胎儿心脏异常钙化病因及超声特征

目的 探讨胎儿心脏异常钙化的病因及超声特征。方法 回顾性分析12胎心脏异常钙化胎儿的超声及病理学资料,分析其妊娠结局、病因及超声表现。结果 12胎中,母体抗SSA/SSB抗体（+）胎儿8胎,超声表现为心房壁、房间隔、房室瓣环等处广泛性增厚、回声增强;心肌营养不良性钙化3胎,超声表现为心室壁内局限性或广泛性高回声;特发性婴儿动脉钙化1胎,超声表现为主肺动脉和主动脉系统广泛性管壁增厚、回声增强、管腔狭窄。妊娠结局：1胎营养不良性心肌钙化病例继续妊娠中,1胎母体抗SSA/SSB（+）胎儿出生,10胎终止妊娠。结论 胎儿心脏异常钙化病因与母体抗SSA/SSB抗体（+）有关,不同病因所致超声表现有所差异。     

胎儿心脏肿瘤与结节性硬化症的关系

目的 探讨胎儿心脏肿瘤与结节性硬化症的关系。方法 回顾性分析产前超声发现胎儿心脏肿瘤的13胎超声及MRI资料。结果 13胎心脏肿瘤中,5胎为单发肿瘤,8胎为多发肿瘤;MRI发现颅内结节性硬化6胎,其中2胎心脏肿瘤为单发、4胎心脏肿瘤为多发。结论 胎儿心脏肿瘤多与结节性硬化症有关。产前超声发现胎儿心脏肿瘤时,应行产前颅脑MR检查,以早期诊断结节性硬化症。     

超声心动图诊断胎儿右位主动脉弓及预后评估

目的探讨超声心动图诊断胎儿右位主动脉弓(RAA)及其在预后评估中的应用价值.方法 回顾性分析经超声心动图诊断为胎儿RAA的25名单胎孕妇资料.7胎引产终止妊娠,对其中4胎进行胎儿尸体检查.对18胎继续妊娠者,于产后1个月内对患儿行超声心动图、MR或 CT检查,并临床随访半年,观察患儿有无反复发作的气管或食管受压症状.结果 19胎为RAA伴左位动脉导管、迷走左锁骨下动脉,4胎为RAA伴头臂动脉镜像分支(3胎伴右位动脉导管、1胎伴左位动脉导管),2胎为双主动脉弓.18胎为单纯性RAA,余7胎合并其他心内外畸形,且包括2胎染色体异常.4胎经尸体检查证实为RAA.18胎出生后经超声心动图、MR或CT检查证实为RAA患儿,且出生后半年内15例患儿无明显气管或食管受压症状,3例出现反复发作的慢性咳嗽、气喘,吞咽困难,经抗感染治疗后症状缓解.结论 超声心动图是诊断胎儿RAA的可靠方法;胎儿RAA的预后主要与是否并发其他心内外畸形或染色体异常有关.     

孕早期经腹部超声筛查胎儿先天性心脏病

目的 探讨胎儿颈项透明层(NT)检测期间(孕11~13⁺⁶周)经腹部超声筛查胎儿先天性心脏病的可行性。 方法 于胎儿NT检测期间对200胎单胎妊娠胎儿行超声扫查,主要切面包括四腔心切面、左心室流出道切面、右心室流出道切面和三血管切面;根据头臀长(CRL)将该胎儿分为2组,A组CRL为45~60 mm,B组为61~84 mm,比较两组胎儿心脏的成功检查率。对200胎均于孕中期(18~24周)行常规胎儿超声检查,出生后行新生儿超声心动图检查。 结果 200胎平均CRL为(66.00±4.60) mm。A组88胎中,23胎(23/88,26.14%)胎儿心脏获得成功检查,B组112胎中,85胎(85/112,75.89%)获得成功检查,两组差异有统计学意义(P<0.05)。 结论 孕早期经腹部超声筛查胎儿先天性心脏病是可行的,有望将某些心脏畸形的检出时间提前4~8周。胎儿CRL>60 mm时,胎儿心脏成功检查率明显提高。     

心脏三节段法诊断胎儿圆锥动脉干畸形

目的 探讨应用心脏三节段法超声心动图诊断胎儿圆锥动脉干畸形的价值。方法 应用心脏三节段法对胎儿进行筛查,检出或疑似圆锥动脉干畸形胎儿167胎,对其超声心动图资料进行分析。结果 167胎圆锥动脉干畸形,包括法洛四联症40胎,大动脉转位25胎,右心室双出口36胎,永存动脉干66胎。其中84胎经产后病理证实,13胎经产后超声心动图确诊,11胎产前超声诊断结果与产后病理结果不符,59胎失访。结论 心脏三节段法是产前诊断胎儿圆锥动脉干畸形的可靠方法,具有较好的临床应用价值。     

胎儿尸体MR检查替代胎儿尸体检查的可行性

目的 探讨胎儿尸体MR检查替代胎儿尸体检查的可行性。方法 对产前超声诊断胎儿畸形、并终止妊娠后的33胎行MR检查,与尸体解剖对照,分析比较产前超声结果、胎儿尸体MRI与尸体检查结果。结果 33胎中尸体检查共检出胎儿畸形42处。产前超声诊断符合率88.10%(37/42),胎儿尸体MRI诊断符合率92.86%(39/42)。 4胎心脏异常中,仅有2胎MRI结果与尸体检查符合。除外心脏结构畸形,胎儿尸体MR检查与尸体检查结果符合率为97.37%(37/38)。结论 在患者家属拒绝胎儿尸体检查时,胎儿尸体MR检查有望成为一个较好的、可被家属接受的替代选择。     

产前超声诊断胎儿冠状动脉代偿性扩张

目的 探讨产前超声诊断胎儿冠状动脉代偿性扩张（CACD）的临床价值。方法 回顾性分析经出生后超声心动图检查或引产后尸检证实的17胎CACD胎儿，观察其产前超声声像图特征，随访妊娠结局。结果 17胎CACD左右CA均受累，15胎于晚孕期、2胎于中孕期获得诊断，均伴不同程度血流动力学异常；其中10胎存在不同程度水肿，7胎伴Galen静脉瘤；8胎生长发育受限；8胎伴结构畸形。17胎中，8胎引产，3胎胎死宫内；6胎经紧急剖宫产出生，其中2例早产儿于出生1周内夭折，4名为健康足月儿。结论 产前超声可诊断胎儿CACD，并及时预警胎儿宫内缺氧。     

超声心动图诊断胎儿心肌病

目的 探讨胎儿超声心动图诊断胎儿心肌病(FCM)及其并发症的价值.方法 对11 360胎胎儿进行超声心动图检查;对其中诊断为胎儿心肌病或可疑心肌原发病变者进行分析,并与大体病理结果及出生后超声心动图表现进行对照分析.结果 11 360胎中检出FCM 19胎,检出率为0.167%(19/11 360).其中扩张型心肌病10胎(累及双心室4胎、右心室4胎、左心室1胎、右心房1胎)、肥厚型心肌病2胎(累及双心室1胎,室间隔1胎)、心内膜弹力纤维增生症4胎(原发型1胎、继发型3胎)、心肌致密化不全3胎(累及双心室2胎、右心室1胎),FCM累及心室中以双心室为著.结论 胎儿超声心动图可对FCM做出诊断及分型,且可评估胎儿心脏功能及血流动力学的变化,并判断FCM的预后.     

早、中孕联合超声筛查诊断胎儿异常

目的 评估早、中孕联合超声筛查诊断胎儿异常的临床价值。方法 对2844名孕11~13⁺⁶周的孕妇(共3135胎)行孕早期超声筛查,测量颈项透明层厚度(NT),重点观察胎儿颅脑横切面,多切面观察胎儿主要脏器及形态结构。对继续妊娠的2865胎,在孕18~24周行孕中期胎儿结构筛查;孕32周超声监测胎儿生长发育。对所有新生儿进行随访。结果 孕早期超声筛查在3135胎中检出153胎(153/3135,4.88%)异常,包括NT增厚20胎、胎儿水肿25胎、胎死宫内75胎、露脑畸形9胎、脐疝2胎、巨膀胱2胎、肢体发育异常2胎、多发畸形5胎、联体双胎1胎、单脐动脉12胎。孕中期超声筛查在2865胎中检出66胎(66/2865,2.30%)异常,包括胎儿水肿6胎、中枢神经系统异常13胎、颜面部畸形3胎、心脏异常11胎、膈疝1胎、脐疝2胎、肢体异常1胎、泌尿系统异常9胎、多发畸形1胎、胎儿生长受限5胎、脐带异常14胎。结论 孕早期超声筛查能早期检出部分严重、早发的胎儿异常,但不能替代孕中期超声筛查。     

超声心动图诊断胎儿完全型肺静脉异位引流

目的 探讨胎儿完全型肺静脉异位引流(TAPVC)产前诊断线索及超声心动图特征.方法 回顾性分析于我院经超声诊断并经尸体检查或出生后超声心动图证实的14胎TAPVC胎儿的二维及多普勒图像的特征.结果 产前诊断12胎TAPVC,其中心上型9胎,心内型2胎,心下型1胎.TAPVC的产前诊断线索及超声心动图特征:二维超声四腔心切面未显示肺静脉角,左心房后壁光滑;左心房后壁与降主动脉间距离增大;可见共同肺静脉腔和垂直静脉.产前超声心动图漏诊2胎,经出生后超声心动图证实均为心内型TAPVC.14胎TAPVC中,4胎伴肺静脉引流途径梗阻.结论 胎儿超声心动图可诊断TAPVC并准确分型;脉冲和彩色多普勒超声可显示肺静脉回流途径梗阻.     

Echocardiographic evaluation of cardiac rhabdomyoma in infants and children

PURPOSE: The objective of this study was to demonstrate the clinical presentation, echocardiographic findings, and morbidity and mortality rates for cardiac rhabdomyoma in Chinese infants and children by using echocardiography. METHODS: Two-dimensional echocardiography was performed at our institution from 1992 through 1999 on 12,800 children under 15 years of age. The diagnoses of cardiac rhabdomyoma were made primarily by echocardiography based on the presence of multiple tumors, cardiac tumors associated with tuberous sclerosis (TS), or histopathologic examination of surgical specimens. All patients were evaluated with 2-dimensional and Doppler echocardiography and then on follow-up examination every 3-6 months. Complete tumor regression was defined as no tumor visible by echocardiography. Partial tumor regression was defined as a decrease in tumor size of at least 15% from the previously measured size. RESULTS: A total of 29 tumors were found in 11 patients, 8 of whom had either TS or a family history of TS in 1 or more first-degree relatives. There were 9 boys and 2 girls 1 day-6.5 years old; (mean, 1.1 years). Three patients (newborns with heart failure) died, 2 after emergency surgery and 1 of intractable heart failure. The remaining 8 patients were managed conservatively and monitored for a mean duration of 3.3 years. Follow-up studies revealed that, of the 22 tumors in these 8 patients, 7 completely regressed, 7 partially regressed, and 8 remained stable. Our results showed no relationship between the tumor location and the regression rate (p = 0.34). CONCLUSIONS: Cardiac rhabdomyoma often presents in TS patients with no major arrhythmia or hemodynamic obstruction. However, in symptomatic neonates with or without TS, cardiac rhabdomyoma is usually fatal. Meticulous prenatal screening and routine echocardiographic examinations of patients with TS can reveal subclinical or clinically occult cardiac rhabdomyomas.     

原发性心脏肿瘤的超声诊断价值及误漏诊分析

目的 评价超声心动图对原发性心脏肿瘤的诊断价值,并结合文献探讨原发性良、恶性以及肿瘤的超声特点,以及其诊断诊断心脏肿瘤误漏诊的原因。方法 对３５例经手术,尸解、电子计算机Ｘ线体层扫描（ＣＴ）、磁共振显像（ＭＲＩ）及病理结果证实的原发性心脏肿瘤患者的超声心动图资料进行分析。结果 通过超声首先发现和诊断心脏肿瘤者占９１．４３％（３２／３５）。患者首次通过超声检查诊断心脏肿瘤的准确率和误漏诊率分别为７１     

心脏原发良性肿瘤的临床分析及超声诊断价值

目的　评价黏液瘤以外的心脏原发良性肿瘤的临床特点、手术所见、病理学类型以及治疗情 况;评价超声心动图诊断黏液瘤以外的心脏原发良性肿瘤的准确性。方法　手术和病理证实为心脏良性 肿瘤患者26例。回顾性分析临床及术前超声心动图检查资料。结果　26例患者中,46.15%(12例)肿瘤 位于左心,38.46%(10例)位于右心,3.85%(1例)位于双心室,11.54%(3例)位于心包。26例中,脂肪瘤 6例(23.08%),淋巴管瘤5例(19.23%),纤维瘤4例(15.38%),横纹肌瘤4例(15.38%),平滑肌瘤2例 (7.69%),海绵状血管瘤2例(7.69%),嗜铬细胞瘤1例(3.85%),淋巴管囊肿1例(3.85%),心外膜囊肿 1例(3.85%)。4例横纹肌瘤均位于右心室,5例淋巴管瘤均位于左心室。横纹肌瘤与脂肪瘤、淋巴管瘤、 血管瘤及平滑肌瘤之间发病年龄差别具有显著性意义(P<0.01)。26例中,术前超声诊断心脏占位病变 性质待定22例(84.62%),诊断黏液瘤可能性大4例(15.38%)。结论　心脏良性肿瘤多位于左心,其次右 心,少数位于心包。不同类型心脏良性肿瘤可发生于不同年龄段。     

Prenatal echocardiographic differential diagnosis of fetal cardiac tumors.

OBJECTIVES: To present data on echocardiographic findings of fetal cardiac tumors and discuss their differential diagnoses. METHODS: We retrospectively reviewed 14 cases of fetal echogenic cardiac mass diagnosed between 1990 and 2003; 12 were confirmed to be cardiac tumors and two were false-positive diagnoses. The echocardiographic characteristics examined included number, size, location and associated complications. RESULTS: Eight fetuses had a single tumor and four fetuses had multiple tumors. The left ventricle was most often affected. Parents of eight fetuses opted for termination of pregnancy, one fetus died in utero and three affected fetuses survived. Histopathological examination revealed cardiac rhabdomyoma in six fetuses, fibroma in two, teratoma in two, lipoma in one and hemangioma in one. The pitfalls associated with prenatal echocardiographic diagnosis of cardiac tumors include: they may be too small to be visualized, intracardiac echogenic foci may mimic tumors, and echogenicity resulting from extracardiac structures or neoplasms near the heart may falsely appear as tumors. CONCLUSION: Fetal cardiac tumors can be detected by echocardiography. However, differential diagnosis is important as this will affect prognosis and subsequent management.     

Characterization of a Phenotype-Based Genetic Test Prediction Score for Unrelated Patients With Hypertrophic Cardiomyopathy

ObjectivesTo determine the prevalence and spectrum of mutations and genotype-phenotype relationships in the largest hypertrophic cardiomyopathy (HCM) cohort to date and to provide an easy, clinically applicable phenotype-derived score that provides a pretest probability for a positive HCM genetic test result.Patients and MethodsBetween April 1, 1997, and February 1, 2007, 1053 unrelated patients with the clinical diagnosis of HCM (60% male; mean ± SD age at diagnosis, 44.4±19 years) had HCM genetic testing for the 9 HCM-associated myofilament genes. Phenotyping was performed by review of electronic medical records.ResultsOverall, 359 patients (34%) were genotype positive for a putative HCM-associated mutation in 1 or more HCM-associated genes. Univariate and multivariate analyses identified the echocardiographic reverse curve morphological subtype, an age at diagnosis younger than 45 years, a maximum left ventricular wall thickness of 20 mm or greater, a family history of HCM, and a family history of sudden cardiac death as positive predictors of positive genetic test results, whereas hypertension was a negative predictor. A score, based on the number of predictors of a positive genetic test result, predicted a positive genetic test result ranging from 6% when only hypertension was present to 80% when all 5 positive predictor markers were present.ConclusionIn this largest HCM cohort published to date, the overall yield of genetic testing was 34%. Although all the patients were diagnosed clinically as having HCM, the presence or absence of 6 simple clinical/echocardiographic markers predicted the likelihood of mutation-positive HCM. Phenotype-guided genetic testing using the Mayo HCM Genotype Predictor score provides an easy tool for an effective genetic counseling session.     

胎儿超声心动图诊断卵圆孔血流受限或提前闭合及转归分析

目的探讨胎儿超声心动图对诊断孕中晚期胎儿卵圆孔(FO)血流受限或提前闭合(R/C)和判断预后的价值。方法 1000名孕妇接受产前检查,经超声心动图诊断6胎为孕中晚期FO R/C,对其进行危险评估。对引产及出生后死亡胎儿行大体解剖、病理检查,出生后存活胎儿行超声随访。结果产前超声心动图明确诊断6胎FO R/C,孕早期畸形筛查心脏均未见异常。胎儿超声心动图显示4胎不伴有心外畸形及浆膜腔积液,生后1个月左右复查经胸超声心动图,心脏比例恢复正常。2胎合并心包积液或腹腔积液,1胎终止妊娠,另1胎出生1天后死亡,尸检大体标本均显示FO近闭合,伴有胸腹腔积液或心包积液。结论一旦孕中晚期超声心动图发现胎儿FO R/C,如未合并其他心内或心外畸形及浆膜腔积液提示胎儿预后良好,应尽早提前分娩;如伴大量心包积液、腹腔积液或其他心脏畸形,提示预后不佳。     

Early diagnosis of a newborn with tuberous sclerosis caused by a genetic mutation

ObjectiveTuberous sclerosis (TSC) is an autosomal dominant disorder, often detected during childhood. We present the results of genetic testing in a newborn with suspected TSC.MethodsA newborn with no specific clinical manifestations of TSC showed evidence of TSC on magnetic resonance imaging and echocardiography. Next-generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) of the TSC1 and TSC2 gene exons were carried out to confirm the diagnosis.ResultsThe results of MLPA were negative, but NGS showed a heterozygous mutation in the TSC1 gene comprising insertion of a T residue at c.2165 (exon 17) to c.2166 (exon 17), indicating a loss of function mutation. These results were verified by Sanger sequencing. This genetic change was present in the newborn but the parental genotypes were wild-type, indicating a de novo mutation.ConclusionsIn this case, a case of TSC caused by a heterozygous mutation in the TSC1 gene was confirmed by NGS sequencing. This indicates the suitability of genetic testing for the early diagnosis of clinically rare and difficult-to-diagnose diseases, to guide clinical treatment.     

超声心动图诊断胎儿完全性大动脉转位

目的 探讨胎儿完全性大动脉转位（TGA）的超声心动图特征。方法 回顾性分析2010年1月—2017年1月经引产后尸体解剖证实或经出生后超声心动图检查证实为TGA的9胎胎儿的产前超声资料。结果 9胎TGA胎儿四腔心切面均显示正常的心轴及房室连接关系;左心室流出道切面8胎出现"雏鸟喙"征;左右心室流出道切面8胎2条大动脉（主动脉、肺动脉）呈平行关系;三血管气管（3VT）切面6胎仅显示2条大血管;主动脉弓切面7胎显示主动脉弓弧度不同程度增大。四腔心切面及左心室流出道切面均可见4胎室间隔上段缺损。结论 TGA胎儿超声心动图左心室流出道切面、左右心室流出道切面、3VT切面及主动脉弓切面均具有特征性表现,包括"雏鸟喙"征、2条大动脉呈平行关系、3VT切面仅显示2条大血管、主动脉弓弧度增大,其中以"雏鸟喙"征最为常见。