Paediatric Medicine, KK Women's and Children's Hospital, Singapore.
Paediatric Cardiology, KK Women's and Children's Hospital, Singapore
BMJ Case Rep. 2022 Mar 24;15(3):e244915. doi: 10.1136/bcr-2021-244915.
Cardiac rhabdomyoma is the most common cardiac tumour in childhood, with a strong genetic association to tuberous sclerosis complex. Although most of the patients remain asymptomatic, a small proportion present with cardiac complications in the early neonatal period. Timely initiation of treatment can potentially reduce disease morbidity, and mammalian target of rapamycin (M-TOR) inhibitors play an effective role in promoting regression of these tumours. A healthy term newborn was diagnosed with a giant congenital cardiac rhabdomyoma at birth. He developed clinical signs of compromised cardiac function and progressive myocardial ischaemia, with echocardiography showing significant dyskinesia. He was treated with M-TOR inhibitors and clinical response was monitored via serial echocardiography. Remarkable regression of the tumour was visibly demonstrated within 4 months of sirolimus treatment. The infant continues to be reviewed by a multidisciplinary team of physicians and monitored for features of tuberous sclerosis complex.
心脏横纹肌瘤是儿童期最常见的心脏肿瘤，与结节性硬化症复合物有很强的遗传关联。尽管大多数患者无症状，但一小部分患者在新生儿早期出现心脏并发症。及时开始治疗可以潜在地降低疾病发病率，并且哺乳动物雷帕霉素靶蛋白（M-TOR）抑制剂在促进这些肿瘤消退方面发挥有效作用。一名健康的足月新生儿出生时被诊断出患有巨大先天性心脏横纹肌瘤。他出现了心脏功能受损和进行性心肌缺血的临床症状，超声心动图显示明显的运动障碍。他接受了 M-TOR 抑制剂治疗，并通过连续超声心动图监测临床反应。在西罗莫司治疗 4 个月内，肿瘤明显消退。该婴儿继续由多学科医生团队进行评估，并监测结节性硬化症的特征。
