Perinatology.  2019 Dec;30(4):240-243. 10.14734/PN.2019.30.4.240.

Fetal Ultrasonography for Prenatal Detection of Tuberous Sclerosis Associated with Cardiac Rhabdomyoma

• Kang MJ
• Hong SY
• Kwon BY
• Jeong JE
• Bae JY

• KMID: 2468546
• DOI: http://doi.org/10.14734/PN.2019.30.4.240

Abstract

Cardiac rhabdomyoma is common cardiac mass found during the fetal period. Cardiac rhabdomyoma and tuberous sclerosis have significant associations. Tuberous sclerosis in newborns can cause disability in nearly all organs. Prenatal diagnosis of fetal tuberous sclerosis enables early evaluation and management of the affected infant. In Daegu Catholic University Hospital, a total of three cases of fetal intracranial tuberous sclerosis were diagnosed among five cases of fetal cardiac rhabdomyoma. The diagnosis in all three cases was confirmed by postnatal brain magnetic resonance imaging. Intracranial lesions appeared as multiple small, round and relatively hyperechoic masses on prenatal ultrasonography. Prenatal ultrasonography using transabdominal and transvaginal probes in various angles is helpful. As tuberous sclerosis is not observed in a single instance, regular follow-up examinations are necessary. Fetuses with cardiac rhabdomyoma require detailed prenatal evaluations for tuberous sclerosis, especially in the brain. For this, prenatal ultrasonography is a very useful technique.

Keyword

Heart neoplasms; Ultrasonography; Prenatal diagnosis; Tuberous sclerosis

MeSH Terms

Brain
Daegu
Diagnosis
Fetus
Follow-Up Studies
Heart Neoplasms
Humans
Infant
Infant, Newborn
Magnetic Resonance Imaging
Prenatal Diagnosis
Rhabdomyoma*
Tuberous Sclerosis*
Ultrasonography
Ultrasonography, Prenatal*

Figure

• 

  Fig. 1 (A) Fetal echocardiography showed multiple cardiac rhabdomyomas in the right ventricle, the left ventricle and the interventricular septum. (B) The para-sagittal view of the fetal brain showed multiple cortical tubers at the cerebral cortex as hyperechoic dots and round masses (arrowheads). (C) The coronal view of the fetal brain showed a single subependymal giant cell astrocytoma (SEGA) as a hypoechoic round mass adjacent to the foramen of Monro (asterisk). (D) The sagittal view of the fetal brain showed a subependymal nodule as an echogenic spot along the ependymal lining of the lateral ventricle (arrow). (E) Postnatal brain magnetic resonance imaging (MRI) of case no. 1. Hyperintensity of cortical and subcortical tubers in T1-weighted images (black arrows). (F) Postnatal brain MRI of case no. 4. SEGA within the lateral ventricle near the foramen of Monro (asterisk).

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