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

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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.