Assuntos

RESUMO

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)

Assuntos

RESUMO

INTRODUCTION: The association between cardiac rhabdomyoma and intraventricular tumors and/or subcortical nodules is characteristic of tuberous sclerosis complex (TSC). Patients with TSC may have refractory seizures, autistic behavior, and cognitive decline. CASE REPORT: The patient received the fetal diagnosis of TSC at the age of 19 weeks of gestations, where presented at prenatal ultrasound cardiac and brain tumors. Fetal MRI showed a lesion in the right and left lateral ventricles near the foramen of Monro associated with subependymal lesions along the entire ependyma of the lateral ventricles and several subcortical tubercles, and the fetal Doppler echocardiogram revealed three cardiac lesions. The fetus underwent intrauterine treatment with everolimus and presented regression and subsequent stabilization of the cardiac and brain lesions; additionally, the patient did not develop seizures or autism and presented good neuropsychomotor development. CONCLUSION: It is the first evidence that mTOR inhibitors may help to prevent neurological complications associated with TSC.

Assuntos

RESUMO

Objective: To report a case of prenatal diagnosis of cardiac rhabdomyoma (CR) and neonatal surgical treatment as well as undertaking a systematic review of the literature to determine most frequent localization of CR, common signs and symptoms, associated pathologies, incidence of surgery, and prognoses for CR.Methods: We conducted systematic review of the literature on CR that were diagnosed and treated in the perinatal period, searching for English language articles in the PubMed/Medline database that were published within the past 20 years, using the following search terms: "cardiac rhabdomyoma"; "neonates"; "newborn"; "surgery".Results: Eighty-two studies were selected, but only 46 studies met the inclusion criteria. After birth, the majority of newborns were asymptomatic; however, murmurs and arrhythmia were also the two most prevalent signs of CR. The most prevalent location was the ventricles, corresponding to 40.3% of all cases, with 53% of these having a rhabdomyoma in the left ventricle. The incidence of multiple tumors was 56%, and in those cases the location of tumors was also most common in the ventricles. Tuberous sclerosis was the most commonly associated pathology, being present in 72% of cases of CR. Surgical treatment occurred in 27% of cases, and 3% of cases required surgery and prostaglandin. Regarding the perinatal outcome, 6% of cases resulted in fetal or neonatal death.Conclusion: CR are benign tumors which tend to spontaneously regress during early childhood but may have unfavorable outcomes in the presence of obstructive lesions and arrhythmias. Surgery is generally necessary in symptomatic patients.

Assuntos

RESUMO

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.

Assuntos

RESUMO

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.

Assuntos

RESUMO

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.

Assuntos

RESUMO

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.

Assuntos

RESUMO

IntroductionIntracardiac rhabdomyomas can cause severe ventricular dysfunction and outflow tract obstruction.Case reportA term newborn infant with antenatal diagnosis of giant left ventricle rhabdomyoma presented with cardiac failure and duct-dependent systemic circulation after birth. She was treated successfully with everolimus, showing decrease in tumour size and improvement in left ventricular ejection fraction.DiscussionTumour regression rate was 0.32 cm2/day and improved to 0.80 cm2/day with the use of everolimus. Herein we report a newborn with inoperable giant left ventricular cardiac rhabdomyoma and significant regression of the tumour. To our knowledge, this is the largest left ventricular rhabdomyoma reported. A review of the literature was undertaken for comparison. CONCLUSION: Everolimus has proven to be efficacious in size reduction of cardiac rhabdomyomas in cases when surgical resection is not possible.

Assuntos

Assuntos