Ghosh Somshukla, Milunski Mark R
Internal Medicine, University of Central Florida College of Medicine, Orlando, USA.
Cardiology, Orlando Veterans Affairs Medical Center, Orlando, USA.
Cureus. 2021 Apr 19;13(4):e14565. doi: 10.7759/cureus.14565.
Cardiac rhabdomyoma is a hamartoma comprised of cardiac myocytes. It is the classic cardiac manifestation of tuberous sclerosis complex (TSC) which is an autosomal dominant genetic syndrome with multi-organ involvement, but highly variable phenotype. Cardiac rhabdomyoma is most commonly diagnosed in infancy, 70 to 90% of whom have TSC. However, TSC-associated cardiac rhabdomyoma usually shows spontaneous regression within the first two years of life and hence is extremely rare in adults. We present a 34-year-old woman with TSC who was found to have a cardiac rhabdomyoma when she was referred to the cardiology clinic for evaluation and to establish care. Cardiac rhabdomyoma is usually asymptomatic. However, depending on size and location, it can cause outflow or inflow tract obstruction and aberrant electrical conduction. Hence, appropriate surveillance is important.
心脏横纹肌瘤是一种由心肌细胞组成的错构瘤。它是结节性硬化症(TSC)的典型心脏表现,TSC是一种常染色体显性遗传综合征,累及多器官,但表型高度可变。心脏横纹肌瘤最常在婴儿期被诊断出来,其中70%至90%患有TSC。然而,与TSC相关的心脏横纹肌瘤通常在生命的头两年内会自发消退,因此在成年人中极为罕见。我们报告一名34岁患有TSC的女性,她在被转诊至心脏病诊所进行评估和建立护理时被发现患有心脏横纹肌瘤。心脏横纹肌瘤通常无症状。然而,根据其大小和位置,它可能会导致流出道或流入道梗阻以及异常的电传导。因此,适当的监测很重要。