1 岡山大学病院小児循環器科Okayama University Hospital, Pediatric Cardiology ◇ Okayama, Japan
2 岡山大学病院小児科Okayama University Hospital, Pediatrics ◇ Okayama, Japan
巨大な心臓横紋筋腫合併結節性硬化症（tuberous sclerosis: TS）患児に対し，救命のためeverolimusを使用し，腫瘍の縮小と血行動態の改善を得た症例を経験した．胎児診断症例．横紋筋腫，上衣下結節，多発性網膜過誤腫を認めTSと診断．横紋筋腫は巨大であり，右室内に充満していた．出生直後は無治療で経過をみることができ，動脈管自然閉鎖に伴う循環動態の変化も明らかではなかった．しかし心不全が徐々に進行し，日齢11より挿管人工呼吸管理を含む集中治療を開始した．腫瘍による圧排がその原因と考えられた．手術による摘除も困難な状況下で，救命のために適応外ではあるが日齢19よりeverolimus投与を開始した．投与開始後20日程度で腫瘍断面積は1/2以下に縮小した．縮小に伴い心不全も徐々に改善し，日齢42には抜管が可能であった．日齢93に退院した．横紋筋腫に対するeverolimus使用の報告は稀ではあるが，本症例では有効と考えられた．
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.
Key words: everolimus; tuberous sclerosis; rhabdomyoma
© 2016 特定非営利活動法人日本小児循環器学会© 2016 Japanese Society of Pediatric Cardiology and Cardiac Surgery
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This page was last modified on 2016-09-28T20:18:07.140+09:00
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