产前超声心动图诊断胎儿心肌致密化不全
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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。
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 5fetuses,left ventricle involvement was observed in 5fetuses,while right ventricle involvement was found in 2fetuses.FNVM mostly involved the left ventricular apical(n=10).Associated abnormalities of heart structures were noticed in 7fetuses,while 5fetuses were found with serous membrane fluid and 3fetuses with arrhythmia.Eight fetuses were tested for single gene mutation and copy number variations,among them 6 were detected with pathogenic gene mutations,1with the likely pathogenic gene mutation KCNH2 and 1with 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.
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 5fetuses,left ventricle involvement was observed in 5fetuses,while right ventricle involvement was found in 2fetuses.FNVM mostly involved the left ventricular apical(n=10).Associated abnormalities of heart structures were noticed in 7fetuses,while 5fetuses were found with serous membrane fluid and 3fetuses with arrhythmia.Eight fetuses were tested for single gene mutation and copy number variations,among them 6 were detected with pathogenic gene mutations,1with the likely pathogenic gene mutation KCNH2 and 1with 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.
引文
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[11] Menon SC,O'Leary PW,Wright GB,et al.Fetal and neonatal presentationofnoncompactedventricularmyocardium:Expanding the clinical spectrum.J Am Soc Echocardiogr,2007,20(12):1344-1350.
[12]郝晓艳,何怡华,张烨,等.超声心动图诊断胎儿心肌病.中国医学影像技术,2015,31(9):1359-1362.
[13] Wieczorek A,Hernandez-Robles J,Ewing L,et al.Prediction of outcome of fetal congenital heart disease using a cardiovascular profile score.Ultrasound Obstet Gynecol,2008,31(3):284-288.
[2] Tian L,Zhou Q,Zhou J,et al.Ventricular non-compaction cardiomyopathy:Prenatal diagnosis and pathology.Prenat Diagn,2015,35(3):221-227.
[3] Arunamata A,Punn R,Cuneo B,et al.Echocardiographic diagnosis and prognosis of fetal left ventricular noncom action.J Am Soc Echocardiography,2012,25(1):112-120.
[4]何怡华,姜玉新.胎儿心脏病产前超声诊断咨询及围产期管理指南.北京:人民卫生出版社,2015:7-20.
[5] Towbin JA, Lorts A,Jefferies JL. Left ventricular noncompaction cardiomyopathy.Lancet,2015,386(9995):813-825.
[6] Kelle AM,Bentley SJ,Rohena LO,et al.Ebstein anomaly,left ventricular non-compaction, and early onset heart failure associated with a de novoα-tropomyosin gene mutation.Am J Med Genet A,2016,170(8):2186-2190.
[7] Sthli BE,Gebhard C,Biaggi P,et al.Left ventricular noncompaction:Prevalence in congenital heart disease.Int J Cardiol,2013,167(6):2477-2481.
[8] St9llberger C, Wegner C, Finsterer J. Fetal ventricular hypertrabeculation/noncompaction:Clinicalpresentation,genetics,associated cardiac and extracardiac abnormalities and outcome.Pediatr Cardiol,2015,36(7):1319-1326.
[9]樊朝美,李一石,唐红伟,等.孤立性左心室肌致密化不全10例分析.中华心血管病杂志,2001,29(7):416-419.
[10] Zambrano E,Marshalko SJ,Jaffe CC,et al.Isolated noncompaction of the ventricular myocardium:Clinical and molecular aspected of rare cardiomyopathy.Lab Invest,2002,82(2):117-122.
[11] Menon SC,O'Leary PW,Wright GB,et al.Fetal and neonatal presentationofnoncompactedventricularmyocardium:Expanding the clinical spectrum.J Am Soc Echocardiogr,2007,20(12):1344-1350.
[12]郝晓艳,何怡华,张烨,等.超声心动图诊断胎儿心肌病.中国医学影像技术,2015,31(9):1359-1362.
[13] Wieczorek A,Hernandez-Robles J,Ewing L,et al.Prediction of outcome of fetal congenital heart disease using a cardiovascular profile score.Ultrasound Obstet Gynecol,2008,31(3):284-288.