Sonographic diagnosis of fetal cardiac rhabdomyomas and cerebral tubers: a case report of prenatal Tuberous Sclerosis.

UNLABELLED: The rhabdomyoma constitutes more than 60% of all cardiac tumors that are diagnosed in the prenatal and postnatal age. In more than 50% of cases, it is the first clinical manifestation of tuberous sclerosis (TS), autosomal dominant genetic condition and multisystem involvement.

METHODS: we report a case of cardiac rabdomyomatosis in twin pregnancy bicorial biamniotic, with suspicion for tuberous sclerosis, diagnosed at our hospital. For the diagnosis of cardiac rhabdomyomas we used the two-dimensional ultrasound, and 3D echocardiography. For the diagnosis of intracranial subependymal nodules an ultrasound and RMN were used. Cesarean section was performed at 34 weeks. The diagnosis of tuberous sclerosis was confirmed at birth by genetic testing.

RESULTS: at birth, instrumental examinations have confirmed the ultrasonographic findings and genetic testing for the detection of tuberous sclerosis confirmed the suspected diagnosis. The cardiac lesions regressed spontaneously and the brain showed no progression.

CONCLUSION: the study of the fetal heart ultrasound has allowed an early prenatal diagnosis of cardiac neoplasms, allowing control of their development and their association with other lesions which then actually appeared in the suspicion of a genetic disease much more complex than the Tuberous Sclerosis.