Innovative Strategies for the Management of a Massive Neonatal RhabdomyomaFunding None.
10 May 2017
09 August 2017
12 September 2017 (eFirst)
Rhabdomyomas are histologically benign tumors known to be associated with tuberous sclerosis. The natural history predicts the majority of tumors to be asymptomatic and regress within the first year of life. We describe a neonate presenting on day 1 of life with cardiovascular collapse secondary to a massive rhabdomyoma. Surgical resection was excluded due to the extensive nature of the lesion and oral sirolimus, a mammalian target of rapamycin inhibitor, was commenced to promote tumor regression. The patient developed intractable arrhythmias requiring extracorporeal life support during therapy.
- 1 Miyake CY, Del Nido PJ, Alexander ME. , et al. Cardiac tumors and associated arrhythmias in pediatric patients, with observations on surgical therapy for ventricular tachycardia. J Am Coll Cardiol 2011; 58 (18) 1903-1909
- 2 Smythe JF, Dyck JD, Smallhorn JF, Freedom RM. Natural history of cardiac rhabdomyoma in infancy and childhood. Am J Cardiol 1990; 66 (17) 1247-1249
- 3 Van Hare GF, Phoon CK, Munkenbeck F, Patel CR, Fink DL, Silverman NH. Electrophysiologic study and radiofrequency ablation in patients with intracardiac tumors and accessory pathways: is the tumor the pathway?. J Cardiovasc Electrophysiol 1996; 7 (12) 1204-1210
- 4 Bar-Cohen Y, Silka MJ, Sklansky MS. Images in cardiovascular medicine. Neonatal tuberous sclerosis and multiple cardiac arrhythmias. Circulation 2007; 115 (15) e395-e397
- 5 Chao AS, Chao A, Wang TH. , et al. Outcome of antenatally diagnosed cardiac rhabdomyoma: case series and a meta-analysis. Ultrasound Obstet Gynecol 2008; 31 (03) 289-295
- 6 Goyer I, Dahdah N, Major P. Use of mTOR inhibitor everolimus in three neonates for treatment of tumors associated with tuberous sclerosis complex. Pediatr Neurol 2015; 52 (04) 450-453
- 7 Doğan V, Yeşil Ş, Kayalı Ş. , et al. Regression of symptomatic multiple cardiac rhabdomyomas associated with tuberous sclerosis complex in a newborn receiving everolimus. J Trop Pediatr 2015; 61 (01) 74-77
- 8 Mohamed I, Ethier G, Goyer I, Major P, Dahdah N. Oral everolimus treatment in a preterm infant with multifocal inoperable cardiac rhabdomyoma associated with tuberous sclerosis complex and a structural heart defect. BMJ Case Rep 2014; 2014 (14) bcr2014205138
- 9 Breathnach C, Pears J, Franklin O, Webb D, McMahon CJ. Rapid regression of left ventricular outflow tract rhabdomyoma after sirolimus therapy. Pediatrics 2014; 134 (04) e1199-e1202
- 10 Demir HA, Ekici F, Yazal Erdem A, Emir S, Tunç B. Everolimus: a challenging drug in the treatment of multifocal inoperable cardiac rhabdomyoma. Pediatrics 2012; 130 (01) e243-e247
- 11 Tiberio D, Franz DN, Phillips JR. Regression of a cardiac rhabdomyoma in a patient receiving everolimus. Pediatrics 2011; 127 (05) e1335-e1337
- 12 Kaylani S, Theos AJ, Pressey JG. Treatment of infantile hemangiomas with sirolimus in a patient with PHACE syndrome. Pediatr Dermatol 2013; 30 (06) e194-e197
- 13 Moavero R, Coniglio A, Garaci F, Curatolo P. Is mTOR inhibition a systemic treatment for tuberous sclerosis?. Ital J Pediatr 2013; 39: 57
- 14 Hay N, Sonenberg N. Upstream and downstream of mTOR. Genes Dev 2004; 18 (16) 1926-1945
- 15 Choudhry S, Nguyen HH, Anwar S. Rapid resolution of cardiac rhabdomyomas following everolimus therapy. BMJ Case Rep 2015; DOI: 10.1136/bcr-2015-212946.