2020, Number 5
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Acta Pediatr Mex 2020; 41 (5)
Everolimus response in a newborn with cardiac rhabdomyoma associated to tuberous sclerosis complex: Case report
Esmer-Sánchez MC, Rubio-Hernández ME, Morales-Ibarra JJ, Reyes-Vaca JG, Villegas-Valdez DMM, Gómez-Elías CL, Bravo-Oro A
Language: Spanish
References: 19
Page: 208-214
PDF size: 319.51 Kb.
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.
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