Perinatal unusual rhabdomyoma location - case report and systematic reviews of the literature.

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.

[Multiple hypochromic or achromic macules in children and risk of tuberous sclerosis]. / Macules hypochromiques ou achromiques multiples de l'enfant et risque de sclérose tubéreuse de Bourneville.

AIM: To describe in a large paediatric cohort the characteristics of hypopigmented and depigmented (hypochromatic and achromic) macules with no clear diagnosis but potentially evocative of tuberous sclerosis (TS). PATIENTS AND METHODS: This was a retrospective multicentre study performed between 2010 and 2017 at a reference centre for rare skin diseases; it included all children consulting for hypochromic and achromic macules. A descriptive analysis was made of the characteristics of macules with no clear diagnosis, enabling them to be classified in three secondary groups: TS certain, TS ruled out, TS uncertain. RESULTS: Of the 3300 children seen during this 7-year period 7,265 were consulting for hypochromic or achromic macules, with no clear diagnosis in 18 cases: 7 girls and 11 boys of median age at 7.21 years (range: 4 months to 16 years and 7 months). The lesions were congenital in 7 cases. The number of macules varied, with over 20 in some cases. The majority were in the form of ash-leaf spots, followed by the oval form. Two children were diagnosed at clinical examination, and 16 underwent it is not examinations, resulting in a diagnosis of certain ST in 6 of these cases. No particular characteristics of the macules appeared to guide the clinical examination towards ST or isolated lesions. Café-au-lait spots were more frequent in the group in which ST was ruled out than in the other two groups: 67% vs. 33% and 33%. Neurologic involvement was more common in children with certain or uncertain ST than in children in whom ST was ruled out (83% and 67% vs. 11%). CONCLUSION: No identified characteristics of stains enabled the clinical examination to confirm or rule out tuberous sclerosis. Screening for acute any signs of ST is essential. Diagnostic efficacy is enhanced by additional exams.

Identification and clinical course of 166 pediatric cardiac tumors.

The aim of this study was to investigate the pathological classifications, clinical features, and natural history of pediatric cardiac tumors to provide a basis for the selection of an appropriate therapeutic method. The medical records of in- or outpatients with cardiac tumors at four hospitals were classified to analyze various types of tumor growth locations, clinical manifestations, surgical indications, and long-term follow-up results. There were 166 patients, including 158 with primary cardiac tumors, six with metastatic cardiac tumors, and two with unclassified cardiac tumors. Among the 158 cases of primary cardiac tumor, 150 were benign and eight were malignant. The rhabdomyoma, fibroma, and myxoma are the most common types of benign cardiac tumors. The major clinical manifestations of cardiac tumors include outflow tract obstruction, arrhythmia, dyspnea, pericardial effusion, heart failure, and seizures. Among the 59 patients who underwent surgery, 49 had primary benign cardiac tumors, eight had primary malignant tumors, and two had malignant metastatic tumors. Post-surgery, nine of the patients had residual tumor tissues that did not significantly affect their hemodynamics. Following surgery, there were two cases of recurrence and nine deaths, including four of benign and five of malignant tumors with mortality rates of 8.2 and 50.0 %, respectively. Of the remaining 107 cases of patients who did not undergo surgery, five (4.7 %) died. CONCLUSION: The primary benign cardiac tumors are the predominant pediatric cardiac tumors, of which rhabdomyoma, fibroma, and myxoma are the most common types. If severe symptoms are nonexistent and the hemodynamics is unaffected, most of the patients can survive in the long term despite the tumors. What is known: • Pediatric cardiac tumors are rare and are predominantly primary and benign. • The symptoms of heart failure, arrhythmia, and outflow obstruction are the most severe complications of cardiac tumors. What is new: • The rhabdomyoma, fibroma, and myxoma are the most common types of primary benign cardiac tumors. • If severe symptoms are not present and the hemodynamics are unaffected, most of the patients can survive in the long term despite the tumors.

[ESPED-Survey: TSC-disease in children and adolescents: preliminary results from a German epidemiological survey]. / ESPED-Erhebung: TSC-Erkrankung bei Kindern und Jugendlichen: eine einjährige Interim-Analyse.

BACKGROUND: Tuberous sclerosis complex (TSC) disease is a rare genetic, multi-organ disorder characterized by the occurrence of multiple hamartoma. METHODS: In cooperation with ESPED, Germany, a prospective, epidemiological study was performed to assess the incidence of newly diagnosed TSC disease in patients ≤18 years in Germany. Moreover, the following parameters were assessed: 1. Age distribution at initial diagnosis; 2. Percentage of patients with in utero diagnosis of TSC; 3. Detailed description of pathological clinical findings; 4. Results from genetic testing. RESULTS: In this one-year interim analysis, 84 electronic questionnaires were received, 17 of which did not contain complete sets of data and were not included in data analysis. Twenty-three of 67 questionnaires did not report TSC patients and 3 reports contained redundant data sets and were excluded. In total, 41 reports were included into data analysis (female: 23; male: 18); median age at first diagnosis was 6 months (range: 0-151 months). The three most common symptoms were: central nervous affection: 31/41 patients ((75.6 %); 29/31 with seizures); rhabdomyoma: in 20/41 (48.8 %); cutaneous affection: hypomelanotic maculae ("white spots"): 20/41 (48.8 %). The three following organ manifestations were seen most often in a comprehensive diagnostic work-up: rhabdomyoma: 23/41 ((56.1 %); cortical dysplasia: 22/41 (53.7 %); "white spots"): 20/41 (48.8 %). In 11/41 patients, cardiac rhabdomyoma were detected by ultrasonography prenatally. In 6 patients, a TSC-2 mutation was found while in 4 patients a TSC-1 mutation was noted; in 1 patient, genetic testing was negative. CONCLUSIONS: Based on our preliminary findings, the annual incidence rate for TSC disease is estimated at approximately 1:12,300 live births, but this is a very rough approximation.

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

PURPOSE: The aim of this study was to evaluate the clinical and imaging features of patients with cardiac rhabdomyomas associated with tuberous sclerosis complex. PATIENTS AND METHODS: The clinical and imaging characteristics of seven patients with cardiac rhabdomyomas associated with tuberous sclerosis complex between June 2008 and January 2013 were reviewed. The data collected included patient characteristics associated with tuberous sclerosis complex, clinical presentation at diagnosis of cardiac rhabdomyoma, and findings from electrocardiography, echocardiography, magnetic resonance imaging (MRI), and the follow-up period. RESULTS: The age of the patients with tuberous sclerosis complex at diagnosis ranged from 3 months to 5 years with a mean age of 6 months. All patients underwent echocardiography, electrocardiography, and brain MRI and three patients also underwent cardiac MRI. Clinical presentation was epilepsy in all cases, multiple hypomelanotic macules in two patients, cardiac murmur in one patient, arrhythmia in three cases, and dyspnea in one case. Of the patients, six had multiple tumors and a total of 27 tumors were identified by echocardiography in seven patients, including eight in the left ventricle, 18 in the right ventricle, and one in the left atrium. Brain MRI revealed cortical tubers, subcortical tubers, and subependymal nodules in all cases but no subependymal giant cell astrocytoma. The median follow-up period was 2 years (range, 3 months to 4 years). One patient underwent surgical resection of the cardiac tumor because of severe obstruction of the left atrium and hemodynamic compromise. Spontaneous regression occurred in two cases during the follow-up period. CONCLUSION: Cardiac rhabdomyomas are strongly associated with tuberous sclerosis complex and these patients exhibit a variety of clinical presentations. Sometimes these tumors can cause death and some patients may need immediate intervention in the early postnatal period or at a later point in life.

Cardiac tumours in infancy.

Cardiac tumours in infancy are rare and are mostly benign with rhabdomyomas, fibromas and teratomas accounting for the majority. The presentation depends on size and location of the mass as they tend to cause cavity obstruction or arrhythmias. Most rhabdomyomas tend to regress spontaneously but fibromas and teratomas generally require surgical intervention for severe haemodynamic or arrhythmic complications. Other relatively rare cardiac tumours too are discussed along with an Indian perspective.

Asymptomatic fatty changes in the myocardium of a patient with tuberous sclerosis.

Rhabdomyomas are the most common primary cardiac tumors in childhood. They usually occur on ventricular and septal walls. In approximately half of the cases, rhabdomyoma is associated with tuberous sclerosis. Most rhabdomyomas regress during the first years of life. We present MRI findings of fatty replacement of the myocardium which was probably after spontaneous regression of solid mass (rhabdomyoma) in a 16-year-old boy with tuberous sclerosis.

Tumores cardiacos fetales: diagnóstico ecográfico, evolución y tratamiento / Fetal cardiac tumors: diagnosis, clinical course and management

Objetivos: Analizar el diagnóstico ecográfico, la evolución y el tratamiento de los tumores cardiacos fetales diagnosticados en el Hospital La Paz de Madrid, entre los años 1995 y 2010. Método: Se realizó un estudio retrospectivo descriptivo recogiendo los principales datos ecográficos, de la historia clínica materna, neonatal y pediátrica. Resultados: En el periodo de estudio se diagnosticaron ecográficamente 28 tumores cardiacos fetales, 21 casos fueron catalogados como rabdomiomas. Once de ellos tuvieron una regresión prácticamente completa, con ocho casos diagnosticados hasta el momento de esclerosis tuberosa. Hubo 2 muertes intraútero, 1 interrupción legal del embarazo y 4 diagnósticos ecográficos de rabdomiomas, no se confirmaron al nacimiento. Se diagnosticaron prenatalmente dos fibromas; de ellos una gestante optó por la interrupción legal del embarazo y en el otro caso se produjo la muerte neonatal. Dos neonatos fueron sometidos a cirugía con una resección completa del tumor, con resultado anatomopatológico de heman-gioma capilar en uno y teratoma en el otro. En un caso se realizó una biopsia que confirmó la presencia de un hemangiopericitoma auricular que se redujo posteriormente con quimioterapia. Conclusiones: Los tumores cardiacos son una patología poco frecuente. La mayor parte de ellos son rabdomiomas, cuya sin-tomatología y evolución depende de su localización. Estos suelen regresar espontáneamente, pero pueden asociarse al diagnóstico de esclerosis tuberosa, lo que empeora su pronóstico.

Aims: To analize the diagnosis, clinical course and management of fetal cardiac tumors diagnosed at La Paz Hospital (Madrid) between 1995 and 2010. Methods: We performed a retrospective descriptive study collecting the main ultrasound dates of the maternal, newborn and pediatric history. Results: During the study period, 28 fetal cardiac tumors were dignosed. Rhabdomyomas were diagnosed in 21 fetuses; 11 rhabdom-yomas returned almost completely. Eight of them were diagnosed of tuberous sclerosis up to the moment. Other two cases died in utero. One pregnant decided to be practised a miscarriage and four rhabdomyomas which were diagnosed by ultrasound, were not found in the newborns. Two fibroms were diagnosed by ultrasound; one of the pregnant woman decided to be practised a miscarriage and the other fetus died when he was born. Two newborns were operated, with the pathological anatomy result of a hemangioma and a teratoma. A biopsy was made that confirmed the presence of an atrial hemangiopericitoma which was treated by quimiotherapy. Conclusion: Fetal cardiac tumors are a rare disease. Most of them are rhabdomyomas which syntomatology and clinical course depend on its location. They usually regret spontaneously, but they can be associated with tuberous sclerosis, and this aggravates their prognosis.

Fetal cardiac tumors: a single-center experience of 40 cases.

OBJECTIVE: To determine the natural history and outcome of fetal cardiac tumors. METHODS: This was a retrospective cohort study of all prenatally detected cases of cardiac tumors at a tertiary cardiac care center. RESULTS: Forty fetuses were identified to have one or several cardiac tumors in association with fetal hydrops (18%), ventricular obstruction (30%) and/or arrhythmia (13%). Of 33 cases with rhabdomyoma, three patients elected to terminate the pregnancy, four offspring died at birth and 26 (79%) survived. On follow-up, 95% of all live-born cases with rhabdomyomas were free of cardiac symptoms but 88% had tuberous sclerosis. All three fetuses with teratoma presented with hydrops and none of them survived. In contrast, all three fetuses with cardiac fibroma are alive and have a biventricular physiology. One fetus with a large atrial hemangioendothelioma died in early infancy. Fetal or neonatal death was associated with an earlier cardiac anomaly diagnosis, earlier delivery, larger tumor size and fetal hydrops at presentation. CONCLUSIONS: The outcome of fetal cardiac tumors was predicted by the etiology and size of the cardiac mass and the presence of hydrops. Although most cardiac rhabdomyomas have a relatively benign perinatal course, the long-term prognosis is determined by the neurological manifestations associated with tuberous sclerosis.

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.

Prenatal molecular diagnosis of tuberous sclerosis complex.

OBJECTIVE: The objective of the study was to report experience with prenatal molecular diagnosis of tuberous sclerosis complex (TSC). STUDY DESIGN: Sequential deoxyribonucleic acid (DNA) studies were performed on amniotic fluid cells and chorionic villi from 50 pregnant women at risk for having a child with TSC. Mutations were determined by gene sequencing and deletion/duplication analysis of the 2 TSC genes. RESULTS: DNA analysis was successful in 48 of 50 tested fetuses. Mutations were precisely identified in a family member (24) (TSC1 [5]; TSC2 [19]) and/or fetus (11) (TSC1 [3]; TSC2 [8]). Novel mutations were found in 19 individual families, and a probable polymorphism was noted in 4. Second-trimester ultrasound detected 18 fetuses with cardiac rhabdomyomas. There was insufficient DNA in 1, whereas 8 of 17 (47%) had a mutation, 6 (75%) being in TSC2. In 4 of 18 cases, a mutation was detected in the fetus for the first time despite a parent known to have TSC. CONCLUSION: The value and utility of prenatal diagnosis of TSC by DNA analysis was demonstrated by the results in this series of 50 pregnancies in women at risk of having affected offspring. A family history of TSC or detection of fetal cardiac rhabdomyoma should prompt genetic evaluation and counseling of parents and the option of prenatal diagnosis.

[Primary cardiac tumours in infancy]. / Tumores cardíacos primarios en la infancia.

INTRODUCTION: Primary cardiac tumours are very rare in the paediatric age, their incidence varies from 0.0017 % to 0.28 %. More than 90 % are benign in nature. The most common variety is the rhabdomyoma, present in over 60 % of cases with tuberous sclerosis. MATERIAL AND METHODS: We performed a retrospective analysis of medical records with a diagnosis of primary cardiac tumor between March 1977 and March 2007, finding a total of 27 patients. RESULTS: The age of initial diagnosis is more prevalent in the neonatal period, beginning with the discovery of a heart murmur (11 cases). There was no difference in gender distribution. In 14 patients were found cardiomegaly on chest radiograph. According to the echocardiography characteristics there were diagnosed 20 rhabdomyomas, 2 fibromas, 2 pericardial teratomas and 3 non classifiable tumours. Most were located in the left ventricle. Echocardiography, cardiac catheterization was also performed in 3 cases and angioresonance in 5 cases. During their evolution, episodes of arrhythmias were observed in 11 patients, 5 patients required some sort of surgical procedure, which confirmed the histopathology diagnosis. In 3 patients the initial cause of death was cardiological. The 75 % of cases with rhabdomyomas presented or developed tuberous sclerosis. In most of the rhabdomyomas (13 cases), there was a spontaneous regression. CONCLUSIONS: Firstly, there is shown to be a low prevalence of this disorder in children. Rhabdomyoma is the most common primary cardiac tumour in our study and it was associated in 75 % of cases with tuberous sclerosis. The diagnosis is more common in the early neonatal period after auscultation of a cardiac murmur and echocardiography, the diagnostic technique of choice, other imaging techniques, such as angioMRI not being of much for diagnosis in children. The emergence of foetal echocardiography allows early detection. The course is benign in most tumours, rhabdomyomas tending to regress spontaneously. It must be monitored as the occurrence of arrhythmias during its evolution will require medical treatment. Surgery is needed in cases with severe symptoms, due to obstruction in the ventricular output tracts. One option is the surgical cardiac transplant in non-resectable life-threatening tumours.

Epidemiological and pathological characteristics of cardiac tumors: a clinical study of 242 cases.

The purpose of this study was to review the current clinical experience and pathological characteristics of cardiac tumors. We retrospectively reviewed 33,108 consecutive cases of cardiac operations performed at our institution from October 1996 to March 2005. There were 242 cases confirmed histologically as cardiac tumors. Among them, 234 patients were diagnosed with primary heart tumors, revealing a prevalence of 0.71% among the corresponding period cardiac operations. Of primary cardiac tumors, the incidence of benign neoplasm was much higher than malignant masses (90.6% vs. 9.4%, P<0.01). The most common benign cardiac tumor was myxoma (86.8%). Mesenchymoma and angiosarcoma were the most common primary malignant cardiac tumors. The prevalence rates of cardiac tumors were quite different among age groups. Rhabdomyoma and fibroma are prone to children. The number of female patients with myxoma was higher than that in male (P<0.01). Myxomas have a special predilection for the left atrium (93.5%). Benign non-myxoma tumors are more likely to occur in the ventricular (64.3%). The primary malignant tumors have a tendency to be of multi-center origination (23%). All the secondary cardiac tumors were located in the right side of the heart. This study, using a relatively large sample, reveals the clinical incidences and pathological characteristics of various cardiac tumors in the Chinese population.

Cardiac tumours in children.

Cardiac tumours are benign or malignant neoplasms arising primarily in the inner lining, muscle layer, or the surrounding pericardium of the heart. They can be primary or metastatic. Primary cardiac tumours are rare in paediatric practice with a prevalence of 0.0017 to 0.28 in autopsy series. In contrast, the incidence of cardiac tumours during foetal life has been reported to be approximately 0.14%. The vast majority of primary cardiac tumours in children are benign, whilst approximately 10% are malignant. Secondary malignant tumours are 10-20 times more prevalent than primary malignant tumours. Rhabdomyoma is the most common cardiac tumour during foetal life and childhood. It accounts for more than 60% of all primary cardiac tumours. The frequency and type of cardiac tumours in adults differ from those in children with 75% being benign and 25% being malignant. Myxomas are the most common primary tumours in adults constituting 40% of benign tumours. Sarcomas make up 75% of malignant cardiac masses. Echocardiography, Computing Tomography (CT) and Magnetic Resonance Imaging (MRI) of the heart are the main non-invasive diagnostic tools. Cardiac catheterisation is seldom necessary. Tumour biopsy with histological assessment remains the gold standard for confirmation of the diagnosis. Surgical resection of primary cardiac tumours should be considered to relieve symptoms and mechanical obstruction to blood flow. The outcome of surgical resection in symptomatic, non-myxomatous benign cardiac tumours is favourable. Patients with primary cardiac malignancies may benefit from palliative surgery but this approach should not be recommended for patients with metastatic cardiac tumours. Surgery, chemotherapy and radiotherapy may prolong survival. The prognosis for malignant primary cardiac tumours is generally extremely poor.

CT and MRI of pericardial and cardiac neoplastic disease.

This article reviews the pathological classification of cardiac and pericardial neoplasms, the incidence of the various tumor types, and the role of CT and MRI, including their major differences and clinical impact on patient management.

Primary tumors of the heart: experience at the University Hospital of the West Indies.

BACKGROUND: An analysis of primary cardiac tumors in the English-speaking Caribbean has never been previously conducted. This paper is an attempt to fill this void. METHODS: A retrospective review of autopsy and surgical pathology records of the Department of Pathology at the University Hospital of the West Indies was carried out in search of all primary cardiac tumors. RESULTS: Altogether, 15 patients with primary cardiac tumors were identified. Twelve patients had myxomas, 2 of which were newborn infants. There were 2 cases of fibroma and 1 of rhabdomyoma, also in children. No malignant tumors were identified. Of the 10 adult patients all of whom had myxoma, there were 5 men and 5 women whose ages ranged from 33 to 83 years with a mean of 52 years. Echocardiography was used in making the diagnosis of cardiac tumor in all but one of these cases. All adult patients were symptomatic, with shortness of breath, often accompanied by congestive cardiac failure, being the most common symptom. One patient presented with embolic phenomena. CONCLUSION: This analysis of the clinicopathologic features of primary cardiac neoplasms represents the first of its kind in the English-speaking Caribbean. While the total number of cases was small, there appears to be a disproportionate number of pediatric tumors representing a third of the total. Furthermore, the distribution of tumor types within the pediatric population was dissimilar to that usually seen with only one rhabdomyoma.

[Cardiac tumors in children and adults: A Multicentric retrospective study]. / Comportamiento clínico de los tumores cardíacos desde el feto hasta el adulto: serie multicéntrica de 38 pacientes.

BACKGROUND: Cardiac tumors are very uncommon at all ages. There are important clinical differences between children and adults in the behavior of these tumors. AIM: To compare the behavior of primary and secondary cardiac tumors, from fetal age to adults. PATIENTS AND METHOD: Multicentric retrospective analysis of 38 children and adults with cardiac tumors, evaluated with echocardiography between January 1995 and August 2001. Medical records, echocardiographic and radiological examinations, surgical protocols and pathologic examinations were reviewed. Follow-up was obtained through data on medical records or calling patients by telephone. RESULTS: Tumors were diagnosed in 38 patients (13 children and 25 adults), from a total of 31.800 echocardiograms. In children the diagnosis was made by fetal, transthoracic or transesophageal echocardiography in 23.6% and 8% of cases, respectively. Eighty five percent were primary (10 benign and 1 malignant) and 15%, secondary tumors. Fifty four percent were rhabdomyomas and 75% regressed spontaneously. Seventy seven percent were symptomatic and 31% were treated with surgery. During a follow up of 44+/-35 months, 31% of patients died. In adults, 76% of tumors were diagnosed by transthoracic and 20% by transesophageal echocardiography. Seventy six percent were primary (18 benign and 1 malignant) and 24% secondary tumors. Fifty six percent were myxomas. Ninety two percent were symptomatic and 84% were treated surgically. Twenty percent of patients died in the early postoperative period. No adult patients had a follow-up. CONCLUSIONS: Rhabdomyomas were solely found in children. In adults, myxomas are the predominant cardiac tumors. Primary and metastasic malignant tumors are observed both in children and in adults.

Comportamiento clínico de los tumores cardíacos desde el feto hasta el adulto: serie multicéntrica de 38 pacientes / Cardiac tumors in children and adults: A retrospective study

Background: Cardiac tumors are very uncommon at all ages. There are important clinical differences between children and adults in the behavior of these tumors. Aim: To compare the behavior of primary and secondary cardiac tumors, from fetal age to adults. Patients and Method: Multicentric retrospective analysis of 38 children and adults with cardiac tumors, evaluated with echocardiography between January 1995 and August 2001. Medical records, echocardiographic and radiological examinations, surgical protocols and pathologic examinations were reviewed. Follow-up was obtained through data on medical records or calling patients by telephone. Results: Tumors were diagnosed in 38 patients (13 children and 25 adults), from a total of 31.800 echocardiograms. In children the diagnosis was made by fetal, transthoracic or transesophageal echocardiography in 23.6 percent and 8 percent of cases, respectively. Eighty five percent were primary (10 benign and 1 malignant) and 15 percent, secondary tumors. Fifty four percent were rhabdomyomas and 75 percent regressed spontaneously. Seventy seven percent were symptomatic and 31 percent were treated with surgery. During a follow up of 44±35 months, 31 percent of patients died. In adults, 76 percent of tumors were diagnosed by transthoracic and 20 percent by transesophageal echocardiography. Seventy six percent were primary (18 benign and 1 malignant) and 24 percent secondary tumors. Fifty six percent were myxomas. Ninety two percent were symptomatic and 84 percent were treated surgically. Twenty percent of patients died in the early postoperative period. No adult patients had a follow-up. Conclusions: Rhabdomyomas were solely found in children. In adults, myxomas are the predominat cardiac tumors. Primary and metastasic malignant tumors are observed both in children and in adults.

Fetal rhabdomyoma: prenatal diagnosis, clinical outcome, and incidence of associated tuberous sclerosis complex.

OBJECTIVES: We reviewed our institution's experience with fetal cardiac rhabdomyoma to document the clinical outcome and incidence of associated tuberous sclerosis complex (TSC) and compared our findings with those of patients diagnosed with cardiac rhabdomyoma after birth. STUDY DESIGN: We reviewed the medical records of all cases diagnosed prenatally and postnatally with cardiac rhabdomyoma between January 1990 and June 2002. RESULTS: Twenty fetuses with cardiac rhabdomyoma were diagnosed at 28.4+/-6.0 weeks' gestational age. Of 19 continued pregnancies, there was one spontaneous intrauterine death, and 18 were delivered at term. Although none had prenatal hemodynamic complications, after birth seven had cardiac symptoms requiring medical (n=4) or surgical intervention (n=3). On follow-up, 15 of 19 with available outcome had TSC (79%), including six with neurodevelopmental disease. Over the same period, 26 patients were diagnosed with cardiac rhabdomyoma postnatally. Most (77%) were referred for cardiac assessment after findings suggesting TSC. On follow-up, TSC was confirmed in 25 (96%), including 22 with neurodevelopmental disease. The incidence of cardiac symptoms and TSC was not statistically different between the prenatal and postnatal diagnosis groups. CONCLUSIONS: Cardiac rhabdomyomas are benign from the cardiovascular standpoint in most affected fetuses. As observed in postnatally diagnosed cardiac rhabdomyoma, TSC is diagnosed in most cases of fetal cardiac rhabdomyoma.