Cardiac Rhabdomyomas in Tuberous Sclerosis Complex
نویسندگان
چکیده
منابع مشابه
Multiple cardiac rhabdomyomas: tuberous sclerosis or not?
Accepted for publication 24 January 1997 A 27 year old woman with nine previous pregnancies was referred for a fetal scan. Family history revealed that her previous child and the father both had tuberous sclerosis. Tumours were detected antenatally; at 20 weeks' gestation a small mass was visible in the right ventricle and by 36 weeks' the right ventricular tumour had enlarged considerably, the...
متن کاملRhabdomyomas and Tuberous sclerosis complex: our experience in 33 cases
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 most neonatal cases remain asymptomatic. Typically rhabdomyomas are multiple lesions and usually r...
متن کاملCardiac rhabdomyomas and their association with tuberous sclerosis.
A search for children presenting with signs or symptoms of cardiac rhabdomyomas was made through members of the paediatric section of the British Cardiac Society in order to establish their birth incidence, presenting features, clinical course, and the frequency of a concurrent diagnosis of tuberous sclerosis. Fifteen children were identified and 12 had tuberous sclerosis (80%). Heart failure w...
متن کاملRegression of symptomatic multiple cardiac rhabdomyomas associated with tuberous sclerosis complex in a newborn receiving everolimus.
UNLABELLED Cardiac rhabdomyoma is the most common primary cardiac tumor, is considered to be a hamartoma of developing cardiac myocytes. Cardiac rhabdomyoma is associated with tuberous sclerosis complex (TSC) in 50-86% of cases. Mutations in TSC-1/TSC-2 genes result in increased mammalian target of rapamycin (mTOR) pathway activation responsible for the hamartomatous lesions of tuberous scleros...
متن کاملRapamycin therapy for neonatal tuberous sclerosis complex with cardiac rhabdomyomas: A case report and review
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 echocardiography in week 31 of pregnancy. The infant was delivered successfully; however, seizures began 16...
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ژورنال
عنوان ژورنال: The Journal of Pediatrics
سال: 2018
ISSN: 0022-3476
DOI: 10.1016/j.jpeds.2017.09.050