Symptomatic improvement using everolimus in infants with cardiac rhabdomyoma.

BACKGROUND

Cardiac rhabdomyoma (CR) often shows spontaneous regression and needs close follow-up. These tumors may be associated with tuberous sclerosis complex (TSC), caused by the disinhibition of m-TOR protein.

OBJECTIVE

The aim of the study is to observe the efficacy of everolimus in infants with significant CR.

MATERIALS AND METHODS

This is a single-center prospective observational study including infants with significant CR causing either clinical symptoms or obstruction to the blood flow. Everolimus was administered at a dose of 4.5 mg/M2/wk till the symptomatic improvement. Liver and renal function tests were monitored during treatment.

RESULTS

There were six cases of suspected CR included in the study. Median age and weight of patients were 5 days (range: 1-90 days) and 3.2 kg (range: 2.2-4.5 kg), respectively. One patient was excluded after surgical excision biopsy during concomitant closure of associated large perimembranous ventricular septal defect confirmed it as a fibroma. The remaining all five cases showed regression of tumor during mean follow-up of 6.1 ± 5.1 months. One child developed varicella infection necessitating temporary discontinuation of medicine during follow-up. One case had sudden death at 4 months of age.

CONCLUSION

Everolimus appears to be useful in selected cases of symptomatic CR. Multicentric studies are needed to determine its safety and efficacy in larger population.