Association between cardiac tumors and tuberous sclerosis in the fetus and neonate

doi:10.1016/S0002-9149(03)00677-5

The American Journal of Cardiology

Volume 92, Issue 4, 15 August 2003, Pages 487-489

https://doi.org/10.1016/S0002-9149(03)00677-5 Get rights and content

Abstract

A retrospective review was performed in 94 patients with ≥1 cardiac tumors seen on prenatal or neonatal echocardiography at 5 major referral centers. Tuberous sclerosis was present in 68 patients diagnosed with a cardac tumor in utero or during the neonatal period, including 61 of 64 with multiple tumors.

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Cited by (130)

Fetal and postnatal diagnosis and management of cardiac rhabdomyomas and association with tuberous sclerosis complex
2023, Cirugia Cardiovascular
Cardiac rhabdomyomas are the most frequently seen pediatric cardiac tumors and are predominantly associated with tuberous sclerosis complex. These tumors often shrink and disappear spontaneously. This study evaluated the clinical and echocardiographic data of patients followed up in our Pediatric Cardiology Clinic for cardiac rhabdomyoma.
This study included patients with cardiac rhabdomyoma detected by echocardiography between 2008 and 2021. Data regarding the patients’ age at diagnosis, symptoms, physical examination findings, electrocardiography, 24-h Holter recordings, echocardiography, and follow-up data were obtained from the hospital records.
The age of the patients at the time of diagnosis ranged from 21-weeks gestational age to postnatal 10-months. A total of 49 tumors were detected in 10 patients. In all but 2 patients, the tumor was asymptomatic and the hemodynamic changes were not significant. One patient required surgery due to significant left ventricular outflow tract obstruction. Everolimus treatment was administered to 1 patient with right ventricular outflow tract obstruction. Five of the patients were diagnosed with tuberous sclerosis complex during the follow-ups. Except 1 patient who died post-surgery, the others demonstrated substantial regression of the tumors during the ongoing follow-ups.
Although it is a rare tumor, cardiac rhabdomyoma may lead to life-threatening symptoms. They are typically asymptomatic and usually resolve spontaneously. Novel medical treatments, such as everolimus, are promising as an alternative to surgery in patients with hemodynamic deterioration.
Los rabdomiomas cardiacos son los tumores cardiacos pediátricos más frecuentes y se asocian predominantemente con el complejo de esclerosis tuberosa. Estos tumores a menudo se encogen y desaparecen espontáneamente. Este estudio evaluó los datos clínicos y ecocardiográficos de pacientes seguidos en nuestra Clínica de Cardiología Pediátrica por rabdomioma cardiaco.
El presente estudio incluyó pacientes con rabdomioma cardiaco detectado por ecocardiografía entre 2008 y 2021. Los datos sobre la edad de los pacientes al diagnóstico, síntomas, hallazgos del examen físico, electrocardiografía, registros Holter de 24 horas, ecocardiografía y datos de seguimiento se obtuvieron de los registros hospitalarios.
La edad de los pacientes al momento del diagnóstico osciló entre 21 semanas de edad gestacional y 10 meses posnatales. Se detectaron un total de 49 tumores en 10 pacientes. En todos menos en dos pacientes el tumor fue asintomático y los cambios hemodinámicos no fueron significativos. Un paciente requirió cirugía por obstrucción importante del tracto de salida del ventrículo izquierdo. Se administró tratamiento con everolimus a un paciente con obstrucción del tracto de salida del ventrículo derecho. Cinco de los pacientes fueron diagnosticados con complejo de esclerosis tuberosa durante los seguimientos. Excepto un paciente que murió después de la cirugía, los demás demostraron una regresión sustancial de los tumores durante los seguimientos en curso.
Aunque es un tumor raro, el rabdomioma cardiaco puede causar síntomas potencialmente mortales. Por lo general, son asintomáticos y generalmente se resuelven espontáneamente. Nuevos tratamientos médicos como el everolimus, son prometedores como alternativa a la cirugía en pacientes con deterioro hemodinámico.
Cardiac Masses Discovered by Echocardiogram; What to Do Next?
2023, Structural Heart
Cardiac tumors are rare conditions, typically diagnosed on autopsy, but with the advancement of imaging techniques they are now encountered more frequently in clinical practice. Echocardiography is often the initial method of investigation for cardiac masses and provides a quick and valuable springboard for their characterization. While some cardiac masses can be readily identified by echocardiography alone, several require incorporation of multiple data points to reach diagnostic certainty. Herein, we will provide an overview of the main clinical, diagnostic, and therapeutic characteristics of cardiac masses within the framework of their location.
Prenatal diagnosis of tuberous sclerosis complex: Echocardiography, cranial magnetic resonance, and genetic testing of 40 cases with fetal cardiac tumors
2023, Heliyon
To explore the relationship between Tuberous sclerosis complex (TSC) and cardiac tumors at our institution over the past five years and to evaluate the value of imaging technologies and genetic testing in the prenatal diagnosis of TSC.
Fetal echocardiography (FE) was performed in the whole population between 2016 and 2020. Fetuses detected with cardiac tumor(s) were included. Fetal cranial magnetic resonance imaging (MRI) and gene mutation tests were further examined. Those who declined genetic testing were excluded in the final analysis.
A total of 40 fetuses were included in our study. There were 27 cases performed cranial magnetic resonance imaging (MRI) and the rest of 13 cases refused. Among 10 fetuses with cranial lesions detected by MRI, all of them were eventually diagnosed with TSC. And for 17 fetuses without cranial lesions, none of them were identified with a pathogenic variation in gene TSC1/2. The prevalence of TSC was significantly higher in the multiple tumors group than in the solitary group (9/20 vs. 2/20, P = 0.034). 11 fetuses had TSC1 (n = 3) or TSC2 (n = 8) causative or suspected causative mutations, of which 9 were sporadic mutations and 2 were familial mutations.
Fetal cranial MRI should be recommended to evaluate brain lesions, and genetic mutation should be examined, if possible, especially for those with multiple heart tumors. When typical cardiac tumors and cranial lesions are detected, the diagnosis of TSC can almost be made even without genetic mutation results.
Tuberous Sclerosis Complex: Genetic counselling and perinatal follow-up
2022, Archives de Pediatrie
Tuberous sclerosis is an autosomal dominant disorder almost fully penetrant with highly variable expression. Most cases are de novo and this diagnosis is sometimes considered during prenatal life in case of cardiac tumor, unique or multiple. The couple should be referred to a specialized tertiary prenatal care center for expertise and information. Fetal molecular testing of the two genes TSC1 and TSC2 is often informative. Prognosis determination for Tuberous Sclerosis remains a difficult task. Cardiac tumors can be sometimes worrying but only a minority will have a pejorative issue and most cases are asymptomatic without any therapeutic intervention needed. Only few cases need surgical or medical treatment. Patients with Tuberous Sclerosis can develop skin, eye, kidney or lung lesions later on, but they are either of limited consequence or treatable. The crux of the matter is the neurological involvement with frequent intellectual deficiency and epilepsy that can be drug-resistant. The absence of lesion on fetal brain MRI is not predictive of any prognosis and does not rule out Tuberous Sclerosis. De novo TSC2 mutation is a negative prognosis factor and conversely, an inherited TSC1 mutation is a more favorable one, but with a severe issue still possible. Facing this cautious prognosis, some couple may opt for termination of pregnancy while others decide to pursue it. It is then fundamental to set cardiac and neurological regular follow-up for these newborns.
© 2022 French Society of Pediatrics. Published by Elsevier Masson SAS. All rights reserved.
Accuracy of Cardiac Magnetic Resonance Imaging in Diagnosing Pediatric Cardiac Masses: A Multicenter Study
2022, JACC: Cardiovascular Imaging
Citation Excerpt :
Typically, rhabdomyomas present as multiple tumors in the fetus or neonate, and the tumors regress as children age.5 The identification of multiple masses by echocardiogram, and a genetic diagnosis of tuberous sclerosis are often sufficient for the diagnosis of rhabdomyoma, without the need for CMR.6 In the current study, 11 of 32 patients were older than 1 year at the time of CMR (the oldest was 8 years), and 72% of patients had an atypical solitary mass, reflecting a referral bias.
After diagnosis of a cardiac mass, clinicians must weigh the benefits and risks of ascertaining a tissue diagnosis. Limited data are available on the accuracy of previously developed noninvasive pediatric cardiac magnetic resonance (CMR)-based diagnostic criteria.
The goals of this study were to: 1) evaluate the CMR characteristics of pediatric cardiac masses from a large international cohort; 2) test the accuracy of previously developed CMR-based diagnostic criteria; and 3) expand diagnostic criteria using new information.
CMR studies (children 0-18 years of age) with confirmatory histological and/or genetic diagnosis were analyzed by 2 reviewers, without knowledge of prior diagnosis. Diagnostic accuracy was graded as: 1) single correct diagnosis; 2) correct diagnosis among a differential; or 3) incorrect diagnosis.
Of 213 cases, 174 (82%) had diagnoses that were represented in the previously published diagnostic criteria. In 70% of 174 cases, both reviewers achieved a single correct diagnosis (94% of fibromas, 71% of rhabdomyomas, and 50% of myxomas). When ≤2 differential diagnoses were included, both reviewers reached a correct diagnosis in 86% of cases. Of 29 malignant tumors, both reviewers indicated malignancy as a single diagnosis in 52% of cases. Including ≤2 differential diagnoses, both reviewers indicated malignancy in 83% of cases. Of 6 CMR sequences examined, acquisition of first-pass perfusion and late gadolinium enhancement were independently associated with a higher likelihood of a single correct diagnosis.
CMR of cardiac masses in children leads to an accurate diagnosis in most cases. A comprehensive imaging protocol is associated with higher diagnostic accuracy.
Surgical features of benign cardiac masses
2022, Multimodal Imaging Atlas of Cardiac Masses
Benign cardiac masses are a rare entity and are characterized by their propensity to present under the guise of clinical manifestations also associated with other more common and lethal syndromes. Apart from this, the majority of patients with benign cardiac masses are asymptomatic, and detection is often incidental or at postmortem. Imaging and biopsy are the mainstay of diagnosis for such masses; therefore, an appreciation of the surgical features thereof is vital. The majority of benign cardiac masses can be curatively treated by prompt surgical excision.

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Brief reportsAssociation between cardiac tumors and tuberous sclerosis in the fetus and neonate

Abstract

Eur J Paediatr Neurol

J Am Coll Cardiol

Tuberous sclerosis complex in children

Am J Dis Child

Tuberous sclerosis complex consensus conferencerevised clinical diagnostic criteria

J Child Neurol

National Institutes of Health consensus conferencetuberous sclerosis complex

Arch Neurol

Tuberous sclerosis complex and neonatal seizures

J Child Neurol

Cardiac tumours in intrauterine life

Arch Dis Child

Primary heart tumors in the pediatric age groupa review of salient pathologic features relevant for clinicians

Pediatr Cardiol

Selected aspects of cardiac tumors in infancy and childhood

Pediatr Cardiol

Brief reports
Association between cardiac tumors and tuberous sclerosis in the fetus and neonate