A case report of tuberous sclerosis with cardiac rhabdomyomas diagnosed antenatally by fetal echocardiography

Abstract

Tuberous sclerosis is a multisystem disease, involving primarily the skin, the brain, the kidneys, the heart and the eyes. The most frequent cardiac tumor is rhabdomyoma. In our patient who was referred to our hospital due to fetal arrhythmia, multiple intracardiac masses were detected by fetal echocardiography performed in the 36th week of pregnancy. Cardiac rhabdomyoma was considered and the baby was investigated for tuberous sclerosis. The diagnosis of tuberous sclerosis was established by the presence of multiple subependymal calcific nodules and periventricular and subcortical tubers in the postnatal magnetic resonance imaging. Since the rhabdomyomas had not caused hemodynamic impairment, surgical treatment was not considered. The patient was followed up and we observed that rhabdomyomas regressed and arrhythmia decreased without any medical treatment. We wanted to point out that the diagnosis of tuberous sclerosis should be considered in cases presenting with intracardiac masses on fetal echocardiography.