一例确诊TSC2新发突变胎儿心脏横纹肌瘤的诊疗启示

Diagnostic and Therapeutic Implications of a Fetal Cardiac Rhabdomyoma with a Newly Identified TSC2 Mutation

摘要: 目的：探讨胎儿心脏横纹肌瘤的产前诊断挑战及基于遗传预后的临床决策。方法：报道一例33岁初孕妇，胎儿孕21周排畸彩超阴性，孕24周超声发现胎儿心脏多发高回声团，经羊水穿刺全外显子组测序确诊TSC2基因新发突变。结果：序列超声证实心脏病灶进展且伴心律失常，孕妇及家属在充分知情基础上，基于胎儿预后选择终止妊娠。结论：本病例揭示了产前筛查对早期心脏横纹肌瘤的局限性，凸显动态监测与基因诊断对预后评估及临床决策的关键意义。

Abstract: Objective: Exploring the challenges of prenatal diagnosis of fetal cardiac rhabdomyoma and clinical decision-making based on genetic prognosis. Method: A case of a 33-year-old primigravida is reported. The fetal anomaly screening ultrasound at 21 weeks showed negative results. At 24 weeks of pregnancy, an ultrasound revealed multiple hyperechoic masses in the fetal heart. Through amniocentesis and whole exome sequencing, a new mutation in the TSC2 gene was confirmed. Result: Sequential ultrasound confirmed the progression of the heart disease lesion and the presence of arrhythmia. Based on full informed consent and consideration of fetal prognosis, the pregnant woman and her family opted for termination of regnancy. Conclusion: This case highlights the limitations of prenatal screening in detecting early cardiac rhabdomyomas, while emphasizing the crucial significance of dynamic monitoring and genetic diagnosis in prognosis assessment and clinical decision-making.