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PMID: 42495253 Published · epublish English

Case Report: Induction of labor and postpartum management for fetal cardiac rhabdomyoma: a genetic etiology-based analysis of three cases.

Liu X, Fu H, Ren Q, Shu H, Wu G, Xu H, Feng X

Abstract

Fetal cardiac rhabdomyoma (CR) is a rare primary cardiac tumor often linked to tuberous sclerosis complex (TSC) caused by TSC1/TSC2 mutations, yet its genetic heterogeneity and individualized perinatal management remain incompletely defined. This case series reports three primigravid women with fetuses diagnosed with CR at different gestational ages, who received induced labor via various regimens. Genetic testing identified a paternally inherited TSC2 mutation in one case, a de novo TSC1 mutation in another, while genetic analysis was declined in the third. Distinct differences exist in recurrence risk, long-term neurological prognosis and corresponding clinical decision-making between de novo TSC1 variants and paternally inherited TSC2 mutations, which fully reflects prominent genetic heterogeneity among TSC-related fetal CR. This study demonstrates the clinical and genetic heterogeneity of fetal CR, and highlights that ultrasound evaluation, TSC1/TSC2 genetic testing, and multidisciplinary care are crucial for guiding induction timing, perinatal management, and genetic counseling to improve perinatal outcomes.

Keywords
fetal rhabdomyoma genetic stratification induction of labor perinatal management tuberous sclerosis complex (TSC)
Article Info
Journal
Frontiers in pediatrics
Abbr.
Front Pediatr
ISSN
2296-2360
Language
English
Country/Region
Switzerland
NLM ID
101615492
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