产前超声对肺静脉异位引流合并心脏畸形的诊断价值

Diagnostic Value of Anomalous Pulmonary Venous Connection Combined with Cardiac Malformation by Prenatal Echocardiography

目的探讨胎儿肺静脉异位引流(anomalous pulmonary venous connection,APVC)合并心脏畸形的产前超声心动图特点及漏误诊分析,为提高APVC的超声诊断准确率提供参考依据。方法回顾性分析2016年至2021年湖北省妇幼保健院产前超声心动图诊断APVC合并复杂心脏畸形患者29例的临床资料,其中病理解剖证实的APVC 12例,17例失访。分析对比12例APVC胎儿期超声心动图图像及病理解剖结果,总结超声心动图特征及漏误诊原因。结果29例APVC胎儿中,完全型APVC 24例:心上型15例,心下型8例,心内型1例。部分型APVC5例,心上型3例,心下型1例,心内型1例。2例存在共同肺静脉腔及门静脉汇合处梗阻;主要合并的心脏畸形有心内膜垫缺损11例,无脾综合征12例,肺动脉闭锁7例,单心房、单心室7例。病理解剖12例,其中完全型APVC 8例:心上型4例,心下型3例,混合型1例;部分型APVC 4例:心上型2例,心下型1例,心内型1例。合并心脏畸形中,完全性心内膜垫缺损8例,肺动脉狭窄7例,单心房和(或)单心室5例,右心房异构5例;心外畸形中脾脏缺如7例,内脏反位7例,腹主动脉与下腔静脉位于脊柱同侧,符合无脾综合征特征7例。结论产前超声可准确诊断APVC及分型,APVC合并心脏畸形多伴有脾脏缺如,可有特征性无脾综合征表现。

Objectives To investigate the characteristics,the cause of missing and misdiagnosis of prenatal echocardiography for anomalous pulmonary venous connection(APVC)combined with cardiac malformation,so to provide reference for improving the accuracy of ultrasonic diagnosis of APVC.Methods Retrospective analysis was performed on 29 cases of APVC with complex heart malformations diagnosed by echocardiography from 2016 to 2021 in Hubei Provincial Maternal and Child Health Hospital,among which,12 cases of APVC were confirmed by pathological anatomy,and 17 cases were lost to follow-up.Echocardiography images and pathological anatomical results of 12 fetal cases were analyzed and compared to summarize the characteristics of echocardiography and the causes of missing and misdiagnosis.Results Among the 29 cases with APVC,24 cases had total APVC:15 cases of cardiac type,8 cases of subcardiac type,and 1 case of intracardiac type;and 5 had partial APVC:3 cases of cardiac type,1 case of subcardiac type and 1 case of intracardiac type.In 2 cases,there was obstruction at the confluence of the common pulmonary vein lumen and portal vein.The main cardiac malformations were endocardial cushion defect in 11 cases,asplenia syndrome in 12 cases,pulmonary artery atresia in 7 cases,single atrium and single ventricle in 7 cases.Pathological anatomy was performed in 12 cases,including 8 total APVC:4 cases of cardiac type,3 cases of subcardiac type and 1 mixed type;and 4 had partial APVC:2 cases of cardiac type,1 case of subcardiac type and 1 case of intracardiac type.There were 8 cases of complete endocardial pad defect,7 cases of pulmonary artery stenosis,5 cases of single atrium and/or single ventricle,5 cases of right atrium isomerism.There were 7 cases of splenic absence and 7 cases of visceral transposition,and the abdominal aorta and inferior vena cava were located on the same side of the spine,which were consistent with the characteristics of asplenia syndrome in 7 cases.Conclusions Prenatal ultrasonography can accurately diagnose APVC and its classification.Ectopic pulmonary vein drainage combined with heart malformation is often accompanied by absence of spleen,which may have characteristic manifestations of asplenia syndrome.