Prenatal ultrasound diagnosis of fetal hypoplastic left heart syndrome with left ventricular enlargement:a case report
10.3969/j.issn.1672-8467.2025.01.020
- VernacularTitle: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
- Author:
Chen ZHU
1
;
Fan-gui ZHAO
;
Ying-liu YAN
;
Cai-xia LEI
;
Ting YU
;
Chen-yan ZHAO
;
Ru LIN
;
Yun-yun REN
Author Information
1. 复旦大学附属妇产科医院超声科 上海 200011
- Publication Type:Journal Article
- Keywords:
hypoplastic left heart syndrome(HLHS);
enlarged left ventricle;
aortic valve atresia;
aortic stenosis;
fetus;
prenatal ultrasound
- From:
Fudan University Journal of Medical Sciences
2025;52(1):143-146
- CountryChina
- Language:Chinese
-
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.
