CASE REPORT article
Front. Pediatr.
Sec. Genetics of Common and Rare Diseases
Volume 13 - 2025 | doi: 10.3389/fped.2025.1681439
This article is part of the Research TopicNew Insights in Rare Genes Involved in Inherited Cardiac DiseasesView all articles
Case Report: Fetal Cardiac Rhabdomyoma Caused by TSC1 Mutation
Provisionally accepted
- Affiliated Hospital of Jining Medical University, Jining, China
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Fetal rhabdomyoma is a rare benign cardiac tumor that primarily occurs during the fetal or neonatal period and is often associated with Tuberous Sclerosis Complex (TSC). It is most commonly found in the heart (particularly in the ventricles or interventricular septum) but can also occur in other locations such as the head and neck. It may be accompanied by arrhythmias (e.g., supraventricular tachycardia), pericardial effusion, or fetal hydrops. Larger tumors can lead to blood flow obstruction, heart failure, or sudden death. In this case, prenatal ultrasound at 22 weeks of gestation suggested a "possible fetal left ventricular rhabdomyoma" in the proband. The parents were advised to undergo prenatal diagnosis but declined and opted for induced labor. Whole-exome sequencing (familybased) revealed a heterozygous TSC1 mutation in the proband, while both parents exhibited wildtype genotypes. This case report presents an instance of fetal cardiac rhabdomyoma induced by a heterozygous TSC1 mutation, providing valuable insights for the early diagnosis and management of intrauterine fetal cardiac developmental abnormalities.
Keywords: Fetal rhabdomyoma, Tuberous sclerosis complex (TSC), TSC1 mutation, Prenatal Diagnosis, Whole-exome sequencing
Received: 07 Aug 2025; Accepted: 29 Sep 2025.
Copyright: © 2025 Feng, Ren, Li, Liu and Li. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Xueqin Feng, fengxueqin4443@126.com
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