Quantitative imaging in medicine and surgery · 2025
Prenatal ultrasound diagnosis of fetal cardiac rhabdomyoma and analysis of clinical outcomes.
СтатьяНазвание и аннотация: Перевод в очереди
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Zhao Jing, Jia Pujuan, Zhang Qian, Li Tiangang, Ma Bin, Yan Zhiheng
Аннотация
BACKGROUND: Fetal cardiac tumors are relatively rare among congenital heart diseases (CHDs). The presence of cardiac rhabdomyoma (CR) during fetal development may serve as the earliest clinical sign of tuberous sclerosis complex (TSC), with multiple CRs being a strong predictor of TSC. This study aimed to summarize the ultrasound image characteristics of fetal CR and follow up the comprehensive information of prenatal magnetic resonance imaging (MRI) examination, genetics, and postnatal changes in clinical outcomes to improve the detection rate and optimize the outcome of the diagnosis and treatment.
METHODS: A retrospective analysis was performed on prenatal ultrasound diagnostic data from 36 fetal CRs, including lesion characteristics (number, location, size, and associated complications), as well as follow-up information during pregnancy and within 1 year of birth.
RESULTS: Among the 36 cases of CR, 11 patients (31%) underwent MRI examinations. Of these, five cases presented with subependymal nodules on cranial MRI, suggestive of TSC; one case showed asymmetric bilateral lateral ventricles and dilation of the vein of Galen; and one case revealed multiple hemorrhages in the cerebral parenchyma and subependymal regions, along with left lateral ventricular enlargement. The remaining four MRI results were negative. Genetic testing identified abnormalities in 6 cases (17%), including five with TSC-related gene mutations and one with a whole exome sequencing (WES) anomaly. Pregnancy was terminated in 12 cases (33%). Postnatal follow-up demonstrated no significant change in CR size in one case, a reduction in CR size in one case, and complete regression of CR in three cases.
CONCLUSIONS: Echocardiography plays a critical role in diagnosing CR. For fetuses prenatally diagnosed with CR, routine cranial MRI and whole exome genetic testing should be performed to confirm the presence of TSC or other pathogenic variants, which is essential for early clinical intervention and decision-making.
METHODS: A retrospective analysis was performed on prenatal ultrasound diagnostic data from 36 fetal CRs, including lesion characteristics (number, location, size, and associated complications), as well as follow-up information during pregnancy and within 1 year of birth.
RESULTS: Among the 36 cases of CR, 11 patients (31%) underwent MRI examinations. Of these, five cases presented with subependymal nodules on cranial MRI, suggestive of TSC; one case showed asymmetric bilateral lateral ventricles and dilation of the vein of Galen; and one case revealed multiple hemorrhages in the cerebral parenchyma and subependymal regions, along with left lateral ventricular enlargement. The remaining four MRI results were negative. Genetic testing identified abnormalities in 6 cases (17%), including five with TSC-related gene mutations and one with a whole exome sequencing (WES) anomaly. Pregnancy was terminated in 12 cases (33%). Postnatal follow-up demonstrated no significant change in CR size in one case, a reduction in CR size in one case, and complete regression of CR in three cases.
CONCLUSIONS: Echocardiography plays a critical role in diagnosing CR. For fetuses prenatally diagnosed with CR, routine cranial MRI and whole exome genetic testing should be performed to confirm the presence of TSC or other pathogenic variants, which is essential for early clinical intervention and decision-making.