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.

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.

Rabdomioma cardíaco / Cardiac rhabdomyoma

El rabdomioma es un tumor benigno cardíaco primario. Se describe un recién nacido de 4 días de edad, producto de parto eutócico a las 40 semanas de edad gestacional y buen peso al nacer, nacido vía transpelviana sin morbilidad perinatal, test de Apgar 9/9, que a las pocas horas de vida se le ausculta soplo cardiaco de intensidad III/VI, sin otros signos clínicos. La evaluación ecocardiográfica reveló masa tumoral pediculada con características obstructivas del tractus de salida del ventrículo izquierdo, que genera gradiente a ese nivel de alrededor de 80 mmHg. Se realizó exéresis del tumor de base ancha, aspecto nacarado y superficie lisa a través de aortotomía oblicua, con circulación extracorpórea. El curso posoperatorio fue sin complicaciones. El paciente evoluciona sin residuos ni secuelas a los 12 meses de seguimiento.

Rhabdomyoma is a primary cardiac benign tumor. This report described a 4 days-old newborn born to eutocic delivery at 40 weeks of gestational age and good birthweight. He was born through transpelvic route with no perinatal morbidity, Apgar test of 9/9, but few hours after birth, he was detected an intensity II/IV cardiac murmur with no other clinical signs. The echocardiographic results showed pedicled tumor mass with obstructive characteristics of the outlet tract of the left ventricle, thus generating around 80 mmHg gradient at that level. This wide-base, pearly and flat surface tumor was excised by means of oblique aortotomy using extracorporeal circulation. The postoperative phase was uncomplicated. The patient recovers with neither residues nor sequelae after 12 months of follow/up.

Tumores cardíacos em criança: análise retrospectiva / Heart neoplasms in children: retrospective analysis

FUNDAMENTO: Avanço dos métodos não invasivos de imagem proporcionou o aumento no número de diagnóstico de tumores cardíacos. Apesar disso, a literatura apresenta poucos trabalhos envolvendo tumores cardíacos primários em crianças. OBJETIVO: Avaliar retrospectivamente casos de tumores cardíacos primários em crianças, considerando manifestações clínicas iniciais, exames utilizados para o diagnóstico, indicação cirúrgica, tipos histopatológicos encontrados e evolução pós-operatória imediata. MÉTODOS: O estudo foi retrospectivo, baseado na avaliação de prontuários no período de 1983 a 2011. Incluímos somente casos que foram orientados para tratamento cirúrgico no período. Avaliaram-se a idade na admissão, o diagnóstico pré-natal, a história familial, os sintomas iniciais e os resultados de exames realizados. Foram coletados, ainda, a data e indicação de cirurgia, os achados intraoperatórios, o resultado do exame histopatológico, assim como as complicações imediatas no pós-operatório. RESULTADOS: Dos 18 pacientes estudados, as manifestações clínicas mais encontradas foram dispneia e sopro cardíaco (7 e 6 pacientes, respectivamente); o método de complemento diagnóstico mais usado foi o ecocardiograma (18 pacientes); a obstrução cavitária ou do trato de entrada ou saída ventricular foi a principal indicação de cirurgia (12 casos); o perfil histológico mais encontrado foi rabdomioma (7 pacientes); a maioria dos pacientes apresentou boa evolução clínica. CONCLUSÃO: Neste estudo o diagnóstico por imagem foi basicamente ecocardiográfico, com boa correlação com os achados intraoperatórios. Os achados histopatológicos foram concordantes com a literatura, com o rabdomioma apresentando-se como o tumor mais comum em crianças. A evolução após tratamento cirúrgico mostrou-se favorável na maior parte dos casos.

BACKGROUND: The advancement of noninvasive imaging methods has resulted in the increase in diagnosis of heart neoplasms. However, the literature has few studies involving primary cardiac neoplasms in children. OBJECTIVE: To retrospectively review cases of primary heart neoplasms in children, considering the initial clinical manifestations, diagnostic tests used, surgical indication, histopathological types and immediate postoperative course. METHODS: The retrospective study was based on the assessment of medical records from 1983 to 2011. Only cases that were referred for surgical treatment during that period were included. Age at admission, prenatal diagnosis, family history, initial symptoms and the results of performed tests were assessed. Moreover, the date and indication of the surgery, intraoperative findings, the result of the histopathological analysis, as well as the immediate postoperative complications were recorded. RESULTS: Of the 18 patients studied, the most frequent clinical manifestations were dyspnea and heart murmur (7 and 6 patients, respectively); the most often used adjunct diagnostic method was echocardiography (18 patients); cavitary obstruction or ventricular inflow or outflow tract obstruction was the main indication for surgery (12 cases); the most common histological profile was rhabdomyoma (7 patients) and most patients showed good clinical outcome. CONCLUSIONS: In this study, imaging diagnosis was basically attained through echocardiography, with good correlation with intraoperative findings. Histopathological findings were consistent with the literature, with rhabdomyoma being the most common neoplasm in children. The evolution after surgical treatment was favorable in most cases.

Rhabdomyomatous mesenchymal hamartoma clinical overview and report of a case with spontaneous regression / Hamartoma mesenquimal rhabdomiomatoso panorama clínico y reporte de un caso con regresión espontánea

A case of cutaneous rhabdomyomatous mesenchymal hamartoma in a 6-year old Afro-Caribbean girl is reported with review of the literature. The lesions were fine, located on the central face and became inapparent after six months. Spontaneous regression of these lesions has not been previously reported. Although rare, continued reporting will facilitate the elucidation of the clinical features and natural history of these lesions and the relationship to disordered embryogenesis.

Un caso de hamartoma mesenquimal rhabdomiomatoso cutáneo en una niña afrocaribeña de seis años de edad, se reporta junto con una revisión de la literatura. Las lesiones eran tenues, localizadas en la parte central de la cara, y se hicieron aparentes luego de seis meses. La regresión espontánea de estas lesiones no se ha reportado con anterioridad. Aunque sean raras, reportarlas de manera continuada facilitará la dilucidación de los rasgos clínicos y la historia natural de estas lesiones, así como su relación con una embriogénesis desordenada.

Rabdomioma cardiaco tratado quirúrgicamente con éxito y revisión de la literatura / Cardiac rhabdomyoma surgically treated with success. Review of literature

Los tumores cardiacos primarios son raros, con incidencia variable en todas las edades del 0.005 al 0.05%. En pacientes pediátricos, la incidencia es del 0.27%. Los tumores más frecuentes durante la infancia son los rabdomiomas cardiacos, considerados como benignos. Aunque la expresión clínica es amplia, en la mayoría de los casos son asintomáticos y se detectan por la presencia de soplos. En la etapa prenatal se manifiestan con arritmias o hydrops fetalis. En algunos neonatos y lactantes se encuentran arritmias, datos de bajo gasto cardíaco o muerte súbita. La asociación con esclerosis tuberosa se ha observado hasta en un 81%. Se presenta el caso de paciente masculino neonato, con diagnóstico de rabdomioma cardiaco que inicialmente estaba asintomático, sin embargo en el seguimiento requirió de tratamiento quirúrgico a los 5 meses de edad, por datos de insuficiencia cardiaca secundaria a obstrucción del tracto de salida del ventrículo derecho. A 5 meses de la cirugía, el paciente está asintomático.

The primary cardiac tumors are inusual, the incidence varies in all the ages between 0.005 to 0.05%. In pediatrics patients the incidence is 0.27%. The more frequent tumors during the childhood are the cardiac rhabdomyomas. These tumors are considered benigns. The clinical expression is wide, in the most the cases, the patients are asymptomatic and are detected by murmurs. In the prenatal age are manifested by arrhythmias or hydrops fetalis. The neonates and children may be show cardiac arrhythmias, low cardiac index and sudden cardiac death. The association with tuberous sclerosis had been reported in 81%.We presenta neonate with cardiac rhabdomyoma diagnosed in the newborn period when he was asymptomatic, however in the follow-up he developed cardiac failure by obstruction in the out flow tract of the right ventricle. He underwent open cardiac surgery to resect the obstruction. Five months after surgery, the patient remain asymptomatic.

Rabdomioma gigante intracardíaco en la etapa neonatal. Reporte de un caso / Giantintracardiaac rhabdomymma

Los tumores primarios del corazón son poco comunes. Los más frecuentes durante la niñez son los rabdomiomas. El diagnóstico puede efectuarse desde la etapa fetal. La evolución es variada, en algunos casos no existe sintomatología y el diagnóstico representa un hallazgo ecocardiográfico, en otros se manifiesta por la presencia de soplo cardíaco, otros más se detectan asociados con esclerosis tuberosa y un pequeño grupo se manifiesta por arritmias o bajo gasto. Por lo raro de su presentación sobre todo en etapa fetal se presenta este caso.

Primary heart tumors are not very common, frequent ones during childhood are the rhabdomyomas. This diagnostic can be made since fetal life. Evolution variates, in some cases there are no symptoms and the diagnostic represents an echocardiographic finding, other cases are detected associated with tuberous sclerosis and a small group express by arrhythmias or low output. Because of the strange of this presentation this case is presented. (Arch Cardiol Mex 2004; 74:49-52).

Sublingual adult rhabdomyoma: a case report / Rabdomioma sublingual: relato de um caso clínico

O rabdomioma do tipo adulto é um tumor benigno raro, que ocorre principalmente na regiäo de cabeça e pescoço. É relatado um caso de rabdomioma sublingual em paciente do sexo feminino de 41 anos. Foi realizada a excisäo cirúrgica da lesäo e, após um ano do tratamento, näo foi observada recidiva

Tumores cardíacos: 10 anos de experiência / Cardiac tumors: 10 year experience

Objetivo: Avaliar a experiência cirúrgica do grupo no tratamento dos tumores cardíacos durante o período de janeiro de 1985 a dezembro de 1994. Casuística e Métodos: De um total de 2268 cirurgias cardíacas com circulaçäo extracorpórea realizadas neste período de 10 anos, 6 foram para extirpaçäo de tumores intracavitários, perfazendo 0,26 por cento dos casos. Destes, 3 eram mixomas de átrio esquerdo, 1 fibroelastoma papilar de valva mitral, 1 rabdomioma de ventrículo esquerdo e 1 fibroma de ventrículo esquerdo. A forma clínica de apresentaçäo foi embolia sistêmica (3 casos) ou insuficiência cardíaca (3 casos). O diagnóstico foi ecocardiográfico (5 casos) e angiográfico (6 casos). Resultados: Todos os pacientes tiveram evoluçäo imediata favorável, exceto 1 deles, com mixoma de átrio esquerdo, que evoluiu com mediastinite e septicemia, vindo a falecer e constituindo o único óbito hospitalar. O seguimento pós-operatório tardio, obtido em 4 pacientes (15 a 111 meses - média 49 + 36,8 meses), näo detectou qualquer recidiva, encontrando-se todos em classe funcional I (NYHA). Conclusöes: Os autores concluem que os tumores cardíacos säo bastante raros, de fácil diagnóstico desde que considerados, na grande maioria benignos e que cursam favoravelmente com a extirpaçäo cirúrgica.

Esclerose tuberosa com rabdomioma de ventrículo esquerdo / Tuberous sclerosis associated with a left ventricle rabdomioma

Lactente do sexo feminino com espasmos em flexäo, manchas hipocrômicas na pele e sopro sistólico de ejeçäo. O diagnóstico clínico, apoiado por tomografia de crânio e neurossonografia, foi de esclerose tuberosa. Ecocardiograma e cineangiocardiografia revelaram tumor em via de saída do ventrículo esquerdo associado. Após a ressecçäo do rabdomioma a paciente evoluiu assintomática, controlado o quadro neurológico com ácido valpróico

Female infant, presenting with flexion spasms, skin hypochromatic spots and systolic ejection murmur. A clinical diagnosis of tuberous sclerosis, supported by computerized brain tomography and neurossonographic data, was made. Echocardiographic and cineangiocardiographic studies disclosed an associated tumor in left ventricle outlet. After ressection of the rhabdomyoma, the patient is assymptomatic with neural manifestations controlled under valproic acid.

Rabdomioma del piso de boca / Oral Floor Rhabdomyoma

Se presenta un caso de Rabdomioma adulto de piso de boca, tratado quirúrgicamente y documentado. Además mencionamos las características clínicas y su anatomía patológica, que en la actualidad lo hacen fácilmente diagnosticable. Coincidimos con otros autores, por nuestra revisión de archivos y casuística realizada en el Hospital Córdoba sobre la inusal presentación de esta patología

Rebdomioma intracardíaco: procedimientos, diagnósticos y tratamiento / Intracardiac rhabdomyoma: diagnostic and treatment

Presentamos 12 casos de rabdomioma intracardíaco. Revisamos la edad, formas clínicas de presentación y los hallazgos en las exploraciones complementarias. El diagnóstico de tumor intracardíaco se hizo por ecocardiografía en 11 casos; un caso con afectación miocárdica difusa fue diagnosticado inicialmente de miocardiopatía hipertrófica. Se indicó tratamiento quirúrgico en 8 casos, por presentar distintas formas de obstrucción al flujo sanguíneo intracardíaco, realizándose en 7. El diagnóstico de rabdomioma se confirmó en 9 casos por estudio histológico. De los 12 casos viven actualmente 8, 5 operados y 3 sin operar, todos asintomáticos cardiológicamente; 5 (62%) presentan manifestaciones neurocutáneas de esclerosis tuberosa

Rabdomioma do coraçäo: relato de um caso operado com sucesso / Rhabdomyoma of the heart: report of a case operated with success

Numa criança de 11 meses de idade, com diagnóstico clínico de obstruçäo de via de saída do ventrículo direito (VD), a angiografia e a ecocardiografia fizeram o diagnóstico presuntivo de rabdomioma do coraçäo. A intervençäo cirúrgica confirmou o diagnóstico tendo sido ressecados com sucesso 5 massas tumorosas, 3 de VD e 2 de ventrículo esquerdo. No 54§ mês de evoluçäo pós-operatória, näo há sinais de recidiva e a criança encontrava-se bem