rhabdomyoma/seizures

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Fetal cardiac rhabdomyomas treated with maternal sirolimus.

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To review the pathophysiology of rhabdomyomas and the emerging option of prenatal treatment of fetal cardiac rhabdomyomas.We present a case of fetal rhabdomyomas causing significant hemodynamic compromise that received in-utero treatment of maternal

Carbamazepine-induced heart block in a child with tuberous sclerosis and cardiac rhabdomyoma: implications for evaluation and follow-up.

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We describe a young child with tuberous sclerosis and cardiac rhabdomyoma who developed reversible heart block after being placed on carbamazepine treatment for seizures. Patients of any age with known or suspected intrinsic cardiac disease should be monitored for conduction disturbance if they are

[Tuberous sclerosis associated with rhabdomyoma in the left ventricular outlet tract].

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We report a 2-month old newborn with a family history of adenoma sebaceum, achromic spots and renal lithiasis. Echocardiography-magnetic resonance imaging showed a solitary pediculated rhabdomyoma in the left ventricular outlet tract causing a severe systolic aortic valve obstruction. Surgical

Tuberous sclerosis--an unusual cause of seizures in an 18 year old.

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An 18 year old man presenting with seizures was found to have hypomelanotic macules and a cardiac rhabdomyoma. These features suggested a diagnosis of tuberous sclerosis (TS) but there were no other clinical signs, no family history and cranial imaging failed to reveal the characteristic

[Partial seizures in a newborn with tuberous sclerosis].

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Tuberous sclerosis is characterized by the potential for hamartomatous growth in multiple organs. Common manifestations are hypomelanotic spots, facial angiofibromas, subependymal hamartomas, cortical tubers, cardiac rhabdomyomas, retinal hamartomas, and so on. Seizures and mental retardation are

Rapamycin therapy for neonatal tuberous sclerosis complex with cardiac rhabdomyomas: A case report and review.

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Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disease that varies greatly in its expression. The current study reports a novel case of TSC caused by a TSC2 mutation (TSC2c.1642_1643insA or TSC2p.K549fsX589), in which multiple cardiac rhabdomyomas were detected by fetal

Neonatal heart failure revealing a cardiac rhabdomyoma with tuberous sclerosis.

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BACKGROUND Cardiac rhabdomyoma is the most common cardiac tumour in childhood and is often associated to tuberous sclerosis (TS). However, a neonatal cardiac failure was uncommonly reported as the first manifestation of tuberous sclerosis. OBJECTIVE We report a case of a cardiac tumour revealed by a

[Neonatal cardiac rhabdomyoma: case report and clinico-epidemiologic considerations].

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Primary cardiac tumors are very infrequent at all ages; the most frequent in the pediatric age is rhabdomyoma. This tumor is associated with tuberous sclerosis in 37 to 80%, with a frequency of 1 for each 40,000 live newborns. This case is about a newborn, who in the immediate postnatal period

Everolimus for cardiac rhabdomyomas in children with tuberous sclerosis. The ORACLE study protocol (everOlimus for caRdiac rhAbdomyomas in tuberous sCLErosis): a randomised, multicentre, placebo-controlled, double-blind phase II trial.

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Tuberous sclerosis complex is a rare genetic disorder leading to the growth of hamartomas in multiple organs, including cardiac rhabdomyomas. Children with symptomatic cardiac rhabdomyoma require frequent admissions to intensive care units, have major complications, namely,

Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases.

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BACKGROUND Rhabdomyomas are the most common type of cardiac tumors in children. Anatomically, they can be considered as hamartomas. They are usually randomly diagnosed antenatally or postnatally sometimes presenting in the neonatal period with haemodynamic compromise or severe arrhythmias although

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

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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

Rapid enlargement of cardiac rhabdomyoma during corticotropin therapy for infantile spasms.

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OBJECTIVE To investigate the influence of corticotropin therapy on cardiac rhabdomyoma. METHODS Analysis of data from echocardiography performed on in-patients. METHODS Six patients with rhabdomyoma who were admitted to the authors' medical centre with either convulsion (five cases) or prematurity

Clinical outcome of prenatally suspected cardiac rhabdomyomas of the fetus.

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Background The main objective of this retrospective analysis in a large tertiary center was the clinical outcome of prenatally diagnosed cardiac rhabdomyomas as well as the identification of factors influencing fetal prognosis. Methods A total of 45 cases of fetuses with prenatally suspected

Tuberous sclerosis complex and neonatal seizures.

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Tuberous sclerosis complex is a multisystemic neurocutaneous disorder, manifesting variably during infancy and childhood that remains poorly described in neonates. When described in this population, tuberous sclerosis complex is most commonly associated with cardiac rhabdomyomas and brain tumors,

Prenatal diagnosis of giant cardiac rhabdomyoma in tuberous sclerosis complex: a new therapeutic option with everolimus.

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Tuberous sclerosis complex (TSC) is a genetic disorder characterized by abnormal cell proliferation and tumor growth in a number of organ systems, primarily the brain, kidneys, eyes and heart. Clinical symptoms vary according to the location of the tumor. The most common disorders are seizures,

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