Abstract
The long-term prognosis of a fetus with cardiac rhabdomyoma (CR) depends on the correlation with tuberous sclerosis complex (TSC). In recent years, the numerous variations of uncertain significance (VUS) of TSC genes produced by high-throughput sequencing have made counseling challenging, studies until now have tended to side-step the tricky topics. Here, we integrated detailed parental phenotype, echocardiography, neuro MRI, and genetic information to conduct a comprehensive evaluation of 61 CR fetuses. As a result, multiple CRs and cerebral lesions appeared in 90 and 80%, respectively of fetuses with pathogenic (P)/likely pathogenic (LP) TSC1/TSC2 variations. Overall, 85.7% of the live-born infants with P/LP presented with TSC-associated signs. While, 85.7% of VUS without nervous findings had good prognoses. Genetic evidence and cerebral MRI findings are the most sensitive index to assess long-term prognosis, which complement and confirm each other for a TSC diagnosis. In total, 68.9% of fetuses with CR could benefit from this multidisciplinary approach, which turned out to be potentially clinically actionable with precise clinical/genetic diagnosis or had a foreseeable outcome. Our practice provides a practical and feasible solution for perinatal management and prognostic guidance for fetuses with CR.
Highlights
Cardiac rhabdomyoma (CR) is one of the most common primary cardiac tumors which occurs predominately in infants and children
There were 59 single pregnancies and two dichorionic twin pregnancies, in which one of the fetuses presented with cardiac rhabdomyoma (CR)
When we focused on variations of uncertain significance (VUS), poor prognosis presented in all the truncating variant fetuses
Summary
Cardiac rhabdomyoma (CR) is one of the most common primary cardiac tumors which occurs predominately in infants and children. The reported incidence varies from 0.02 to 0.17% in liveborn infants, and 0.12% in prenatal fetal studies [1, 2]. CR is unpredictable and occurs anywhere in the heart, which may result in arrhythmias, effusions, fetal hydrops, and even stillbirth. It is worth noting, to some extent, that CR is a characteristic sign and an initial symptom for tuberous sclerosis complex (TSC) prenatally, which has a high possibility of neurological development disorder. Reported rates of TSC in fetuses with
Sign-in/Register to view highlights & summary Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
