Fetal Cardiac Rhabdomyoma Diagnosed by Ultrasonography and Its Relation with Tuberous Sclerosis
Objective:To analyze the ultrasound features of fetal cardiac rhabdomyoma(CR)and its relationship with tuberous sclerosis(TSC),and explore the value of genetic testing in CR fetuses.Method:A retrospective analysis was conducted on the ultrasound images and clinical data of 9 fetuses diagnosed with CR by prenatal ultrasound.Result:All 9 fetuses were found to have cardiac space occupying lesions,with 1 case having a single nodule and 8 cases having multiple nodules.Nodules are distributed in the atria,ventricles,and ventricular walls,presenting as round solid hyperechogenicity with stable morphology,smooth surface,and uniform echo.The boundary between the nodules and myocardial tissue is unclear,and no blood flow signal is observed in all nodules.Among the 9 fetuses,7 were induced,of which 4 were pathologically confirmed to be CR,and 2 were confirmed to have TSC2 gene mutations through genetic testing.1 case continued pregnancy and 1 case lost follow-up.Conclusion:Fetal CR has typical ultrasound manifestations,and CR fetuses are often accompanied by TSC.A positive TSC gene test can determine whether the fetus is TSC.
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