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胎儿心脏横纹肌瘤的动态演变:产前诊断及产后超声心动图分析

Dynamic evolution of fetal cardiac rhabdomyomas: prenatal diagnosis and postnatal echocardiographic insights.

作者信息

Kavgacı Akif, Arı Mehmet Emre

机构信息

Department of Pediatric Cardiology, Ankara Etlik City Hospital, Ankara, Turkey.

出版信息

Eur J Pediatr. 2025 May 9;184(6):332. doi: 10.1007/s00431-025-06164-y.

DOI:10.1007/s00431-025-06164-y
PMID:40343543
Abstract

UNLABELLED

Rhabdomyoma is the most common cardiac tumor in fetuses, frequently associated with tuberous sclerosis complex, particularly in cases with multiple tumors and a positive family history (1). Our aim is to retrospectively evaluate four fetal cardiac rhabdomyoma cases diagnosed via fetal echocardiography, with an emphasis on the importance of early recognition and multidisciplinary postnatal follow-up to better understand the variable clinical course and optimize management strategies.

CONCLUSION

Cardiac rhabdomyomas require early prenatal recognition and genetic counseling to manage potential cardiac and extracardiac complications. A multidisciplinary follow-up approach enhances postnatal outcomes and informs the management of future pregnancies.

WHAT IS KNOWN

• Fetal cardiac rhabdomyomas are the most common primary cardiac tumors in utero and are often associated with tuberous sclerosis complex.

WHAT IS NEW

• This case series highlights the diverse postnatal tumor behaviors-including growth, stability, and regression-emphasizing the need for individualized follow-up.

摘要

未标注

横纹肌瘤是胎儿最常见的心脏肿瘤,常与结节性硬化症相关,尤其是在有多发性肿瘤和阳性家族史的病例中(1)。我们的目的是回顾性评估通过胎儿超声心动图诊断的4例胎儿心脏横纹肌瘤病例,重点强调早期识别和多学科产后随访的重要性,以更好地了解可变的临床病程并优化管理策略。

结论

心脏横纹肌瘤需要在产前早期识别并进行遗传咨询,以管理潜在的心脏和心脏外并发症。多学科随访方法可改善产后结局并为未来妊娠的管理提供依据。

已知信息

• 胎儿心脏横纹肌瘤是子宫内最常见的原发性心脏肿瘤,常与结节性硬化症相关。

新发现

• 本病例系列突出了产后肿瘤的多种行为,包括生长、稳定和消退,强调了个体化随访的必要性。

相似文献

1
Dynamic evolution of fetal cardiac rhabdomyomas: prenatal diagnosis and postnatal echocardiographic insights.胎儿心脏横纹肌瘤的动态演变:产前诊断及产后超声心动图分析
Eur J Pediatr. 2025 May 9;184(6):332. doi: 10.1007/s00431-025-06164-y.
2
Cardiac rhabdomyoma in intrauterine life: clinical features and natural history. A case series and review of published reports.宫内生活中的心脏横纹肌瘤:临床特征与自然病史。病例系列及已发表报告综述。
Ital Heart J. 2002 Jan;3(1):48-52.
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Cardiac rhabdomyoma and tuberous sclerosis: prenatal diagnosis and follow-up.心脏横纹肌瘤与结节性硬化症:产前诊断与随访
Indian J Pediatr. 2003 Jan;70(1):87-9. doi: 10.1007/BF02722750.
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Cardiac rhabdomyoma with tuberous sclerosis: a case report.心脏横纹肌瘤合并结节性硬化症:一例报告
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Fetal rhabdomyoma: a prenatal echocardiographic marker of tuberous sclerosis.胎儿横纹肌瘤:结节性硬化症的产前超声心动图标志物。
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Considerations for prenatal counselling of patients with cardiac rhabdomyomas based on their cardiac and neurologic outcomes.基于心脏横纹肌瘤患者的心脏和神经学转归进行产前咨询的考量因素。
Cardiol Young. 2010 Feb;20(1):18-24. doi: 10.1017/S1047951109992046. Epub 2010 Jan 22.
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Multiple cardiac masses diagnosed with prenatal ultrasonography in the fetus of a woman with tuberous sclerosis.一名患有结节性硬化症的女性胎儿经产前超声检查诊断出多个心脏肿块。
Can Assoc Radiol J. 1995 Dec;46(6):461-4.
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本文引用的文献

1
Characteristics and Outcomes of Fetal Cardiac Rhabdomyoma With or Without mTOR Inhibitors, a Systematic Review and Meta-Analysis.伴有或不伴有 mTOR 抑制剂的胎儿心脏横纹肌瘤的特征和结局:系统评价和荟萃分析。
Prenat Diagn. 2024 Sep;44(10):1251-1267. doi: 10.1002/pd.6640. Epub 2024 Aug 20.
2
Prenatal diagnosis and clinical management of cardiac rhabdomyoma: a single-center study.心脏横纹肌瘤的产前诊断与临床管理:一项单中心研究
Front Cardiovasc Med. 2024 Feb 16;11:1340271. doi: 10.3389/fcvm.2024.1340271. eCollection 2024.
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Efficacy of Everolimus Low-Dose Treatment for Cardiac Rhabdomyomas in Neonatal Tuberous Sclerosis: Case Report and Literature Review.
依维莫司低剂量治疗新生儿结节性硬化症心脏横纹肌瘤的疗效:病例报告及文献综述
Pediatr Rep. 2021 Mar 1;13(1):104-112. doi: 10.3390/pediatric13010015.
4
Fetal cardiac tumor: echocardiography, clinical outcome and genetic analysis in 53 cases.胎儿心脏肿瘤:53 例病例的超声心动图、临床结果和遗传学分析。
Ultrasound Obstet Gynecol. 2019 Jul;54(1):103-109. doi: 10.1002/uog.19108. Epub 2019 Jun 12.
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Fetal Primary Cardiac Tumors During Perinatal Period.围产期胎儿原发性心脏肿瘤
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Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 Iinternational Tuberous Sclerosis Complex Consensus Conference.结节性硬化症综合诊断标准更新:2012 年国际结节性硬化症共识会议推荐。
Pediatr Neurol. 2013 Oct;49(4):243-54. doi: 10.1016/j.pediatrneurol.2013.08.001.
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Fetal cardiac rhabdomyoma with hydrops fetalis: report of 2 cases and literature review.胎儿心脏横纹肌瘤伴胎儿水肿:2 例报告及文献复习。
J Ultrasound Med. 2012 Nov;31(11):1821-4. doi: 10.7863/jum.2012.31.11.1821.
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Fetal and neonatal cardiac tumors.胎儿及新生儿心脏肿瘤。
Pediatr Cardiol. 2004 May-Jun;25(3):252-73. doi: 10.1007/s00246-003-0590-4.