Childhood tuberous sclerosis complex in southern Sweden: a paradigm shift in diagnosis and treatment.

AIM: To investigate the complete clinical spectrum of individuals with paediatric tuberous sclerosis complex in southern Sweden and explore changes over time. METHODS: In this retrospective observational study, 52 individuals aged up to 18 years at the study start were followed-up at regional hospitals and centres for habilitation from 2000 to 2020. RESULTS: Cardiac rhabdomyoma was detected prenatally/neonatally in 69.2% of the subjects born during the latest ten years of the study period. Epilepsy was diagnosed in 82.7% of subjects, and 10 (19%) were treated with everolimus, mainly (80%) for a neurological indication. Renal cysts were detected in 53%, angiomyolipomas in 47%, astrocytic hamartomas in 28% of the individuals. There was a paucity of standardized follow-up of cardiac, renal, and ophthalmological manifestations and no structured transition to adult care. CONCLUSION: Our in-depth analysis shows a clear shift towards an earlier diagnosis of tuberous sclerosis complex in the latter part of the study period, where more than 60% of cases showed evidence of this condition already in utero due to the presence of a cardiac rhabdomyoma. This allows for preventive treatment of epilepsy with vigabatrin and early intervention with everolimus for potential mitigation of other symptoms of tuberous sclerosis complex.

Cardiac rhabdomyoma with hydrops fetalis: Prenatal management by abdominal drainage.

OBJECTIVE: We described a case of fetal cardiac rhabdomyoma complicated by hydrops. And we discussed our approach during pregnancy. CASE REPORT: A 23-year-old woman primigravida was referred at 29 weeks of gestation (WG) to prenatal unit for a large hyperechogenic intracardiac mass associated with fetal hydrops. An intrauterine peritoneo-amniotic shunt was placed. Complete regression of ascites and pericardial effusions were observed after 34 WG with drain in good position. CONCLUSION: Cardiac rhabdomyoma is the most common prenatal cardiac tumor. These tumors are benign, asymptomatic and spontaneously regress after birth. However, in some cases, these tumors may cause severe obstructions on the fetal heart and need specific treatment.

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.

Combination percutaneous and medical management of cardiac rhabdomyomas obstructing tricuspid valve inflow: Case report.

BACKGROUND: Cardiac rhabdomyomas can be prenatally diagnosed in patients with tuberous sclerosis complex. Many neonates require no intervention in early life other than close monitoring for regression of tumor over the period of months to years. In rare instances, cardiac rhabdomyomas can result in obstruction to blood flow or decreased ventricular function. CASE REPORT: We describe the case of a neonate who was prenatally diagnosed with multiple large cardiac rhabdomyomas, one of which caused clinically significant obstruction to prograde blood flow across the tricuspid valve in the newborn period. To address the disturbance to prograde pulmonary blood flow, the patient underwent successful ductal stent placement in the neonatal period. A troponin elevation was noted shortly after birth, but no evidence of coronary compression or involvement was demonstrated by coronary angiography. The patient has subsequently been treated with sirolimus over a period of three months, with noted regression in tumors and improvement in tricuspid valve inflow. CONCLUSIONS: A brief review of the literature regarding the diagnosis, treatment, and management of neonatal patients with cardiac rhabdomyomas is presented. A combined percutaneous and medical management approach may be of benefit in future cases of rhabdomyomas causing obstruction to pulmonary blood flow.

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

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.

Cardiac tumors in children: A 20-year review of clinical presentation, diagnostics and treatment.

BACKGROUND: The use of new imaging techniques has contributed significantly to earlier diagnosis and treatment of cardiac tumors. OBJECTIVES: The aim of the study was to analyze data from children with cardiac tumors in terms of clinical presentation, the role of noninvasive diagnostic procedures and the long-term outcome. MATERIAL AND METHODS: The data analyzed retrospectively concerned 30 children in whom cardiac tumors were diagnosed from January 1995 to July 2015. The cardiac evaluation included a review of the subjects' medical records and medical history, a physical examination, standard 12-lead electrocardiography, echocardiography and 24-h Holter ECG monitoring at the time of diagnosis and at 6-12 month intervals during the follow-up at the authors' outpatient clinic. RESULTS: Most of the children did not need cardiac surgery; surgical tumor excision was necessary in 3 cases only. There was 1 death in the follow-up period. Rhabdomyoma was diagnosed in 22 cases, and in 16 of them tuberous sclerosis was confirmed during the follow-up period. In the remaining 8 cases, fibroma was the most likely diagnosis. CONCLUSIONS: The symptomatology of cardiac tumors in children can vary greatly, from the absence of any symptoms up to heart failure and respiratory distress indicating the need for surgical intervention. The diagnosis of cardiac tumors relies almost exclusively on noninvasive imaging techniques. The observations in this study confirm the fact that the most common cardiac tumor in children is rhabdomyoma, which may disappear spontaneously. Most patients with cardiac tumors do not require treatment.

Cardiac rhabdomyoma mimicking haemodynamics of hypoplastic left heart syndrome.

Cardiac rhabdomyomas are rare and often regress spontaneously. However, the management of rhabdomyoma with severe inflow and outflow obstructions is a challenge. An infant with a massive left ventricular rhabdomyoma mimicking the haemodynamics of hypoplastic left heart syndrome is reported. Surgery could not be contemplated because the mitral valve leaflets and chordae were imbedded in the tumour mass. The arterial duct (AD) was kept open to perfuse the systemic circulation and palliations with pulmonary artery branch banding and AD stenting were planned. However; while waiting for spontaneous regression of the tumour, the child died of circulatory collapse when 4 weeks old.

Medical and surgical management of primary cardiac tumours in infants and children.

Primary cardiac tumours in infants and children are extremely rare, with an estimated incidence of 0.2% according to echocardiographic studies. Owing to their rarity, there is very little literature available, and most knowledge is based on collections of case reports. Therefore, we reviewed retrospectively our 27 years of clinical experience on the overall management of cardiac tumours among children in order to improve not only our knowledge but also to provide others with information about the incidence, clinical presentation, management, and long-term outcome of this rare disease. Between April, 1982 and April, 2009, 52 children were diagnosed with cardiac tumours at our Institution. Medical records and follow-up echocardiographic evaluations were studied. The diagnosis was prenatal in 35% of the patients. The most frequent tumour types were rhabdomyomas (61.5%), fibromas (15.4%), and myxomas (5.8%). There were no cases of primary malignant tumours. All diagnoses were achieved using two-dimensional echocardiography, and for 12 patients a pathological analysis was carried out. A total of 41 patients (79%) were managed medically, whereas 11 (21%) patients underwent surgical treatment. At a mean follow-up of 7.2 ± 5.4 years, two patients died of complications related to cardiac transplantation; all the remaining patients are in excellent clinical condition. In conclusion, cardiac tumours in paediatric practice are usually clinically and histologically benign. Only a few cases need surgery. Up to one-third of the cardiac masses are detectable prenatally. Rhabdomyoma is the most common histotype, followed by fibroma and myxoma. The long-term prognosis is generally good.

Haga su diagnóstico / Make your diagnosis

El diagnóstico es Rabdomiomas cardiacos/ Esclerosis tuberosa.

Haga su diagnóstico / Make your diagnosis

El diagnóstico es Rabdomiomas cardiacos/ Esclerosis tuberosa

Cardiac rhabdomyomas associated with tuberous sclerosis complex in 11 children: presentation to outcome.

Cardiac rhabdomyomas (CRs) are the most common heart tumors in children and closely associated with tuberous sclerosis complex (TSC). This study was performed to assess the presentation type, clinical course, treatment modalities, and outcome of the patients with rhabdomyoma, associated with TSC. We reviewed our patients with cardiac rhabdomyomas (CRs), who had received a diagnosis of TSC previously or during the follow-up period between June 1996 and January 2012, retrospectively. Thirty-two patients with TSC were evaluated and among them 11 patients (34%) were associated with CRs. Five patients (45%) had multiple tumors and consequently a total of 29 CRs were analyzed in our study. The median follow-up period was 2 years (range: 1 week-15 years). Clinical presentation was cardiac murmur in three patients, cyanosis in two patients and arrhythmia in one patient. Five patients were asymptomatic at the diagnosis and CRs were detected during routine cardiac evaluation for TSC. Cardiac tumors were diagnosed prenatally in two patients. Spontaneous regression rate was 31% and we experienced a complete regression of a tumor with an echogenic bordered tissue defect and septal thinning in a patient. Three patients had hemodynamically significant tumor obstruction; two of them underwent surgery. The other patient, who had multiple CRs, was treated medically with everolimus because of high-risk potential of surgery. Although surgical resection is the preferred treatment in most of the patients with hemodynamic instability, we need novel alternative medical therapies in some critically ill patients who cannot be operated due to various reasons.

Cardiac rhabdomyoma with LVOT obstruction and anorectal malformation in a neonate: a rare association.

Cardiac rhabdomyomas are described as sporadic as well as associated with tuberous sclerosis. Association with LVOT obstruction with anorectal malformation or imperforate anus has not been reported so far in published literature. In this case report we describe one such case.

Adult extracardiac rhabdomyoma of the parapharyngeal space.

Adult extracardiac rhabdomyoma (ER) is a rare, slowly growing, benign tumor of skeletal-muscle origin that has a strong predilection for the head and neck. Complete surgical resection has been proposed as the treatment of choice. We describe a case of adult ER that manifested as a nasopharyngeal mass. The diagnosis was made by transnasal endoscopic biopsy, and the patient was managed conservatively. We discuss the current knowledge regarding the clinical presentation, diagnosis, and treatment of adult ER of the parapharyngeal space, and we propose a new concept for treating this tumor nonsurgically in appropriately selected patients.

Tuberous sclerosis and cardiac rhabdomyomas: a case report and review of the literature.

Tuberous sclerosis (TS) is an autosomal dominant disorder characterized by benign hamartomas in multiple organ systems, including rhabdomyomas in the heart and subependymal giant cell astrocytomas in the brain. Mutations in the hamartin (TSC1) and tuberin (TSC2) genes have been identified as causative. We report an infant who presented with seizures and cardiac rhabdomyomas and whose diagnosis of TS was confirmed by a TSC2 C1605T nonsense mutation. In addition, we review the literature of cardiac tumors. Despite the typical natural history of tumor regression, lifelong follow-up is necessary for the appropriate management of these patients. Elucidation of the genetics and pathogenesis of cardiac tumors, as illustrated by the TS rhabdomyoma described in this case, may lead to novel therapies.

[Fetal cardiac rhabdomyoma: analysis of five cases]. / Rabdomiomas cardíacos fetais: análise de cinco casos.

PURPOSE: to analyze the differential diagnosis, follow-up and therapeutic approach in five cases of primary cardiac tumors diagnosed during the prenatal period. METHODS: during the period from January 1997 to December 2008, 7989 pregnant women were submitted to morphological ultrasound due to the presence of risk factors for fetal malformations. Fetuses with hyperechogenic intracardiac masses larger than 1 mm diagnosed by ultrasound evaluation of the fetal heart, were selected for study. The differential diagnosis between the different tumor types was made on the basis of the ultrasound characteristics of the masses. RESULTS: five fetuses with hiperechogenic intracardiac masses were diagnosed, corresponding to a 0.06% prevalence rate. Gestational age ranged from 28 to 36 weeks (mean: 31), and maternal age ranged from 23 to 45 years (mean: 34.2). The most frequent location of the masses was the left ventricle (100%). Echographically, all masses were single or multiple, hyperechogenic, homogeneous and well delimited, compatible with a diagnosis of rhabomyoma. In cases in which the diameters of the masses were less than 20 mm, an expectant conduct was followed and no complications occurred during the prenatal period. One case with a huge tumor presented arrhythmia and cardiac insufficiency during the 35 gestational weeks, and the interruption of pregnancy was indicated. Tuberous sclerosis was associated in four cases (80%) and the diagnosis was confirmed during the postnatal follow-up. CONCLUSIONS: fetal morphological ultrasonography is the main form of early detection of primary cardiac tumors. The fetal cardiac evaluation is of fundamental importance for the differential morphological characterization of cardiac masses and for the evaluation of cardiac function. Rhabdomyomas are the most common type of fetal tumor. An expectant pre and postnatal conduct is followed, with a low risk of complications and with the possibility of spontaneous regression in most cases. Postnatal clinical follow-up is mandatory due to the high frequency of associated tuberous sclerosis.

Characterization and management of cardiac tumors.

Cardiac tumors are infrequent clinical entities with an autopsy frequency ranging from 0.001% to 0.030%. The occurrence of metastatic cardiac tumors has been reported a 100-fold more commonly than primary lesions. Three quarters of primary cardiac tumors are benign; approximately half of these are cardiac myxomas, and the rest are lipomas, papillary fibroelastomas, and rhabdomyomas. Among malignant primary cardiac tumors, the most reported are those histopathologically considered as undifferentiated, followed by angiosarcomas and leiomyosarcomas. Traditionally, cardiac tumors have been identified as curious autopsy findings resulting in a literature paucity of large clinical series, therefore, providing knowledge mostly based on case report collection. However, recent technological advances in noninvasive imaging modalities such as echocardiography and cardiac magnetic resonance imaging (MRI) have resulted in a rapid acquisition of real-time heart images with high spatial and temporal resolution and an excellent tissue characterization of the tumor. This consequent earlier, more frequent, and more complete assessment of cardiac tumors before significant symptoms develop has challenged cardiologists, cardiac anesthesiologists, and surgeons to create a tailored referral pattern and approach.

Rabdomiomas cardíacos fetais: análise de cinco casos / Fetal cardiac rhabdomyoma: analysis of five cases

OBJETIVO: analisar o diagnóstico, evolução e conduta terapêutica em cinco casos de tumores cardíacos primários diagnosticados no período pré-natal. MÉTODOS: no período de Janeiro 1997 a Dezembro 2008, 7.989 gestantes foram submetidas à avaliação ultrassonográfica morfológica fetal devido à presença de fatores de risco para malformações fetais. Foram selecionados os casos com massas hipercogênicas intracardíaca maiores que 1 mm diagnosticados na avaliação ultrassonográfica do coração fetal. O diagnóstico diferencial dos tumores foi realizado segundo as características ultrassonográficas das massas. RESULTADOS: em cinco fetos foram diagnosticadas massas hiperecogênicas intracardíaca correspondendo a uma taxa de prevalência de 0,06 por cento. A idade gestacional variou entre a 28ª e a 36ª semanas (média=31) e a idade materna variou de 23 a 45 anos (média=34,2). A localização mais frequente das massas foi o ventrículo esquerdo (100 por cento). Ecograficamente, todas as massas eram hipercogênicas, homogêneas, únicas ou múltiplas e bem delimitadas, compatíveis com diagnóstico de um rabdomioma. Nos casos em que os diâmetros das massas foram menores que 20 mm, a conduta foi expectante e não houve complicações no período pré-natal. Um caso com tumor de grande volume apresentou arritmia e insuficiência cardíaca na 35ª semana de gestação, sendo indicada a interrupção da gestação. Em 80 por cento dos casos foi observada associação com esclerose tuberosa no seguimento pós-natal. A regressão dos tumores cardíacos ocorreu em três casos (60 por cento) durante um seguimento médio de três anos. Todos os recém-nascidos eram do sexo masculino e sem antecedentes familiares de esclerose tuberosa. CONCLUSÕES: a avaliação ultrassonográfica morfológica fetal é a principal forma de detecção precoce dos tumores cardíacos primários. A avaliação cardíaca fetal é fundamental para a caracterização morfológica diferencial das massas cardíacas e para avaliação funcional cardíaca...

PURPOSE: to analyze the differential diagnosis, follow-up and therapeutic approach in five cases of primary cardiac tumors diagnosed during the prenatal period. METHODS: during the period from January 1997 to December 2008, 7989 pregnant women were submitted to morphological ultrasound due to the presence of risk factors for fetal malformations. Fetuses with hyperechogenic intracardiac masses larger than 1 mm diagnosed by ultrasound evaluation of the fetal heart, were selected for study. The differential diagnosis between the different tumor types was made on the basis of the ultrasound characteristics of the masses. RESULTS: five fetuses with hiperechogenic intracardiac masses were diagnosed, corresponding to a 0.06 percent prevalence rate. Gestational age ranged from 28 to 36 weeks (mean: 31), and maternal age ranged from 23 to 45 years (mean: 34,2). The most frequent location of the masses was the left ventricle (100 percent). Echographically, all masses were single or multiple, hyperechogenic, homogeneous and well delimited, compatible with a diagnosis of rhabomyoma. In cases in which the diameters of the masses were less than 20 mm, an expectant conduct was followed and no complications occurred during the prenatal period. One case with a huge tumor presented arrhythmia and cardiac insufficiency during the 35 gestational weeks, and the interruption of pregnancy was indicated. Tuberous sclerosis was associated in four cases (80 percent) and the diagnosis was confirmed during the postnatal follow-up. CONCLUSIONS: fetal morphological ultrasonography is the main form of early detection of primary cardiac tumors. The fetal cardiac evaluation is of fundamental importance for the differential morphological characterization of cardiac masses and for the evaluation of cardiac function. Rhabdomyomas are the most common type of fetal tumor. An expectant pre and postnatal conduct is followed, with a low risk of complications and with the possibility of spontaneous...

Fetal and neonatal cardiac rhabdomyomas: clinical presentation, outcome and association with tuberous sclerosis complex.

Rhabdomyoma is the most common pediatric heart tumor. Cardiac rhabdomyomas (CRs) have a natural history of spontaneous regression and are closely associated with tuberous sclerosis complex (TSC). We aimed to evaluate the clinical presentation and outcome of CRs and their association with TSC. Patients with CRs diagnosed in last six years were retrospectively analyzed. A total of 25 tumors were identified in seven patients by echocardiography. Three patients were diagnosed prenatally by fetal echocardiography, three patients in the neonatal period and one patient in early infancy. The median followup period was two years (range: 5 months-6 years). Five patients (71%) had multiple tumors. Three patients had arrhythmias and two patients required surgery. Only 36% (9/25) of the tumors regressed. TSC was diagnosed in four patients during the follow-up. CRs may have different presentations and clinical course. Surgery is only necessary when hemodynamically significant obstruction is present. As CRs are associated with long-term development of TSC and other diagnostic features are not yet typically apparent in the prenatal and neonatal periods, careful evaluation and follow-up are essential to exclude TSC.