title: Rhabdomyomas and tuberous sclerosis complex: our experience in 33 cases.
abstract: 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 regress spontaneously but are often associated with tuberous sclerosis complex (TSC), an autosomal dominant multisystem disorder caused by mutations in either of the two genes, TSC1 or TSC2. Diagnosis of tuberous sclerosis is usually made on clinical grounds and eventually confirmed by a genetic test by searching for TSC genes mutations.
  
  
  METHODS
  We report our experience on 33 cases affected with rhabdomyomas and diagnosed from January 1989 to December 2012, focusing on the cardiac outcome and on association with the signs of tuberous sclerosis complex. We performed echocardiography using initially a Philips Sonos 2500 with a 7,5/5 probe and in the last 4 years a Philips IE33 with a S12-4 probe. We investigated the family history, brain, skin, kidney and retinal lesions, development of seizures, and neuropsychiatric disorders.
  
  
  RESULTS
  At diagnosis we detected 205 masses, mostly localized in interventricular septum, right ventricle and left ventricle. Only in 4 babies (12%) the presence of a mass caused a significant obstruction. A baby, with an enormous septal rhabdomyoma associated to multiple rhabdomyomas in both right and left ventricular walls died just after birth due to severe heart failure. During follow-up we observed a reduction of rhabdomyomas in terms of both number and size in all 32 surviving patients except in one child. Eight patients (24,2%) had an arrhythmia and in 2 of these cases rhabdomyomas led to Wolf-Parkinson-White Syndrome. For all patients the arrhythmia spontaneously totally disappeared or was reduced gradually. With regarding to association with tuberous sclerosis, we diagnosed tuberous sclerosis clinically in 31 babies (93,9%).
  
  
  CONCLUSIONS
  Rhabdobyomas are tumors with favorable prognosis because they frequently do not cause symptoms and they often regress in numbers and size. Nevertheless, due to frequent association with tuberous sclerosis complex and the resulting neurological impairment, the prognosis can result unfavorable.
authors.affiliation: Pediatric Cardiology, AOU Policlinico-Vittorio Emanuele, via Santa Sofia, 78 - 95123 Catania, Italy. pietrosciacca@hotmail.it.
authors.forename: Pietro
authors.initials: P
authors.lastname: Sciacca
authors.forename: Valentina
authors.initials: V
authors.lastname: Giacchi
authors.forename: Carmine
authors.initials: C
authors.lastname: Mattia
authors.forename: Filippo
authors.initials: F
authors.lastname: Greco
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Smilari
authors.forename: Pasqua
authors.initials: P
authors.lastname: Betta
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Distefano
mesh_terms: D004252:DNA Mutational Analysis; D015150:Echocardiography, Doppler; D004562:Electrocardiography; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000379:methods; D006338:Heart Neoplasms / Q000150:complications* / Q000175:diagnosis / Q000401:mortality; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D011379:Prognosis; D012207:Rhabdomyoma / Q000150:complications* / Q000175:diagnosis / Q000401:mortality; D012307:Risk Factors; D014402:Tuberous Sclerosis / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics; D016216:Ultrasonography, Prenatal
chemical_list: C000624650:TSC1 protein, human; C000624653:TSC2 protein, human; D000077004:Tuberous Sclerosis Complex 1 Protein; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins