Department of Obstetrics and Gynecology, University of Ulsan College of Medicine, Asan Medical Center, Seoul, Korea.
Ultrasound Obstet Gynecol. 2013 Mar;41(3):306-11. doi: 10.1002/uog.11227.
Rhabdomyoma is the most common type of cardiac tumor in fetuses and is often associated with tuberous sclerosis complex (TSC) with neurologic sequelae. The purpose of this study was to investigate the cardiac and neurodevelopmental outcomes of fetal rhabdomyoma.
We reviewed the clinical characteristics of 23 cases of cardiac rhabdomyoma diagnosed prenatally by fetal echocardiography at the Asan Medical Center between January 1998 and December 2009. We also reviewed postnatal results of brain magnetic resonance imaging, echocardiography, renal ultrasound examination and molecular genetic analysis to confirm the presence of cardiac rhabdomyoma with or without TSC.
Among 23 cases, outcome data were available for 17 (73.9%) and six cases (26.1%) were lost to follow-up. The survival rate was 100.0% (17/17). Among the 17 cases with outcome data, spontaneous tumor regression occurred in eight (47.1%), and no change in tumor size and number was observed in the remaining nine cases (52.9%). There was no evidence of long-term cardiac dysfunction caused by persisting rhabdomyomas, regardless of tumor size. TSC was found in nine patients (52.9%), of whom five (55.6%) showed neurodevelopmental morbidity. We identified mutations in one of the TSC1 or TSC2 genes in four of nine TSC infants whose parents allowed us to perform molecular genetic analysis. Three of these (75.0%) were found to have neurologic impairment. Seven (77.8%) of nine TSC cases were non-familial.
The overall outcome of isolated cardiac rhabdomyoma appears to be favorable. We suggest that systematic postnatal evaluation of TSC be performed even in cases of cardiac rhabdomyoma without a family history of TSC. Molecular characterization of TSC1 and TSC2 might be helpful in predicting short- and long-term neurodevelopmental outcomes.
横纹肌瘤是胎儿心脏肿瘤中最常见的类型，常与结节性硬化症复合征（TSC）相关，并伴有神经后遗症。本研究旨在探讨胎儿横纹肌瘤的心脏和神经发育结局。
我们回顾了 1998 年 1 月至 2009 年 12 月期间在 Asan 医疗中心通过胎儿超声心动图诊断的 23 例心脏横纹肌瘤的临床特征。我们还回顾了脑磁共振成像、超声心动图、肾脏超声检查和分子遗传学分析的产后结果，以确认存在有或无 TSC 的心脏横纹肌瘤。
23 例中，17 例（73.9%）有结局数据，6 例（26.1%）失访。生存率为 100.0%（17/17）。在有结局数据的 17 例中，8 例（47.1%）肿瘤自发消退，9 例（52.9%）肿瘤大小和数量无变化。无论肿瘤大小如何，均未见持续存在的横纹肌瘤引起的长期心脏功能障碍。9 例（52.9%）发现 TSC，其中 5 例（55.6%）存在神经发育障碍。在允许我们进行分子遗传学分析的 9 例 TSC 婴儿中，有 4 例发现 TSC1 或 TSC2 基因的突变。其中 3 例（75.0%）存在神经损伤。9 例 TSC 中有 7 例（77.8%）为非家族性。
孤立性心脏横纹肌瘤的整体预后似乎较好。我们建议，即使在无 TSC 家族史的心脏横纹肌瘤病例中，也应进行系统的 TSC 产后评估。对 TSC1 和 TSC2 的分子特征分析可能有助于预测短期和长期的神经发育结局。
