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Tuberous Sclerosis Complex Secondary to the Presence of Fetal cardiac rhabdomyoma:A Case Report and Literature Review

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Maternal-Fetal Medicine 2020年第4期2卷 240-243页

作者： Li Hui-Fan Wang Dong Li Jun-Qi Zhang Li Zhang Xu Qi Hong-Bo Li Jun-Nan Department of Obstetrics and Fetal Medicine Unit the First Affiliated Hospital of Chongqing Medical UniversityChongqing 400016China Department of Ultrasound The First Affiliated Hospital of Chongqing Medical UniversityChongqing 400010China Beijing G-Epigen Medical Technology Inc. Beijing 101300China

Fetal cardiac rhabdomyoma is associated with tuberous sclerosis complex(TSC)which is an autosomal dominant hereditary neurocutaneous disease with an incidence of approximately 1 in 5000 to 10000 live *** is caused by mutations in the TSC1 or TSC2 gene,de novo mutations accounting for approximately 80%of TSC cases,which can involve multiple organs and systems such as the heart,brain,kidney,lung,skin,and so *** rhabdomyoma is the most common fetal heart tumor,accounting for about 60%of *** is closely related to TSC and may be the only manifestation of TSC which occurs during *** study retrospectively analyzed the clinical data of a neonate with TSC diagnosed with fetal cardiac rhabdomyomas and confirmed by amniocentesis prenatal diagnosis as gene testing TSC1 gene *** parents had no such ***,due to the influence of the sudden coronavirus disease 2019(COVID-19)epidemic,the TSC genetic test report was not obtained until 38 weeks of *** hypo-pigmented spots(diameter>5 mm)were found immediately after *** characteristic cardiac feature of TSC is a rhabdomyoma and the diagnosis of TSC is based upon genetic testing and multiple ultrasound examinations or magnetic resonance *** patients with TSC have epilepsy,and one-half or more have cognitive deficits and learning *** rigorous follow-up will continue for the case we reported.

关键词： Tuberous sclerosis cardiac rhabdomyoma Prenatal diagnosis Gene Mutation

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