| 郝晓艳,刘晓伟,张烨,薛超,谷孝艳,接连利,翁宗杰,王欣,何怡华.产前超声心动图诊断胎儿心肌致密化不全[J].中国介入影像与治疗学,2019,16(2):97-100 |
| 产前超声心动图诊断胎儿心肌致密化不全 |
| Prenatal chocardiography in diagnosis of fetal noncompaction of ventricular myocardium |
| 投稿时间：2018-09-01 修订日期：2018-12-06 |
| DOI：10.13929/j.1672-8475.201809002 |
| 中文关键词: 胎儿 超声心动图描记术 心肌致密化不全 预后 |
| 英文关键词:fetus echocardiography noncompaction of ventricular myocardium prognosis |
| 基金项目:北京市医院管理局临床医学发展专项经费（XMLX201604）、首都卫生发展科研专项经费（2016-1-2061）。 |
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| 中文摘要: |
| 目的 探讨产前超声心动图诊断胎儿心肌致密化不全的价值。方法 收集12胎胎儿心肌致密化不全（FNVM）的超声心动图资料，并与病理结果进行对照分析。结果 12胎FNVM，5胎累及双心室，5胎累及左心室，2胎累及右心室；累及节段以左心室心尖段为主（n=10）；7胎合并心脏结构异常，5胎合并浆膜腔积液，3胎合并心律失常。对8胎进行单基因及拷贝数变异检测，其中6胎检出致病性单基因变异，1胎疑似致病单基因变异KCNH2，1胎染色体微缺失。结论 FNVM可同时累及左右心室，并易合并右心系统结构异常、心律不齐及浆膜腔积液。产前超声心动图在FNVM的诊断、预后咨询中有重要作用。 |
| 英文摘要: |
| Objective To investigate the value of prenatal echocardiography in diagnosis of fetal noncompaction of ventricular myocardium (FNVM). Methods Echocardiographic data of 12 fetuses with FNVM were analyzed and compared with the pathological results. Results All 12 fetuses were diagnosed with FVNM. Biventricular involvement was detected in 5 fetuses, left ventricle involvement was observed in 5 fetuses, while right ventricle involvement was found in 2 fetuses. FNVM mostly involved the left ventricular apical (n=10). Associated abnormalities of heart structures were noticed in 7 fetuses, while 5 fetuses were found with serous membrane fluid and 3 fetuses with arrhythmia. Eight fetuses were tested for single gene mutation and copy number variations, among them 6 were detected with pathogenic gene mutations, 1 with the likely pathogenic gene mutation KCNH2 and 1 with chromosomal microdeletion. Conclusion FNVM can involve both the left and the right ventricles, which tends to combine with right sided lesions, arrhythmia and serous membrane fluid. Prenatal echocardiography may play an important role in the diagnosis, prognosis and parental counseling of FNVM. |
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