title: Regression of symptomatic multiple cardiac rhabdomyomas associated with tuberous sclerosis complex in a newborn receiving everolimus.
abstract: 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 sclerosis complex. Therapy with mTOR inhibitors is currently under investigation as a treatment option for tumors associated with TSC. In this report we present a case with multiple symptomatic rhabdomyomas associated with tuberous sclerosis complex, deemed to be ineligible for surgical removal, treated with everolimus (mTOR inhibitor).
  
  
  CONCLUSIONS
  As we observed in our patient, in cases with inoperable symptomatic rhabdomyomas associated with TSC, everolimus, an mTOR inhibitor, may be the treatment of choice, which should be confirmed with additional studies.
authors.affiliation: Department of Pediatric Cardiology, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey vdogan86@yahoo.com.
authors.forename: Vehbi
authors.initials: V
authors.lastname: Doğan
authors.affiliation: Department of Pediatric Oncology, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey.
authors.forename: Şule
authors.initials: Ş
authors.lastname: Yeşil
authors.affiliation: Department of Pediatric Cardiology, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey.
authors.forename: Şeyma
authors.initials: Ş
authors.lastname: Kayalı
authors.affiliation: Department of Neonatalogy, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey.
authors.forename: Serdar
authors.initials: S
authors.lastname: Beken
authors.affiliation: Department of Pediatric Cardiology, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey.
authors.forename: Senem
authors.initials: S
authors.lastname: Özgür
authors.affiliation: Department of Pediatric Cardiology, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey.
authors.forename: İlker
authors.initials: İ
authors.lastname: Ertuğrul
authors.affiliation: Department of Pediatric Oncology, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey.
authors.forename: Ceyhun
authors.initials: C
authors.lastname: Bozkurt
authors.affiliation: Department of Pediatric Cardiology, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey.
authors.forename: Utku Arman
authors.initials: UA
authors.lastname: Örün
authors.affiliation: Department of Pediatric Cardiology, Dr.Sami Ulus Maternity and Children Research and Training Hospital, Ankara, Turkey.
authors.forename: Selmin
authors.initials: S
authors.lastname: Karademir
mesh_terms: D004334:Drug Administration Schedule; D004452:Echocardiography; D000068338:Everolimus; D006338:Heart Neoplasms / Q000175:diagnosis / Q000188:drug therapy*; D006801:Humans; D007166:Immunosuppressive Agents / Q000008:administration & dosage* / Q000627:therapeutic use; D007231:Infant, Newborn; D008297:Male; D012207:Rhabdomyoma / Q000175:diagnosis / Q000188:drug therapy*; D020123:Sirolimus / Q000008:administration & dosage / Q000031:analogs & derivatives* / Q000627:therapeutic use; D058570:TOR Serine-Threonine Kinases / Q000037:antagonists & inhibitors*; D016896:Treatment Outcome; D014402:Tuberous Sclerosis / Q000188:drug therapy* / Q000276:immunology
chemical_list: D007166:Immunosuppressive Agents; D000068338:Everolimus; C546842:MTOR protein, human; D058570:TOR Serine-Threonine Kinases; D020123:Sirolimus
keywords: everolimus; newborn; rhabdomyoma; tuberous sclerosis complex