Objective:

To evaluate the features of prenatal ultrasound examination of cardiac rhabdomyoma (CR) and its prognosis.

Methods:

Imaging data of fetal cardiac tumors detected by prenatal ultrasound examinations

information of prenatal and postnatal fetal brain MRI results

and genetic test results were retrospectively analyzed to assess the prognosis of CR and its association with tuberous sclerosis complex (TSC).

Results:

A total of 36 cases were detected by prenatal ultrasound examinations

including 3 cases lost to follow-up. For the 33 cases included in the analyses

10 were single

and 23 were multiple. Most of the lesions were local

ized in the left or right ventricles. Five of the 33 CR cases had abnormal cardiac function. Prenatal or postnatal MRI discovered 16 cases combined with subependymal or cortical nodule lesions. And the incidence rate of TSC was 48.5% (16/33). Six cases of TSC underwent genetic tests

and

TSC

1 or

TSC

2 gene mutations were reported in 5 of them. All 14 delivered TSC cases had normal cardiac function

CR in 9 cases disappeared

9 cases had frequent or occasional seizures

and 7 cases had mental retardation or developmental delays.

Conclusion:

Prenatal ultrasound examination is the preferred method of detecting fetal cardiac tumors. In combination with brain MRI and genetic tests

prenatal ultrasound examination can be used to detect the coexistence of TSC. Therefore

prenatal ultrasound examination is of great significance in the management of perinatal period and guidance of prognosis.