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 birth.It is cause...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 birth.It 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 on.Cardiac rhabdomyoma is the most common fetal heart tumor,accounting for about 60%of cases.It is closely related to TSC and may be the only manifestation of TSC which occurs during pregnancy.This 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 positively.The parents had no such mutation.However,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 pregnancy.Multiple hypo-pigmented spots(diameter>5 mm)were found immediately after birth.The 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 imaging.Most patients with TSC have epilepsy,and one-half or more have cognitive deficits and learning disabilities.So rigorous follow-up will continue for the case we reported.展开更多
基金This work was supported by the National Key Research and Development Program of China(No.2018YFC1002900)the National Natural Science Foundation of China(No.81671527)
文摘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 birth.It 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 on.Cardiac rhabdomyoma is the most common fetal heart tumor,accounting for about 60%of cases.It is closely related to TSC and may be the only manifestation of TSC which occurs during pregnancy.This 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 positively.The parents had no such mutation.However,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 pregnancy.Multiple hypo-pigmented spots(diameter>5 mm)were found immediately after birth.The 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 imaging.Most patients with TSC have epilepsy,and one-half or more have cognitive deficits and learning disabilities.So rigorous follow-up will continue for the case we reported.
