胎儿期重症三尖瓣下移畸形超声心动图特征8例病例系列报告  

Echocardiographic characteristics of 8 cases with severe ebstein's anomaly in the fetus: A case series report

作　　者：王燕 夏运凯 王兆富 李文秀[3] 耿斌[3] 王春霞[2] WANG Yan;XIA Yunkai;WANG Zhaofu;LI Wenxiu;GENG Bin;WANG Chunxia(Ultrasound Department,Children's Hospital of Shanxi Province Shanxi Maternal and Child Health Care Hospital,Taiyuan 030001,China;Ultrasound Department,Maternal and Child Health Hospital,Weifang,261011,China;Pediatric Cardiovascular Center,Beijing Anzhen Hospital Affiliated to the Capital Medical University,Beijing 100029,China)

机构地区：[1]山西省儿童医院(山西省妇幼保健院)超声科,太原030001 [2]山东省潍坊市妇幼保健院超声科,潍坊261011 [3]首都医科大学附属北京安贞医院儿童心血管病中心,北京100029

出　　处：《中国循证儿科杂志》2024年第2期116-120,共5页Chinese Journal of Evidence Based Pediatrics

基　　金：北京市自然科学基金项目:7202040。

摘　　要：背景重症三尖瓣下移畸形(EA)在产前及新生儿期超声心动图诊断有一定难度,一般预后较差,尽管外科治疗方式在逐步发展,但重症EA病例短期及长期病死率仍较高。目的 探讨胎儿期EA误诊病例的特异性超声征象,提高产前重症EA病例的超声诊断准确率。设计病例系列报告。方法 回顾性收集2017年5月至2024年4月在2个中心经胎儿或生后超声心动图诊断为重度EA的连续病例;采集孕妇资料(年龄、产前超声检查时的孕周、受孕方式、单胎或多胎、孕期服药史及家族史)和胎儿资料(心脏位置,各房室腔比例,三尖瓣各瓣叶附着点是否正常,三尖瓣各瓣叶、乳头肌及腱索是否存在,右室流出道发育情况,肺动脉发育情况,三尖瓣反流程度,动脉导管血流方向,是否合并其他的心脏畸形,是否终止妊娠,是否行手术治疗)。主要结局指标超声心动图特征。结果 8例胎儿重症EA进入本文分析,7例引产,1例分娩出生;合并室间隔缺损(VSD)1例,合并部分型房室间隔缺损1例;三尖瓣隔瓣完全缺失及重度发育不良7例,其中2例同时合并后瓣完全缺失及重度发育不良,仅后瓣完全缺失及重度发育不良1例。胎儿期特异性超声心动图特征:(1)室间隔随心动周期可见“抖动征”;(2)室间隔右室面三尖瓣瓣下腱索、乳头肌缺失,右室面光滑、无软组织覆盖,即“裸露征”;(3)隔瓣缺失时,三尖瓣隔瓣与冠状静脉窦壁连续性缺失;(4)肺动脉可出现发育不良,当存在VSD时,肺动脉可发育正常;(5)彩色多普勒显示右室血流往复折返,无明确的三尖瓣反流。结论 胎儿期室间隔“抖动征”、右室面“裸露征”、三尖瓣隔瓣与冠状静脉窦壁连续性缺失对诊断重症EA有较高的特异性,重症EA病例需与先天性三尖瓣口无功能进行鉴别诊断。Background Severe ebstein's anomaly(EA)is challenging to diagnose using prenatal and neonatal echocardiography and generally has a poor prognosis.Although surgical treatments are gradually advancing,the short-term and long-term mortality rates for severe EA cases remain high.Objective To explore the specific echocardiographic characteristics of misdiagnosed fetal cases of severe EA and improve the prenatal diagnosis accuracy.Design Case series reports.Methods Consecutive cases diagnosed with severe EA through fetal or postnatal echocardiography were retrospectively collected from May 2017 to April 2024 in two centers.We retrieved data on the mothers including age,gestational age at prenatal ultrasound,mode of conception,singleton or multiple pregnancies,medication history during pregnancy,and family history and fetuses including heart position,atrial and ventricular proportions,attachment points of the tricuspid valve leaflets,presence of tricuspid valve leaflets,papillary muscles,and chordae tendineae,development of the right ventricular outflow tract,pulmonary artery development,degree of tricuspid regurgitation,direction of ductus arteriosus blood flow,presence of other cardiac anomalies,termination of pregnancy,and surgical treatment.Main outcome measures Echocardiographic features.Results We enrolled 8 cases diagnosed with severe EA in the antenatal period,7 with induction of labor,and 1 with delivery.Among the 8 cases,1 case had ventricular septal defect(VSD)and 1 case had partial atrioventricular septal defect(AVSD).Seven cases had a complete absence and severe underdevelopment of the septal leaflet of the tricuspid valve.Among these,2 cases also had a complete absence and severe underdevelopment of the posterior leaflet,and one case only had the posterior leaflet completely absent and severely underdeveloped.Specific prenatal echocardiographic features include paradoxical movement of the ventricular septum observed throughout the cardiac cycle;absence of chordae tendineae and papillary muscles on the righ

关 键 词：三尖瓣下移畸形 先天性三尖瓣口无功能 超声心动描记术 产前 误诊 

分 类 号：R714.5[医药卫生—妇产科学]