产前超声诊断胎儿左心发育不良综合征伴左心室增大1例报告
Prenatal ultrasound diagnosis of fetal hypoplastic left heart syndrome with left ventricular enlargement:a case report
朱晨 1赵凡桂 1严英榴 1雷彩霞 2俞婷 3赵晨燕 3林如 1任芸芸1
作者信息
- 1. 复旦大学附属妇产科医院超声科 上海 200011
- 2. 复旦大学附属妇产科医院产前诊断中心 上海 200011;复旦大学附属妇产科医院病理科 上海 200011
- 3. 上海集爱遗传与不育诊疗中心 上海 200011
- 折叠
摘要
孕妇30岁,孕2产0.本次单胎妊娠,22周行孕中期超声畸形筛查提示为胎儿主动脉瓣闭锁,主动脉狭窄伴反流,二尖瓣闭锁,左心室明显增大,考虑左心发育不良综合征(hypoplastic left heart syndrome,HLHS).引产后胎儿基因检测结果为NOTCH1基因杂合变异,可致主动脉瓣病1型.胎儿尸解结果为主动脉瓣闭锁,二尖瓣增宽增厚,左心室增大伴心肌梗死.本文重点介绍该例HLHS伴左心室增大的超声表现及其血流动力学变化,以提高临床医师对HLHS疾病表型进行性改变的认识.
Abstract
The pregnant woman was 30 years old,G2P0.This singleton pregnancy at 22 weeks of gestation was screened for second-trimester ultrasound malformations,suggesting fetal aortic valve atresia,aortic stenosis with reverse blood flow,mitral valve atresia,and markedly enlarged left ventricle,which was considered for the diagnosis of hypoplastic left heart syndrome(HLHS).The pregnancy was terminated at our hospital and subsequently underwent genetic testing with results of heterozygous variants in the NOTCH1 gene,which can cause aortic valve disease type 1.The findings of the fetal autopsy were aortic valve atresia,mitral valve widening and thickening,and left ventricular enlargement with myocardial infarction.This report focuses on the ultrasound characteristics of HLHS with left ventricular enlargement and its hemodynamic changes in order to improve clinicians'understanding of the progressive changes in the disease phenotype of HLHS.
关键词
左心发育不良综合征(HLHS)/左心室增大/主动脉瓣闭锁/主动脉狭窄/胎儿/产前超声Key words
hypoplastic left heart syndrome(HLHS)/enlarged left ventricle/aortic valve atresia/aortic stenosis/fetus/prenatal ultrasound引用本文复制引用
出版年
2025
NETL
NSTL
万方数据