超声心动图对胎儿心脏横纹肌瘤诊断的临床价值
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摘要
目的探讨超声心动图诊断胎儿心脏横纹肌瘤(CR)的临床价值。方法选取2013年1月30日至2018年1月30日,于乐山市人民医院经胎儿超声心动图诊断为CR的12例胎儿为研究对象。采用回顾性分析方法,分析这12例CR胎儿的超声心动图特征、尸体解剖或继续妊娠受试儿分娩后进一步诊断结果。对于超声心动图诊断CR胎儿的胎龄、肿瘤最大直径等正态分布的计量资料,采用珚x±s表示。本研究对胎儿进行超声心动图检查,对引产胎儿进行尸体解剖,对分娩后受试儿进行影像学检查,均征得孕妇本人及受试儿监护人同意,并签署临床研究知情同意书。本研究遵循的程序符合2013年修订的《世界医学会赫尔辛基宣言》要求。结果 (1)本组12例胎儿被诊断为CR时,胎龄为(27.3±4.3)周;妊娠结局:被诊断为CR后,5例胎儿被引产,7例继续妊娠并分娩;单发性CR为3例,多发性CR为9例;肿瘤最大直径为(5.0±1.1)mm,以左心室CR多见;超声心动图特征:CR呈均匀强回声团,边界清晰,回声团基底较宽。(2)尸体解剖及心肌组织病理学检查结果(5例引产胎儿):经尸体解剖、心肌组织病理学检查均确诊为CR,并且均于侧脑室发现灰白色结节,而被诊断为胎儿结节性硬化症(TSC)。(3)继续妊娠受试儿分娩后进一步诊断结果(7例继续妊娠并分娩受试儿):2例于出生后6个月内,经MRI确诊为单纯性CR,5例经CT、MRI确诊为CR合并TSC。出生后6个月时,这7例受试儿的心室内强回声团均未消退,但是均未引起心脏流入道或流出道梗阻,仅1例出现室上性心动过速。结论超声心动图可为CR胎儿的产前诊断、咨询和预后评估提供重要依据,具有重要临床价值。因本研究纳入样本量相对较小,并且仅为回顾性、描述性研究,超声心动图对于CR胎儿的诊断价值,仍有待大样本、多中心、前瞻性研究进一步证实。
Objective To assess the clinical values of echocardiography in the diagnosis of fetal cardiac rhabdomyoma(CR).Methods From January 30,2013 to January 30,2018,a total of 12 fetuses diagnosed as CR by fetal echocardiography at Leshan People′s Hospital were selected as the research subjects.The echocardiography manifestations,autopsy or postpartum follow-up of those 12 fetuses with CR were analyzed by retrospective analysis method.The measurement data with normal distribution,such as the gestational age at the diagnosis of CR by echocardiography and the maximum diameter of tumor were expressed by±s.All the pregnant women and her family agreed receiving fetal echocardiography,conducting autopsy on the induced fetus,conducting imaging examinations on the infants,and they signed the informed consent forms.The procedures in this study were in line with the requirements of the World Medical Association Declaration of Helsinki revised in 2013.Results(1)Among the 12 fetuses with CR,the gestational age at the initial diagnosis of CR was(27.3±4.3)weeks.After being diagnosed as CR by fetal echocardiography,5 fetuses were induced,7 fetuses continued to be born.There were 3 fetuses with single tumor and 9 fetuses with multiple tumors.The maximum diameter of the tumor was(5.0±1.1)mm,and the tumors were more common in the left ventricle.The fetal CR in echocardiography was characterized by hyperechoic mass with clear boundary and wide base.(2)Five cases of induced fetuses were confirmed to be CR by autopsy and myocardial histopathological examination.And gray nodules were found in the lateral ventricles of these 5 fetuses and they were diagnosed as fetal tuberous sclerosis(TSC).(3)Seven fetuses were born,and the follow-up results of them within 6 months after birth showed that 2 cases were diagnosed as simple CR by MRI,and 5 cases were diagnosed as CR combined with TSC by CT and MRI.During the follow-up to 6 months after birth,the hyperechoic mass in the heart ventricles of those 7 infants did not regress,but the mass did not lead to cardiac inflow or outflow obstruction,and only 1 case occurred supraventricular tachycardia.Conclusions Echocardiography can provide an important basis for the prenatal diagnosis,consultation and prognosis evaluation of CR fetus,and has important clinical values.Because the sample size of this study is relatively small and this study is just a retrospective and descriptive study,the clinical values of echocardiography in the diagnosis of fetal CR remains to be confirmed by large-sample,multi-center,prospective studies.
Objective To assess the clinical values of echocardiography in the diagnosis of fetal cardiac rhabdomyoma(CR).Methods From January 30,2013 to January 30,2018,a total of 12 fetuses diagnosed as CR by fetal echocardiography at Leshan People′s Hospital were selected as the research subjects.The echocardiography manifestations,autopsy or postpartum follow-up of those 12 fetuses with CR were analyzed by retrospective analysis method.The measurement data with normal distribution,such as the gestational age at the diagnosis of CR by echocardiography and the maximum diameter of tumor were expressed by±s.All the pregnant women and her family agreed receiving fetal echocardiography,conducting autopsy on the induced fetus,conducting imaging examinations on the infants,and they signed the informed consent forms.The procedures in this study were in line with the requirements of the World Medical Association Declaration of Helsinki revised in 2013.Results(1)Among the 12 fetuses with CR,the gestational age at the initial diagnosis of CR was(27.3±4.3)weeks.After being diagnosed as CR by fetal echocardiography,5 fetuses were induced,7 fetuses continued to be born.There were 3 fetuses with single tumor and 9 fetuses with multiple tumors.The maximum diameter of the tumor was(5.0±1.1)mm,and the tumors were more common in the left ventricle.The fetal CR in echocardiography was characterized by hyperechoic mass with clear boundary and wide base.(2)Five cases of induced fetuses were confirmed to be CR by autopsy and myocardial histopathological examination.And gray nodules were found in the lateral ventricles of these 5 fetuses and they were diagnosed as fetal tuberous sclerosis(TSC).(3)Seven fetuses were born,and the follow-up results of them within 6 months after birth showed that 2 cases were diagnosed as simple CR by MRI,and 5 cases were diagnosed as CR combined with TSC by CT and MRI.During the follow-up to 6 months after birth,the hyperechoic mass in the heart ventricles of those 7 infants did not regress,but the mass did not lead to cardiac inflow or outflow obstruction,and only 1 case occurred supraventricular tachycardia.Conclusions Echocardiography can provide an important basis for the prenatal diagnosis,consultation and prognosis evaluation of CR fetus,and has important clinical values.Because the sample size of this study is relatively small and this study is just a retrospective and descriptive study,the clinical values of echocardiography in the diagnosis of fetal CR remains to be confirmed by large-sample,multi-center,prospective studies.
引文
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[12]刘晓伟,谷孝艳,郝晓艳,等.超声联合遗传学检查在胎儿心脏横纹肌瘤中的临床应用[J].中华妇产科杂志,2016,51(6):415-419.
[13] Kwiatkowska J,Wadoch A,Meyer-Szary J,et al.Cardiac tumors in children:a 20-year review of clinical presentation,diagnostics and treatment[J].Adv Clin Exp Med,2017,26(2):319-326.
[14]赖秋荣.产前系统超声诊断胎儿心脏横纹肌瘤的临床分析[J/CD].中华妇幼临床医学杂志(电子版),2014,10(3):100-101.
[15] Barnes BT,Procaccini D,Crino J,et al.Maternal sirolimus therapy for fetal cardiac rhabdomyomas[J].N Engl J Med,2018,378(19):1844-1845.
[2] DiMario FJ Jr,Sahin M,Ebrahimi-Fakhari D.Tuberous sclerosis complex[J].Pediatr Clin North Am,2015,62(3):633-648.
[3] International Society of Ultrasound in Obstetrics and Gynecology,Carvalho JS,Allan LD,et al.ISUOG Practice Guidelines(updated):sonographic screening examination of the fetal heart[J].Ultrasound Obstet Gynecol,2013,41(3):348-359.
[4] Northrup H,Krueger DA,International Tuberous Sclerosis Complex Consensus Group.Tuberous sclerosis complex diagnostic criteria update:recommendations of the 2012 international tuberous sclerosis complex consensus conference[J].Pediatr Neurol,2013,49(4):243-254.
[5] Bejiqi R,Retkoceri R,Bejiqi H.Prenatally diagnosis and outcome of fetuses with cardiac rhabdomyoma-single centre experience[J].Open Access Maced J Med Sci,2017,5(2):193-196.
[6] Jurko T,Jurko A Jr,Krsiakova J,et al.Prenatal diagnosis of cardiac rhabdomyoma associated with tuberous sclerosis:report of3cases[J].Neuro Endocrinol Lett,2015,36(6):521-523.
[7] Gu X,Han L,Chen J,et al.Antenatal screening and diagnosis of tuberous sclerosis complex by fetal echocardiography and targeted genomic sequencing[J].Medicine(Baltimore),2018,97(15):e0112.
[8] Zungsontiporn N,Tantrachoti P,Puwanant S.Foetal and maternal cardiac rhabdomyomas associated with tuberous sclerosis[J].Eur Heart J,2016,37(26):2036.
[9] Sciacca P,Giacchi V,Mattia C,et al.Rhabdomyomas and tuberous sclerosis complex:our experience in 33cases[J].BMC Cardiovasc Disord,2014,14:66.
[10] Portocarrero LKL,Quental KN,Samorano LP,et al.Tuberous sclerosis complex:review based on new diagnostic criteria[J].An Bras Dermatol,2018,93(3):323-331.
[11]栾姝蓉,任美杰,张涵,等.胎儿心脏横纹肌瘤的超声诊断及直系亲属临床特征分析[J].心肺血管病杂志,2016,35(8):632-635.
[12]刘晓伟,谷孝艳,郝晓艳,等.超声联合遗传学检查在胎儿心脏横纹肌瘤中的临床应用[J].中华妇产科杂志,2016,51(6):415-419.
[13] Kwiatkowska J,Wadoch A,Meyer-Szary J,et al.Cardiac tumors in children:a 20-year review of clinical presentation,diagnostics and treatment[J].Adv Clin Exp Med,2017,26(2):319-326.
[14]赖秋荣.产前系统超声诊断胎儿心脏横纹肌瘤的临床分析[J/CD].中华妇幼临床医学杂志(电子版),2014,10(3):100-101.
[15] Barnes BT,Procaccini D,Crino J,et al.Maternal sirolimus therapy for fetal cardiac rhabdomyomas[J].N Engl J Med,2018,378(19):1844-1845.