Tuberous sclerosis is a genetic multisystem disorder characterised by hamartomas in several organs. Cardiac rhabdomyomas are the main features of the disease but lipomas can very rarely be associated. Herein, we present a very rare association of tuberous sclerosis and cardiac lipoma detected by echocardiography and diagnosed as a lipoma via MRI and fat suppression technic, aim to report this very rare association, and emphasise usefulness of MRI in cardiac mass lesions.

Tuberous sclerosis complex is a rare multisystem genetic disorder characterised by the growth of numerous tumour-like malformations in many parts of the body including skin, kidneys, brain, lung, eyes, liver, and heart. Mutations in the TSC1 or TSC2 genes have been reported to cause disruption in the TSC1–TSC2 intracellular protein complex, causing over-activation of the mammalian target of rapamycin protein complex. In this study, we present a 3-month-old male infant diagnosed with tuberous sclerosis, bilateral neurosensorial hearing loss, Wolff–Parkinson–White syndrome on electrocardiography, multiple cardiac rhabdomyomas with severe stenosis in the left ventricular outflow tract, who responded well to the Everolimus therapy.

Mammalian target of rapamycin inhibitors was found recently to be an effective treatment for manifestations of Tuberous sclerosis complex, including cardiac rhabdomyomas. Most cases with Cardiac rhabdomyoma treated with mammalian target of rapamycin inhibitors to date were diagnosed with Tuberous sclerosis. We report a case of cardiac rhabdomyoma and severe right ventricular outflow obstruction in a baby with negative genetics for Tuberous sclerosis that responded rapidly to Sirolimus.

Cardiac rhabdomyomas represent the most common primary paediatric cardiac tumour and typically regresses over time in the majority of patients. Among those who are symptomatic, surgical resection or catheterisation procedures have traditionally proven effective. More recently, those invasive or challenging tumours have been successfully treated with mammalian target of rapamycin inhibitors, typically everolimus and sirolimus. This review outlines the current medical literature of the state-of-the-art medical treatment of these tumours. We specifically focus on dosing regimens, duration of therapy, and side-effect profiles of mammalian target of rapamycin inhibitors among this population. Although the majority of cases responded to mammalian target of rapamycin inhibition, standardised guidelines for dosing and duration of treatment remain to be defined.

Cardiac tumours in newborns are often asymptomatic and can be sporadically detected on routine screening unless they result in intractable arrhythmias or haemodynamically significant obstructions causing heart failure. Their presentation as a cause of congenital cyanosis is never anticipated. We report a rare case of a newborn presenting with congenital cyanosis consequent to suspected cardiac rhabdomyoma causing tricuspid inflow obstruction. Our experience with this patient with two large cardiac masses illustrates the significance of its inclusion in the differential diagnosis of perinatal cyanosis, as early detection and surgical management might be the only lifesaving options, if performed well in time.

Cardiac rhabdomyomas in patients with tuberous sclerosis complex are usually detected antenatally or during infancy, with subsequent stabilisation or spontaneous regression. Development of a new cardiac rhabdomyoma beyond infancy is very rare. We report a male child who needed resection of a large rhabdomyoma in neonatal life, and then developed a new-onset rhabdomyoma at 2 years of age in a different location, needing another resection. Routine surveillance for cardiac rhabdomyomas in asymptomatic patients with tuberous sclerosis is essential.

We report a case of cardiac rhabdomyomas in an infant who presented with right ventricular tachycardia, and a clinical picture of infective endocarditis. Typical features of tuberous sclerosis developed subsequently. To the best of our knowledge, cardiac rhabdomyoma has not been reported previously in association with infective endocarditis.

The neuro-cutaneous syndrome tuberous sclerosis is commonly associated with rhabdomyomas in various organs including the heart. We are reporting a rare case of a 7-month old male child with congenitally corrected transposition of the great arteries associated with tuberous sclerosis and cardiac rhabdomyomas. To our knowledge, this rare association has not been reported so far.

Cardiac rhabdomyomas are benign cardiac tumours with few cardiac complications, but with a known association to tuberous sclerosis that affects the neurologic outcome of the patients. We have analysed the long-term cardiac and neurological outcomes of patients with cardiac rhabdomyomas in order to allow comprehensive prenatal counselling, basing our findings on the records of all patients seen prenatally and postnatally with an echocardiographic diagnosis of cardiac rhabdomyoma encountered from August, 1982, to September, 2007. We analysed factors such as the number and the location of the tumours to establish their association with a diagnosis of tuberous sclerosis, predicting the cardiac and neurologic outcomes for the patients.

Cardiac complications include arrhythmias, obstruction of the ventricular outflow tracts, and secondary cardiogenic shock. Arrhythmias were encountered most often during the neonatal period, with supraventricular tachycardia being the commonest rhythm disturbance identified. No specific dimension or location of the cardiac rhabdomyomas predicted the disturbances of rhythm.

The importance of the diagnosis of tuberous sclerosis is exemplified by the neurodevelopmental complications, with four-fifths of the patients showing epilepsy, and two-thirds having delayed development. The presence of multiple cardiac tumours suggested a higher risk of being affected by tuberous sclerosis. The tumours generally regress after birth, and cardiac-related problems are rare after the perinatal period. Tuberous sclerosis and the associated neurodevelopmental complications dominate the clinical picture, and should form an important aspect of the prenatal counselling of parents.

Rhabdomyomas are the most common cardiac tumours in children. They sometimes cause significant obstruction of the ventricular out flow tracts. We report a series of 3 neonates diagnosed antenatally with multiple rhabdomyomas, who developed significant obstruction of the ventricular outflow tracts following birth. They underwent surgical resection in the neonatal period with good outcome. Antenatal diagnosis of obstructive cardiac tumours allows for planning for appropriate early intervention.

We reviewed 22 cases of primary pediatric cardiac tumors followed at our institution from January 1981 through November 1997, analyzing them by subtype, age and manner of presentation, location, associated findings, interventions, and clinical course. Rhabdomyomas were the most common (11), followed by intrapericardial teratomas (2), myxomas (1), fibromas (1), hemangiomas (1), mesotheliomas (1), and rhabdomyosarcomas (1), with 4 undetermined tumors. The majority (77%) of tumors were diagnosed before the age of one year, including six prenatally. The most common presentations were murmurs (5), arrhythmias (5), and abnormal screening fetal ultrasound examinations (4). Tumors were located most frequently in the right ventricle (13) and left ventricle (7), with multiple tumors being present in 10 cases. Eight patients (36%) had associated arrhythmias or conduction abnormalities, and of the 11 patients with rhabdomyomas, tuberous sclerosis was diagnosed in 8. Eight patients underwent cardiac catheterization, including two for electrophysiologic study with radiofrequency ablation, and seven patients had complete or partial tumor resection. The follow-up period ranged from 2 months to 15 years, and there were 3 tumor-related deaths. Therefore, despite the benign histology of most primary pediatric cardiac tumors, there may be significant associated morbidity and occasional mortality. As echocardiographic techniques such as fetal ultrasonography have continued to improve, however, these cardiac tumors have increasingly been detected early before significant symptoms develop.

Rhabdomyoma is the most frequent primary cardiac tumor seen during infancy. We report multiple rhabdomyomas diagnosed in twins in the neo natal period. To the best of our knowledge, this is the first instance of this happening.

We studied 52 children in order to assess the prevalence, natural history, and electrophysiologic effects of cardiac rhabdomyoma in tuberous sclerosis. Their ages ranged from one day to 12 years (median age 1.33 year). The tumors in the heart were found in 22 patients through cross-sectional echocardiography. The overall prevalence of cardiac rhabdomyoma was 42%. The prevalence of cardiac tumors in patients first seen in infancy was 77%, and that in patients over one year of age was 31%. Those with cardiac tumors diagnosed in infancy had more tumors per person than did the patients diagnosed after infancy, and the tumors were smaller in the patients diagnosed over one year of age. Follow-up cross-sectional echocardiography showed that almost all tumors showed spontaneous regression. Complete regression occurred more commonly in younger patients, and in those with smaller tumors. About 70% of patients with cardiac tumors had either normal findings or infrequent premature contractions on 24hour Holter monitorings. The rest of the patients with cardiac tumors showed either frequent premature contractions, atrioventricular block, or atrial tachycardia, but antiarrhythmic medication was rarely required. Cross-sectional echocardiography, therefore, seems to be the best diagnostic tool for screening cardiac rhabdomyomas in patients with tuberous sclerosis. The tumors may be managed more conservatively in view of their high rate of spontaneous regression and rather rare association with symptomatic arrhythmias.