Diagnosis of Tuberous Sclerosis Complex and Epilepsy Outcomes in Children with Fetal Cardiac Rhabdomyoma: A Long Term Follow-up Study

Abstract

Purpose: Prenatal diagnosis of cardiac rhabdomyoma is suggestive of the presence of tuberous sclerosis complex (TSC), which is commonly associated with epilepsy. This study investigated the diagnostic rate of TSC, the incidence and treatment outcomes of epilepsy, and long-term neurodevelopmental outcomes in children with fetal cardiac rhabdomyoma. Methods: We retrospectively reviewed the medical records of 50 patients with fetal cardiac rhabdomyoma between 1995 and 2017 at the Asan Medical Center Children's Hospital. Twelve patients were excluded because of incomplete data or a follow-up of less than 1 year. Patients' medical records were assessed for the occurrence of epilepsy during follow-up, including treatment and outcomes, electroencephalography and magnetic resonance imaging, genetic analysis findings, and neurodevelopmental status. Results: Thirty-eight patients (23 males) were diagnosed with TSC. Twenty-eight (73.7%) developed epilepsy. Infantile spasms were observed in 22 patients (78.6%), and 21 (95.5%) received vigabatrin as the first treatment, achieving subsequent freedom from seizures. At the final evaluation, 17 patients (60%) were seizure-free for over 12 months. Seizure remission was not associated with seizure onset age, the presence of cortical tubers, or TSC1/2 mutations. Patients with epilepsy had a higher prevalence of poor neurodevelopmental outcomes than did those without epilepsy (P=0.008). Conclusion: A high TSC diagnostic rate and a high incidence of early-onset epilepsy were observed in patients with prenatal cardiac rhabdomyoma, and children with TSC and epilepsy showed poor neurodevelopmental outcomes. Therefore, monitoring with electroencephalography follow-up of infants with fetal cardiac rhabdomyoma may be helpful for the early detection and treatment of epilepsy.