Pathogenesis, prenatal diagnosis and clinical features of fetal cardiomyopathies
10.3760/cma.j.cn131148-20220111-00029
- VernacularTitle:胎儿心肌病的病因、产前超声诊断及临床特征
- Author:
Xin WANG
1
;
Xiaowei LIU
;
Xiaoyan HAO
;
Jiancheng HAN
;
Hairui SUN
;
Lin SUN
;
Ye ZHANG
;
Xiaoyan GU
;
Ying ZHAO
;
Zhuo CHEN
;
Shaomei YU
;
Jianfeng SHANG
;
Yihua HE
Author Information
1. 首都医科大学附属北京安贞医院心脏超声医学中心 北京安贞医院胎儿心脏病母胎医学中心，北京 100029
- Keywords:
Echocardiography;
Fetus;
Cardiomyopathy;
Prenatal diagnosis
- From:
Chinese Journal of Ultrasonography
2022;31(5):379-385
- CountryChina
- Language:Chinese
-
Abstract:
Objective:To summarize the etiological mechanism, echocardiographic and clinical features of fetal cardiomyopathies (FCMs).Methods:According to the data of echocardiography in Maternal-Fetal Medicine Center in Fetal Heart Disease of Beijing Anzhen Hospital during 2015 January to 2020 December, 70 cases with FCMs were retrospectively reviewed, and the clinical, ultrasonic, pathological and clinical outcome data were collected. Whole exome sequencing and whole genome sequencing were used to identify the genetic changes.Results:Primary FCMs were diagnosed in 55 cases (78.6%, 55/70), including 39 fetuses with non-compaction of the ventricular myocardium (NVM), 10 with dilated cardiomyopathy (DCM), 5 with hypertrophic cardiomyopathy (HCM), and 1 with restricted cardiomyopathy (RCM). Secondary FCMs were diagnosed in 15 cases (21.4%, 15/70), including 7 fetuses with maternal anti-Ro/La antibodies (presenting with DCM), 4 with twin-twin transfusion syndrome (2 with DCM and 2 with HCM), 2 with fetal anemia (presenting with DCM), 1 with maternal diabetes (presenting with HCM) and 1 with chorioangioma of the placenta (presenting with DCM). In all cases, 9 cases were born, 3 cases died in perinatal period, and 58 pregnancies were terminated due to ineffective treatment or the decisions of pregnant women. Thirty cases with primary FCMs were performed with genetic tests, and 13 of them were identified with positive genetic changes related to FCMs, including 12 cases with NVM and 1 with HCM.Conclusions:Primary FCMs are more common than secondary FCMs in fetal period. The genetic disorders have a high proportion in fetal NVM. Fetal DCM and HCM have a large spectrum of intrinsic and extrinsic causes.
