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

We report the case of a newborn who showed rapid regression of cardiac rhabdomyomas associated with tuberous sclerosis (TS) following everolimus therapy. The newborn was diagnosed with TS based on fetal echocardiography and fetal magnetic resonance imaging that showed multiple cardiac rhabdomyomas, a subependymal nodule, and multiple retinal hamartomas. One of the cardiac rhabdomyomas was very large, but there was no evidence of severe inflow or outflow tract obstruction, valvular dysfunction, or arrhythmia. His condition was stable for 10 days after birth. However, the newborn suffered circulatory collapse on the 11th day of life. He required intensive care, including mechanical ventilation and infusions of milrinone. Everolimus therapy was started on the 19th day of life as a rescue treatment. Echocardiography showed rapid regression of cardiac rhabdomyomas and improvement of cardiac function within a few weeks. This case demonstrated the efficacy of everolimus therapy for TS-related cardiac rhabdomyomas.