Clinical Report: Labor Induction and Postnatal Care in Fetal Cardiac Rhabdomyoma

Overview

This case series examines three primigravid women with fetuses diagnosed with cardiac rhabdomyoma (CR) and highlights genetic factors influencing management decisions. Genetic testing revealed distinct TSC1 and TSC2 mutations.

Background

Fetal cardiac rhabdomyoma is the most common primary cardiac tumor in fetuses, often associated with tuberous sclerosis complex (TSC). Understanding the genetic underpinnings of CR is crucial for risk assessment and management strategies.

Data Highlights

No numerical or trial data presented in the article.

Key Findings

• Fetal cardiac rhabdomyoma is linked to tuberous sclerosis complex (TSC) in approximately 75% of cases.
• Genetic testing identified a paternally inherited TSC2 mutation and a de novo TSC1 mutation in two of the three cases.
• Differences in recurrence risk and long-term prognosis exist between TSC1 and TSC2 mutations.
• Multidisciplinary care is important for managing pregnancies affected by fetal CR.
• Timely diagnosis and management are critical for perinatal outcomes.

Clinical Implications

Healthcare providers should consider genetic testing for TSC1/TSC2 mutations in cases of suspected fetal cardiac rhabdomyoma.

Conclusion

This case series highlights the genetic heterogeneity of fetal cardiac rhabdomyoma and the necessity for tailored perinatal management strategies.

Related Resources & Content

1. Pediatric Cardiology, Management Approaches and Outcomes for Neonates and Infants with Cardiac Rhabdomyomas, 2024 -- Insights from a Single-Center Study
2. Pediatric Cardiology, Intrauterine Management of a Fetus Diagnosed with Familial Hypertrophic Cardiomyopathy Due to MYH7 Mutation, 2015
3. Pediatric Cardiology, Identification of New Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a Background of Dilated Cardiomyopathy and Sudden Cardiac Events, 2017
4. Pediatric Cardiology (Springer) — Fetal cardiomyopathy secondary to infiltrative cardiac fibroma
5. Everolimus and sirolimus in the treatment of cardiac rhabdomyomas in neonates
6. Prenatal diagnosis and clinical management of cardiac rhabdomyoma: a single-center study
7. Guidelines and Recommendations for Performance of the Fetal Echocardiogram: An Update from the American Society of Echocardiography
8. Prenatal diagnosis of cardiac rhabdomyoma: implications for predicting tuberous sclerosis complex and guiding perinatal management - Cai - 2026 - Ultrasound in Obstetrics & Gynecology - Wiley Online Library
9. Clinical practice recommendations for kidney involvement in tuberous sclerosis complex: a consensus statement by the ERKNet Working Group for Autosomal Dominant Structural Kidney Disorders and the ERA Genes & Kidney Working Group | Nature Reviews Nephrology
10. Update on Pediatric Surveillance Recommendations for PTEN Hamartoma Tumor Syndrome, DICER1-Related Tumor Predisposition, and Tuberous Sclerosis Complex - PubMed
11. ISUOG Practice Guidelines (updated): fetal cardiac screening - Carvalho - 2023 - Ultrasound in Obstetrics & Gynecology - Wiley Online Library
12. Care of the Fetus With Congenital Cardiovascular Disease: From Diagnosis to Delivery | Pediatrics | American Academy of Pediatrics
13. Standardized Clinical Assessment and Management Plan Enhances Neonatal Outcomes in Prenatally Diagnosed Congenital Heart Disease | Pediatric Cardiology | Springer Nature Link
14. Prenatal Care and Perinatal Regionalization for Congenital Heart Defects
15. Characteristics and Outcomes of Fetal Cardiac Rhabdomyoma With or Without mTOR Inhibitors, a Systematic Review and Meta-Analysis - SORA
16. Fetal cardiac rhabdomyomas susceptible to prenatal treatment with mTOR inhibitors: literature review and proposal of a prenatal management algorithm - PMC
17. Drug review: mTOR-inhibitor therapy in fetal cardiac rhabdomyoma—a tightrope walk - PMC