Prenatal ultrasound diagnosis of fetal hypoplastic left heart syndrome with left ventricular enlargement:a case report
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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.
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.
hypoplastic left heart syndrome(HLHS)enlarged left ventricleaortic valve atresiaaortic stenosisfetusprenatal ultrasound
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