Regression of Cardiac Rhabdomyomas in a Neonate after Everolimus Treatment.

Helen Bornaun,Merih Cetinkaya,Tugba Erener-Ercan,Deniz Tugcu,Kazım Öztarhan,Reyhan Dedeoğlu,Çiğdem Aydoğmuş,Sultan Kavuncuoglu

doi:10.1155/2016/8712962

Abstract

Cardiac rhabdomyoma often shows spontaneous regression and usually requires only close follow-up. However, patients with symptomatic inoperable rhabdomyomas may be candidates for everolimus treatment. Our patient had multiple inoperable cardiac rhabdomyomas causing serious left ventricle outflow-tract obstruction that showed a dramatic reduction in the size after everolimus therapy, a mammalian target of rapamycin (mTOR) inhibitor. After discontinuation of therapy, an increase in the diameter of masses occurred and everolimus was restarted. After 6 months of treatment, rhabdomyomas decreased in size and therapy was stopped. In conclusion, everolimus could be a possible novel therapy for neonates with clinically significant rhabdomyomas.

Highlights

Primary cardiac tumors are rare during childhood
It frequently occurs in association with tuberous sclerosis (TSC), an autosomal dominant disorder that results in abnormal cellular proliferation and differentiation which are responsible for hamartomatous lesions that can affect the brain, kidney, heart, and lungs [1,2,3,4]
Everolimus is a derivative of sirolimus, which is approved by the FDA for the treatment of patients with subependymal giant-cell astrocytomas (SEGAs) associated with TSC, and acts to sirolimus as an inhibitor of mammalian target of rapamycin (mTOR); an everolimus trial is currently proceeding to attempt to treat symptomatic patients with inoperable CRs [5, 6]

Summary

Introduction

Cardiac rhabdomyoma is the most common benign pediatric tumor of the heart and accounts for approximately 10% of the tumors seen in the fetus and neonate [1,2,3]. It frequently occurs in association with tuberous sclerosis (TSC), an autosomal dominant disorder that results in abnormal cellular proliferation and differentiation which are responsible for hamartomatous lesions that can affect the brain, kidney, heart, and lungs [1,2,3,4]. We report a newborn with inoperable multifocal CRs and significant regression of cardiac masses after receiving everolimus

Case Presentation

Findings

Discussion