Clinical values of echocardiography in the diagnosis of fetal cardiac rhabdomyoma

Abstract

Objective To assess the clinical values of echocardiography in the diagnosis of fetal cardiac rhabdomyoma (CR). Methods From January 30, 2013 to January 30, 2018, a total of 12 fetuses diagnosed as CR by fetal echocardiography at Leshan People′s Hospital were selected as the research subjects. The echocardiography manifestations, autopsy or postpartum follow-up of those 12 fetuses with CR were analyzed by retrospective analysis method. The measurement data with normal distribution, such as the gestational age at the diagnosis of CR by echocardiography and the maximum diameter of tumor were expressed by ±s. All the pregnant women and her family agreed receiving fetal echocardiography, conducting autopsy on the induced fetus, conducting imaging examinations on the infants, and they signed the informed consent forms. The procedures in this study were in line with the requirements of the World Medical Association Declaration of Helsinki revised in 2013. Results ①Among the 12 fetuses with CR, the gestational age at the initial diagnosis of CR was (27.3±4.3) weeks. After being diagnosed as CR by fetal echocardiography, 5 fetuses were induced, 7 fetuses continued to be born. There were 3 fetuses with single tumor and 9 fetuses with multiple tumors. The maximum diameter of the tumor was (5.0±1.1) mm, and the tumors were more common in the left ventricle. The fetal CR in echocardiography was characterized by hyperechoic mass with clear boundary and wide base. ②Five cases of induced fetuses were confirmed to be CR by autopsy and myocardial histopathological examination. And gray nodules were found in the lateral ventricles of these 5 fetuses and they were diagnosed as fetal tuberous sclerosis (TSC). ③Seven fetuses were born, and the follow-up results of them within 6 months after birth showed that 2 cases were diagnosed as simple CR by MRI, and 5 cases were diagnosed as CR combined with TSC by CT and MRI. During the follow-up to 6 months after birth, the hyperechoic mass in the heart ventricles of those 7 infants did not regress, but the mass did not lead to cardiac inflow or outflow obstruction, and only 1 case occurred supraventricular tachycardia. Conclusions Echocardiography can provide an important basis for the prenatal diagnosis, consultation and prognosis evaluation of CR fetus, and has important clinical values. Because the sample size of this study is relatively small and this study is just a retrospective and descriptive study, the clinical values of echocardiography in the diagnosis of fetal CR remains to be confirmed by large-sample, multi-center, prospective studies. Key words: Echocardiography; Ultrasonography, prenatal; Heart neoplasms; Rhabdomyoma; Tuberous sclerosis; Tachycardia, supraventricular; Fetus