Garg Ashish, Gorla Sudheer R, Kardon Richard E, Swaminathan Sethuraman
Division of Pediatric Cardiology, Holtz Children's Hospital, Jackson Memorial Medical Center, University of Miami Miller School of Medicine, Miami, FL, USA.
World J Pediatr Congenit Heart Surg. 2021 May;12(3):426-429. doi: 10.1177/2150135118822711. Epub 2019 May 9.
Rhabdomyoma of the fetal heart is a rare disease accounting for about 1% of all fetal cardiac structural anomalies. They are often found in association with tuberous sclerosis complex. Large cardiac rhabdomyomas can compromise the cardiac function. We report a case of multiple large rhabdomyomas of the right and left ventricles, affecting the cardiac function, which was successfully treated with the chemotherapeutic and immunosuppressive medication everolimus, in a neonate with genetically confirmed tuberous sclerosis complex with multisystem manifestations. There was rapid involution of the tumors in response to everolimus therapy in this infant.
胎儿心脏横纹肌瘤是一种罕见疾病,约占所有胎儿心脏结构异常的1%。它们常与结节性硬化症相关联。大型心脏横纹肌瘤会损害心脏功能。我们报告了一例患有基因确诊的伴有多系统表现的结节性硬化症的新生儿,其左右心室存在多个大型横纹肌瘤,影响心脏功能,使用化疗和免疫抑制药物依维莫司成功治疗。该婴儿的肿瘤在接受依维莫司治疗后迅速消退。