Everolimus response in a newborn with cardiac rhabdomyoma associated to tuberous sclerosis complex: Case report

Abstract

BACKGROUND: Cardiac rhabdomyoma has a postnatal incidence of 1 in 40,000 and comprises 45-75% of tumors that are detected at the prenatal stage, with 70 to 80% of them associated with the tuberous sclerosis complex. CLINICAL CASE: Male fetus with a mass located over the wall of the left ventricle identified at 18 weeks of gestation, after birth developed tachycardia and respiratory distress; treatment with digoxin and furosemide was initiated. Cardiac rhabdomyoma was suspected; brain magnetic resonance showed multiple cortical tubers, left parietal linear marginal dysplasia and subependymal nodules, tuberous sclerosis complex diagnosis was made without confirmatory genetic testing. Everolimus was started; one-month later reduction of the tumor was observed with clinical improvement. After five-month the mass shrink and heart failure disappeared, and furosemide and digoxin were stopped. At 10 months he started with epilepsy, at 2 years the echocardiography and the neurodevelopment was normal, he continues with antiepileptic drugs and Everolimus without side effects. CONCLUSIONS: Everolimus is an alternative for the treatment of cardiac rhabdomyomas in patients with tuberous sclerosis with large tumors or surgically unreachable locations.