ArticleFrontiers in pediatrics2021
A Multidisciplinary Approach in Prenatal Diagnosis of TSC With Cardiac Rhabdomyoma as the Initial Symptom.
Article in Frontiers in pediatrics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 11 citations in OpenAlex.
- Prenatal diagnosis of cardiac rhabdomyoma: implications for predicting tuberous sclerosis complex and guiding perinatal management.Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology · 2026Article
- Prenatal ultrasound diagnosis of fetal cardiac rhabdomyoma and analysis of clinical outcomes.Quantitative imaging in medicine and surgery · 2026Article
- Case Report: Induction of labor and postpartum management for fetal cardiac rhabdomyoma: a genetic etiology-based analysis of three cases.Frontiers in pediatrics · 2026Article
- Case Report: Fetal cardiac rhabdomyoma caused by TSC1 mutation.Frontiers in pediatrics · 2025Article
- Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.European journal of human genetics : EJHG · 2024Review
- Case Report: Rare cardiovascular characteristics of tuberous sclerosis complex with novel TSC2 variant.Frontiers in cardiovascular medicine · 2024Article
- Prenatal diagnosis and clinical management of cardiac rhabdomyoma: a single-center study.Frontiers in cardiovascular medicine · 2024Article
- Cardiac rhabdomyomas and cerebral lesions in 4 pediatric patients with tuberous sclerosis.Radiology case reports · 2023Article
- Common benign primary pediatric cardiac tumors: a primer for radiologists.Japanese journal of radiology · 2023Review
- Surgery for Primary Cardiac Tumors in Children: Successful Management of Large Fibromas.Frontiers in cardiovascular medicine · 2022Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
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.
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