic study patients with tuberous sclerosis complex

El complejo de esclerosis tuberosa (CET) es una enfermedad autosómica dominante multisistémica producida por mutaciones en los genes supresores de tumores TSC1 o TSC2. Objetivo: Caracterizar clínica y genéticamente pacientes pediátricos con diagnóstico de CET. Pacientes y Método: Estudio descriptivo de registros clínicos de 42 pacientes pediátricos controlados en un servicio de neuropsiquiatría infantil con diagnóstico de CET y estudio genético en 21 de ellos. Se amplificó por reacción en cadena de la polimerasa y secuenció el exón 15 del gen TSC1 y los exones 33, 36 y 37 del gen TSC2. Se analizó la relación entre las mutaciones encontradas con la severidad y evolución clínica. Resultados: En el 61,9% de los pacientes las manifestaciones comenzaron antes de los 6 meses de edad. Las manifestaciones iniciales de CET más frecuentes fueron las crisis convulsivas (73,8%) y el hallazgo de rabdomiomas cardiacos (16,6%). Durante su evolución, todos los pacientes presentaron compromiso neurológico; el 92,9% presentó epilepsia. Todos los pacientes presentaron máculas hipomelanóticas, 47,6% pangiofibromas faciales, 23,8% parches de Shagreen, 47,6% rabdomiomas cardiacos y 35,7% hamartomas retinianos. El estudio genético realizado a 21 pacientes identificó 2 mutaciones heterocigotas patogénicas en TSC1 y una en TSC2. Este último paciente presentaba un fenotipo clínico más severo. Conclusiones: Las manifestaciones neurológicas y dermatológicas fueron las más frecuentes en los pacientes con CET. Se identificaron 2 mutaciones patogénicas en el gen TSC1 y una en el gen TSC2. La mutación en TSC2 se manifestó en un fenotipo clínico más severo.

Tuberous sclerosis complex (TSC) is a multisystem autosomal dominant disease caused by mutations in the tumor suppressor genes TSC1 or TSC2. Objective: To characterize clinically and genetically patients diagnosed with TSC. Patients and Method: Descriptive study of clinical records of 42 patients from a pediatric neuropsychiatry department diagnosed with TSC and genetic study in 21 of them. The exon 15 of TSC1 gene and exons 33, 36 and 37 of TSC2 gene were amplified by polymerase chain reaction and sequenced. The relationship between the mutations found with the severity and clinical course were analyzed. Results: In 61.9% of the patients the symptoms began before 6 months of age. The initial most frequent manifestations of TSC were new onset of seizures (73.8%) and the detection of cardiac rhabdomyomas (16.6%). During the evolution of the disease all patients had neurological involvement; 92.9% had epilepsy. All patients presented hypomelanotic spots, 47.6% facial angiofibromas, 23.8% Shagreen patch, 47.6 heart rhabdomyomas and 35.7% retinal hamartomas. In the genetic study of 21 patients two heterozygous pathogenic mutations in TSC1 and one in TSC2 genes were identified. The latter had a more severe clinical phenotype. Conclusions: Neurological and dermatological manifestations were the most frequent ones in patients with TSC. Two pathogenic mutations in TSC1 and one in TSC2 genes were identified. The patient with TSC2 mutation manifested a more severe clinical phenotype.

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.