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胎儿心脏横纹肌瘤作为结节性硬化症复合体的超声征象——不容忽视的诊断。一篇图文并茂的文章。

Fetal cardiac rhabdomyomas as a sonographic sign of tuberous sclerosis complex - a diagnosis not to be missed. A pictorial essay.

作者信息

Boitor Borza Dan, Popa Stanila Roxana, Zaharie Gabriela, Hasmasanu Monica, Muresan Daniel

机构信息

Department of Obstetrics and Gynecology UMF Cluj-Napoca.

Department of Radiology UMF Cluj-Napoca.

出版信息

Med Ultrason. 2022 Aug 31;24(3):364-368. doi: 10.11152/mu-3318. Epub 2022 Jan 3.

DOI:10.11152/mu-3318
PMID:35045142
Abstract

Fetal cardiac rhabdomyomas should trigger the awareness of a potential coexisting tuberous sclerosis complex that can lead to a poor neurological outcome. This condition is not only uncommon but can be easily unrecognized prenatally in the absence of a meticulous neurosonogram and MRI. We emphasize that careful consideration of all prenatal facilities is required to confirm the diagnosis of tuberous sclerosis complex as early as possible during pregnancy.

摘要

胎儿心脏横纹肌瘤应引起对潜在并存的结节性硬化症复合体的警惕,该病症可能导致不良的神经学预后。这种情况不仅不常见,而且在没有细致的神经超声检查和磁共振成像的情况下,很容易在产前未被识别。我们强调,需要仔细考虑所有产前检查手段,以便在孕期尽早确诊结节性硬化症复合体。

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1
Fetal cardiac rhabdomyomas as a sonographic sign of tuberous sclerosis complex - a diagnosis not to be missed. A pictorial essay.胎儿心脏横纹肌瘤作为结节性硬化症复合体的超声征象——不容忽视的诊断。一篇图文并茂的文章。
Med Ultrason. 2022 Aug 31;24(3):364-368. doi: 10.11152/mu-3318. Epub 2022 Jan 3.
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Sonographic diagnosis of fetal cardiac rhabdomyomas in two successive pregnancies in a woman with tuberous sclerosis.结节性硬化症女性连续两次妊娠中胎儿心脏横纹肌瘤的超声诊断
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Picture of the month: cardiac rhabdomyoma in tuberous sclerosis.本月图片:结节性硬化症中的心脏横纹肌瘤。
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Cardiac rhabdomyoma as a marker for the prenatal detection of tuberous sclerosis. Case report.心脏横纹肌瘤作为结节性硬化症产前检测的标志物。病例报告。
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[Cardiac rhabdomyomatosis associated with tuberous sclerosis].[与结节性硬化症相关的心脏横纹肌瘤病]
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引用本文的文献

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Isolated Asymptomatic Fetal Intracardiac Mass: A Case of Rhabdomyoma.孤立性无症状胎儿心脏内肿块:一例横纹肌瘤病例
Int Med Case Rep J. 2023 Feb 28;16:97-102. doi: 10.2147/IMCRJ.S402663. eCollection 2023.
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Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.产前表型分析:增强人类表型本体论的社区努力。
Am J Med Genet C Semin Med Genet. 2022 Jun;190(2):231-242. doi: 10.1002/ajmg.c.31989. Epub 2022 Jul 24.