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病例报告:5 例产前胎儿超声诊断的变异型左心发育不良综合征。

Case Report: 5 Cases of Variant Hypoplastic Left Heart Syndrome Diagnosed on Prenatal Fetal Ultrasound.

机构信息

Maternal Fetal Medicine Division, Department of Obstetrics & Gynecology, Faculty of Medicine, Padjadjaran University/Dr. Hasan Sadikin, General Hospital Bandung, Bandung, West Java, Indonesia.

出版信息

Am J Case Rep. 2023 Oct 26;24:e940871. doi: 10.12659/AJCR.940871.

Abstract

BACKGROUND Hypoplastic left heart syndrome (HLHS) is a complex left-sided obstructive congenital cardiac condition with several variants. This report is of 5 cases with varying morphology of HLHS diagnosed by fetal prenatal ultrasound at the 4-chamber view (4CV) level. CASE REPORT Five cases were referred by obstetrics and gynecology specialists with preliminary information on visible congenital abnormalities in the third trimester. Fetal echocardiography showed that several morphological variants of HLHS were found. The patient in the first case had the most frequently found variant; this variation is usually linked to mitral valve stenosis (MVS). The second case had the characteristic of mitral valve atresia (MVA), and as a consequence, blood flow was not visible in this variant and the left ventricle (LV) was not clear or not adequately visualized by ultrasound. In the third case, the patient suffered from severe MVS and perhaps a small aorta. Uni-atrial conditions were described in the third case. In the fourth case, the patient had a narrow LV, MVA, ventricular septal defect, nearly united atrium, and tricuspid regurgitation. The fifth case was a case of HLHS with congenital diaphragmatic hernia. Further, 4 out of 5 of the cases were associated with widening of the cisterna magna and Dandy Walker syndrome-associated posterior fossa disorder malformations. The overall maternal age was over 35 years old in 4 cases. Karyotyping examination was not performed in all cases. CONCLUSIONS The role of ultrasound is very important in determining the diagnosis and the degree of development of hypoplastic LV. However, visualization at the 4CV level can detect abnormalities found in the LV.

摘要

背景

左心发育不全综合征(HLHS)是一种复杂的左侧阻塞性先天性心脏疾病,有多种变异。本报告介绍了通过胎儿产前超声在四腔心切面(4CV)水平诊断的 5 例具有不同形态的 HLHS 病例。

病例报告

这 5 例患者由妇产科专家转诊而来,他们在妊娠晚期初步发现了明显的先天性异常。胎儿超声心动图显示,发现了几种形态学变异的 HLHS。第一例患者具有最常见的变异类型,这种变异通常与二尖瓣狭窄(MVS)有关。第二例患者具有二尖瓣闭锁(MVA)的特征,因此在这种变异中看不到血流,左心室(LV)也无法通过超声清晰或充分显示。第三例患者患有严重的 MVS,并且主动脉可能较小。第三例患者存在单心房情况。第四例患者存在 LV 狭窄、MVA、室间隔缺损、几乎融合的心房和三尖瓣反流。第五例患者是一例伴有先天性膈疝的 HLHS 病例。此外,5 例中有 4 例合并后颅窝 Dandy Walker 综合征相关的脑池增宽和小脑发育不良畸形。4 例中的总产妇年龄超过 35 岁。并非所有病例均进行了核型分析检查。

结论

超声在确定左心室发育不全的诊断和严重程度方面具有重要作用。然而,4CV 水平的可视化可以检测到 LV 中发现的异常。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1cd9/10616901/bf4f8dde72b5/amjcaserep-24-e940871-g001.jpg

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