Results for “RHABDOMYOMA” — Page 33

OBJECTIVE: Tuberous sclerosis complex is an autosomal dominant disorder in which hamartomas occur in several organs. Cardiac rhabdomyomas, the most common heart tumors of childhood, are well known to be associated with tuberous sclerosis complex. Our aim for this study was to characterize the incidence, progression, and clinical consequences of tuberous sclerosis complex-associated rhabdomyomas in a large cohort of patients with TSC1 and TSC2 genotypes. PATIENTS AND METHODS: Patients (154) with tuberous sclerosis complex were evaluated, including clinical assessment, electrocardiography, and echocardiography. Mutations in TSC1 or TSC2 genes were identified in 127 patients. RESULTS: Cardiac rhabdomyomas were found in 74 (48%) patients. Tumors were most frequent in children younger than 2 years (65%). Tumor regression or disappearance was observed in 37 (68%) of 55 children. However, in 6 (3.9%) of them (aged 10-15 years), cardiac rhabdomyomas were noted to either grow (3 cases) or appear de novo (3 cases), such that the frequency of cardiac rhabdomyomas in adolescents was 6 (54%) of 11. Most (61%) tumors were clinically silent. Clinical manifestations included heart failure (5.4%), arrhythmias (23%), and murmurs (14.9%). One child died as a result of cardiac insufficiency. Cardiac rhabdomyomas were more frequent in the TSC2 (54%) than TSC1 (20%) groups. CONCLUSIONS: Cardiac rhabdomyomas are seen in the majority of young children with tuberous sclerosis complex. Most produce no clinical consequences and will spontaneously regress. However, during puberty, cardiac rhabdomyomas may enlarge or appear de novo; thus, attention should be paid to potential clinical signs and monitoring by echocardiography should be performed. Cardiac rhabdomyomas were observed more often in the TSC2 group.

Adolescent↗

PubMed2003

Role of magnetic resonance imaging for evaluation of tumors in the cardiac region.

The aim of this study was to review the role of MRI in the assessment of heart neoplasm, 25 cases with heart neoplasm (10 myxoma, 6 rhabdomyoma, 5 angiosarcoma, 2 mesothelioma, 1 lymphoma, and 1 fibroma) were examined with MRI and echocardiography. Multislice T1- and T2-weighted spin-echo images and static gradient-echo images were taken in appropriate directions with electrocardiogram gating. Gadolinium enhancement was performed in 21 cases. Transthoracic echocardiography was performed in all cases. Except for the 5 patients with rhabdomyoma, the pathological diagnosis was obtained. MRI proved to be useful for tissue characterization of myxoma, angiosarcoma, mesothelioma, and fibroma in cases with tuberous sclerosis. MRI also proved to be useful for detection of the tumor, depiction of contour, relation with other cardiac structures, in cases with myxoma, angiosarcoma, mesothelioma, lymphoma, and fibroma. In the differential diagnosis, MRI provided important information in cases with myxoma, rhabdomyoma, angiosarcoma, and fibroma. In cases with tumors expanding into the mediastinum, such as mesothelioma and fibroma in this report, MRI was useful in determining the location and border. In cases with tumors adjacent to pericardium, MRI was useful in detecting pericardial invasion. Gadolinium enhancement added useful information in cases with myxoma, rhabdomyoma, angiosarcoma, and mesothelioma. The role of MRI with and without Gd enhancement differs somewhat in individual types of heart neoplasm, and adaptation must be considered in each kind of neoplasm. On the other hand, MRI is an essential examination in all cases with a cardiac mass, which has not been diagnosed, since it may provide useful information for the differential diagnosis.

Adolescent↗

PubMed1994

Cardiac involvement in tuberous sclerosis.

OBJECTIVE: To assess the incidence, importance, and history of cardiac involvement in infants and children with tuberous sclerosis. DESIGN: Prospective study; clinical examination, sector and Doppler echocardiography, standard and ambulatory electrocardiography. SETTING: A tertiary referral centre. PATIENTS: 21 patients with tuberous sclerosis aged 1 day to 16 years (mean 6.3 years); follow up investigations were available in 14 cases (10 retrospective, 4 prospective; mean follow up 4.3 years). RESULTS: Multiple cardiac rhabdomyomas in the right ventricle (11) and left ventricle (14) as well as in the right atrium (1) were present in 14/21 patients. Two of them had obstruction of the left ventricular inflow and outflow tract related to a tumour. In the remaining 7 patients, echocardiography was normal in 4 and equivocal in 3 cases. The standard electrocardiogram (n = 20) showed ventricular hypertrophy (2), ventricular pre-excitation (1), arrhythmias (2), and repolarisation disturbances (4) in 7/13 patients with rhabdomyomas but was normal in all patients with a normal or equivocal echocardiogram. The ambulatory electrocardiogram (n = 19) showed frequent premature atrial (2) and polymorphous ventricular (2) contractions. The polymorphous ventricular contractions coexisted with rhabdomyomas. No arrhythmias that needed medical treatment were found. Follow up investigations showed return to a normal standard electrocardiogram in 3 patients. Definite regression or complete disappearance of the tumour occurred in 6 infants. CONCLUSIONS: Cardiac rhabdomyomas, although often present in these patients with tuberous sclerosis, caused neither major arrhythmias nor haemodynamic obstruction except in the neonatal period. The indication for operation is limited to cases with life threatening obstruction or arrhythmias refractory to medical treatment.

Adolescent↗

PubMed2003

Role of magnetic resonance imaging for evaluation of tumors in the cardiac region.

The aim of this study was to review the role of MRI in the assessment of heart neoplasm, 25 cases with heart neoplasm (10 myxoma, 6 rhabdomyoma, 5 angiosarcoma, 2 mesothelioma, 1 lymphoma, and 1 fibroma) were examined with MRI and echocardiography. Multislice T1- and T2-weighted spin-echo images and static gradient-echo images were taken in appropriate directions with electrocardiogram gating. Gadolinium enhancement was performed in 21 cases. Transthoracic echocardiography was performed in all cases. Except for the 5 patients with rhabdomyoma, the pathological diagnosis was obtained. MRI proved to be useful for tissue characterization of myxoma, angiosarcoma, mesothelioma, and fibroma in cases with tuberous sclerosis. MRI also proved to be useful for detection of the tumor, depiction of contour, relation with other cardiac structures, in cases with myxoma, angiosarcoma, mesothelioma, lymphoma, and fibroma. In the differential diagnosis, MRI provided important information in cases with myxoma, rhabdomyoma, angiosarcoma, and fibroma. In cases with tumors expanding into the mediastinum, such as mesothelioma and fibroma in this report, MRI was useful in determining the location and border. In cases with tumors adjacent to pericardium, MRI was useful in detecting pericardial invasion. Gadolinium enhancement added useful information in cases with myxoma, rhabdomyoma, angiosarcoma, and mesothelioma. The role of MRI with and without Gd enhancement differs somewhat in individual types of heart neoplasm, and adaptation must be considered in each kind of neoplasm. On the other hand, MRI is an essential examination in all cases with a cardiac mass, which has not been diagnosed, since it may provide useful information for the differential diagnosis.

Diagnosis, Differential↗

PubMedDate not supplied

CT and MR imaging findings of benign cardiac tumors.

This imaging review describes the appearance of benign cardiac tumors on CT and MRI. Although rare, benign tumors outnumber their primary malignant counterparts three to one. Since mortality varies directly with invasion, identifying the neoplasm at an early stage helps focus treatment, especially in benign cases, which generally respond well to surgical resection. In adults and children, myxomas and rhabdomyomas, respectively, represent the most common benign tumors, which can be grouped into tissue-specific subtypes, such as rhabdomyomas, fibromas, lipomas, teratomas, etc. Besides their variable prevalence in particular age groups, these tumors also differ with regard to their gender predilection, location, and number. For example, myxomas appear predominantly in women and generally as a solitary mass in the left or right atrium, whereas rhabdomyomas present equally in boys and girls and chiefly as multiple masses in the ventricles. Despite their differences, however, both types share an association with heritable syndromes like the Carney complex for myxomas and tuberous sclerosis for rhabdomyomas. As with all cardiac tumors, echocardiographic findings usually suggest the initial diagnosis but cross-sectional imaging with CT and MRI can help resolve diagnostically challenging cases. For example, with its direct multiplanar capability, excellent contrast resolution, and large field of view, MRI permits a detailed examination of the entire mediastinum, helping to rule out an equivocal mass on echocardiography. Through dynamic techniques, MRI, in addition to morphologic characterization, can depict the pathophysiological effects of these tumors, for instance, with regard to myocardial contraction, valvular function, or blood flow.

Heart Neoplasms↗

PubMed1989

Intracranial trigeminal nerve rhabdomyoma/choristoma in a child: a case report and discussion of possible histogenesis.

Rhabdomyomas are rare tumors that usually arise within the heart, orocervical, or vulvovaginal regions. The cardiac tumors have a characteristic immature morphology, occur often in association with tuberous sclerosis, and are regarded as hamartomas rather than true neoplasms. The histogenesis of the extracardiac tumors and their true neoplastic nature are matters of controversy. We report the first case of a rhabdomyoma located inside the cranium. The intimate association with the mandibular division of the trigeminal nerve, the normal embryogenesis of the craniofacial muscles, and animal homograft and xenograft experiments provide a framework for considering this tumor, and possibly other rhabdomyomas, as a choristoma/hamartoma rather than a true neoplasm.

Child, Preschool↗

PubMed1995

Diagnosis and management of fetal cardiac tumors: a multicenter experience and review of published reports.

OBJECTIVES: We sought to determine the prevalence and natural history of cardiac tumors in patients referred for fetal echocardiography. BACKGROUND: Cardiac tumors are rare; the prevalence, reported from autopsy studies of patients of all ages, varies from 0.0017% to 0.28%. Despite many case reports, the prevalence and natural history of fetal cardiac tumors are unclear. METHODS: Fourteen thousand fetal echocardiograms recorded over an 8-year period in seven centers were available for retrospective review. Medical records and echocardiograms were studied to determine the reason for referral, family history of tuberous sclerosis, prenatal and postnatal course and tumor description and type. RESULTS: Cardiac tumors were present in 19 pregnancies (0.14%). Gestational age at diagnosis ranged from 21 to 38 weeks. The most common indication for referral was a mass on an obstetric ultrasound study. The tumors were singular in 10 patients and multiple in 9. Tumor size ranged from 0.4 x 0.4 to 3.5 x 4 cm, and the majority of tumors were not hemodynamically significant. There were 17 patients with rhabdomyomas, 1 with a fibroma and 1 with an atrial hemangioma. Tuberous sclerosis complex was diagnosed in 10 patients. Partial or complete tumor regression was seen in eight patients; tumors were unchanged in five; and three required operation. CONCLUSIONS: Fetal cardiac tumors, a rare condition, are often benign. The majority of tumors are rhabdomyomas, but not all fetuses with rhabdomyoma have tuberous sclerosis.

Female↗