Prenatal diagnosis and clinical management of cardiac rhabdomyoma: a single-center study

• DOI: 10.3389/fcvm.2024.1340271
• Publication Date: 2024-02-16T04:34:22Z
• Authors: Longzhuang Peng; Youchun Cai; Jianhang Wu; Wen Ling; Qiumei Wu; Shan Guo; Biying Huang; Caihong Jiang; Zongjie Weng
• Keywords: Rhabdomyoma; Fetal echocardiography

Objective The study aims to assess the ultrasonic features of fetal cardiac rhabdomyoma (CR), track perinatal outcome and postnatal disease progression, investigate clinical utility ultrasound, MRI tuberous sclerosis complex (TSC) gene analysis in CR evaluation, offer evidence for determing prognosis. Methods We conducted a retrospective prenatal ultrasound-diagnosed cases our hospital from June 2011 2022, tracked outcomes, regularly followed live infants analyze lesion changes compared sensitivities their combination detecting intracranial sclerosing nodules. Results Our included 54 fetuses with CR: 32 pregnancies were terminated, 22 delivered, 35 diagnosed TSC, 13 had simple without 6 cases, remained unclear whether TSC accompanied due insufficient evidence. 45 (83.3%) multiple lesions, while 9 (16.7%) presented single lesion. Twelve intracardiac complications, all associated these exhibited larger maximum tumor diameters than non-complicated group. Multiple lesions more prevalent group However, there was no significant difference diameter between two groups. Among 30 who underwent brain MRI, 23 eventually 11 showing nodules by ultrasound 15 diagnostic consistency moderate ( k = 0.60). Twenty-two born up 6–36 months. diminished or disappeared 18 (81.8%), they unchanged 4 (18.2%). Ten out 12 surviving children developed epilepsy, 7 (58.3%) neurodevelopmental dysfunction. Conclusions majority involve which are primary risk factor TSC. Through examination is crucial assessing Although combined can detect fetuses, its sensitivity limited. sequencing an essential method. Simple generally have favorable