VP02.11: Cardiac rhabdomyoma with tuberous sclerosis: a case report

Abstract

Fetal cardiac rhabdomyoma is very rare; despite the fact that it is the most common prenatally diagnosed cardiac tumour. The imaging technology can find in antenatal period and because most of cases are associated with tuberous sclerosis complex, detecting mutations in the hamartin (TSC1) and tuberin (TSC2) genes could be the way to find causative. A 30-year-old nulligravida women at 38+0 weeks of gestation was referred to St Mary's Hospital, Seoul, for abnormal cardiac ultrasonographic findings. The patient had no genetic diseases and the patient's antenatal examination was normal. Antenatal ultrasonography revealed three echogenic masses in the fetal heart, one each in right atrium, right ventricle and left ventricle, measuring 10, 11, 8mm in diameter. Echocardiography demonstrated multiple cardiac mass although the fetal cardiac function was revealed to be within the normal range. The patient was hospitalised with the onset of spontaneous labour pain in the 39th week of gestation and Caesarean section delivery has done due to non-reassuring fetal status and a female infant weighing 3590g was delivered with Apgar scores of six and nine at one and five minutes after delivery. After birth, postnatal echocardiography confirmed the presence of cardiac rhabdomyoma. There was no evidence of outflow tract obstruction. Additional diagnosis of tuberous sclerosis complex was confirmed by genetic analysis. Analysis of the TSC1 and TSC2 genes were performed and a TSC1 gene de novo frame shift mutation was identified. Magnetic resonance imaging (MRI) for brain demonstrated multiple calcified subependymal nodules and other neurologic evaluation such as electrocardiogram and visual evoked potential was normal. During prenatal life she is clinically silent and undergoing periodic observation.