日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

The mTOR inhibitor, everolimus, has been reported to be effective against renal angiomyolipoma and subependymal giant cell astrocytoma, but its use for cardiac rhabdomyoma has been rarely reported. Here we report the case of a 10-month-old male infant who was diagnosed with tuberous sclerosis (TS) during the fetal stage after being identified with subependymal nodules in both the lateral ventricles and multiple cardiac tumors. After birth, the small cardiac tumors regressed, but the larger tumors persisted on the right ventricular septum and on the free wall and apex of the left ventricle. There was no stenosis of inflow or outflow routes. Intractable convulsions occurred 3 months after birth. Subependymal giant cell astrocytoma was found using cranial magnetic resonance imaging. Therefore, everolimus (3.0 mg/m²/day) was initiated 10 months after birth to treat the tumors. This resulted in regression of the subependymal giant cell astrocytoma and controlled the convulsions. The cardiac tumor on the left ventricular free wall disappeared after 1 month of everolimus administration, and the tumor on the apex of the left ventricle disappeared after 7 months. The tumor persisting on the right ventricular septum was 23.4×16.7 mm before everolimus was administered, but decreased to 16.1×4.3 mm after 1 month of its administration. Everolimus may cause rapid regression of cardiac rhabdomyoma that accompanies TS.