产前超声对胎儿胸腺-胸廓比与圆锥动脉干畸形的关系探讨

目的 ：通过产前超声探讨胎儿胸腺-胸廓（Thymic-thoracic,TT）比与圆锥动脉干畸形的关系。方法 ：回顾性分析2019年1月—2020年12月期间249例单胎妊娠16～28周的孕妇，进行病例对照研究，通过产前超声测量圆锥动脉干畸形、非圆锥动脉干畸形以及对照组的TT比。对照组是由在产检时经超声评估无心脏及其他结构异常的正常胎儿组成。使用平均值、标准差描述连续变量，应用t检验，进行组间多重比较，绘制正常对照组TT比随胎龄变化的散点图，并利用Pearson相关性分析评估胎龄和TT比之间的可能关系，P<0.05被认为具有统计学意义。结果：圆锥动脉干畸形的TT比较对照组显著降低（0.30±0.03,P<0.001），非圆锥动脉干畸形的TT比较对照组降低不明显（0.43±0.04,P>0.05）。结论：与正常胎儿和非圆锥动脉干畸形相比，圆锥动脉干畸形的TT比显著降低。     

圆锥动脉干畸形的产前超声诊断分析

目的 探讨圆锥动脉干畸形的产前诊断特征、超声诊断思路及有效扫查切面,以提高其产前检出率.方法 回顾我院2005年7月至2008年7月间59例胎儿圆锥动脉干畸形的超声资料,分析各类圆锥动脉干畸形的圆锥形态及声像学特点.结果 产前诊断59例圆锥动脉干畸形,其中包括法洛四联症18例,完全性大动脉转位6例,右室双出口27例,肺动脉闭锁/室间隔缺损、永存动脉干8例.结论 不同类型的圆锥动脉干畸形有不同的圆锥结构,二维超声心动图可直接评价圆锥动脉干畸形病理形态学特征,认识和判断这些圆锥结构对圆锥动脉干畸形的诊断和鉴别诊断具有重要的临床意义.     

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。     

肺气肿患者的升主动脉根部二维超声心动图研究

目的 :了解肺气肿患者的升主动脉根部变化 ,及其与主动脉扩张的危险因素的关系。方法 :利用二维超声技术研究了 5 8例严重肺气肿患者 ,测量其升主动脉的瓣环、瓦氏窦、窦与升主动脉连接处及升主动脉的近端的直径。测量结果与年龄、性别相匹配的无肺气肿及正常人员的正常值进行比较 ,并分析升主动脉根部和心源性危险因素 (高血压、高胆固醇血症及糖尿病 )的关系。结果 :显示肺气肿患者升主动脉根部内径测量值显著大于正常对照组 (P<0 .0 0 0 1)以及无肺气肿患者组 (P<0 .0 5～ 0 .0 0 0 1) ,肺气肿患者的瓦氏窦扩张发生百分率 4 3% ,升主动脉扩张发生百分率 5 9%。多因素线性回归分析表明肺气肿是升主动脉根部扩张四个测量点的主要决定因素。高血压与升主动脉瓦氏窦、窦与升主动脉连接处、近端升主动脉的进一步扩张有关。结论 :肺气肿患者升主动脉根部显著扩张大于无肺气肿患者 ,高血压与近端升主动脉 ,窦与升主动脉联接处及瓦氏窦进一步扩张有关     

圆锥动脉干畸形的分子遗传学研究进展

先天性心脏病是最常见的儿童先天性畸形之一,我国活产儿中患病率是3‰～8‰[1]。而其中圆锥动脉干畸形(conotruncal malformation)占先天性心脏病的1/4～1/3,约占青紫型先天性心脏病的70%[2]。圆锥动脉干畸形造成的先天性心脏病由于病情相对较重,预后相对较差,长期以来一直受到人们的关注。圆锥动脉干发育异常造成的畸形主要包括:法洛四联症、大动脉转位、右心室双出口、肺动脉闭锁以及永存动脉干。随着外科手     

肺动脉异常起源于升主动脉的病理分型及胚胎发生机制探讨

目的肺动脉异常起源升主动脉的病理分型及胚胎发生机制探讨.方法 5例肺动脉异常起源于升主动脉,作心血管造影(ACG)及磁共振(MRI)检查.结果 5例病例中3例为右肺动脉异常起源于升主动脉;2例为左肺动脉异常起源于升主动脉,4例属近端型,1例远端型.结论肺动脉异常起源于升主动脉为少见的先天性心脏病,病理分型有二种,一种右肺动脉异常起源于升主动脉,占肺动脉异常起源升主动脉的绝大部分;另一种为左肺动脉异常起源升主动脉,此种类型少见,又可根据肺动脉起源离主动脉瓣及无名动脉的距离分近端型及远端型二种亚型.二种类型的胚胎发生学的解释不尽相同.肺动脉异常起源于升主动脉以前称为半永存动脉干,从胚胎角度讲与永存动脉干不同,故目前不提倡用半永存动脉干这个术语.     

新生儿完全性大动脉错位矫治术的围术期护理

完全性大动脉错位（TGA）是一种严重的先天性心脏复杂畸形,发病率占先天性心脏病的7%～8%。其定义为一种心房与心室连接一致和心室与大动脉连接不一致的圆锥动脉干畸形。主动脉起源于右心室,肺动脉则从左心室发出。     

肺动脉异常起源于升主动脉的病理分型

目的 肺动脉异常起源升主动脉的病理分型及胚胎发生机制探讨。方法 5例肺动脉异常起源于升主动脉，作心血管造影（ACG)及磁共振(MRI)检查。结果 5例病例中3例为右肺动脉异常起源于升主动脉；2例为左肺动脉异常起源于升主动脉，4例属近端型，1例远端型。结论 肺动脉异常起源于升主动脉为少见的先天性心脏病，病理分型有二种，一种右肺动脉异常起源于升主动脉，占肺动脉异常起源升主动脉的绝大部分；另一种为左肺动脉异常起源升主动脉，此种类型少见，又可根据肺动脉起源离主动脉瓣及无名动脉的距离分近端型及远端型二种亚型。二种类型的胚胎发生学的解释不尽相同。肺动脉异常起源于升主动脉以前称为半永存动脉干，从胚胎角度讲与永存动脉干不同，故目前不提倡用半永存动脉干这个术语。     

超声心动图诊断单纯右肺动脉异常起源于升主动脉

目的 探讨单纯右肺动脉异常起源于升主动脉的超声心动图诊断价值.方法 回顾性分析5例单纯右肺动脉异常起源于升主动脉患者的超声心动图特征.结果 5例右肺动脉均起源于升主动脉近端左后壁,除合并动脉导管未闭外,无其他心内畸形;均存在重度肺动脉高压.3例手术,1例术前漏诊动脉导管未闭,1例院外多次彩色超声漏诊右肺动脉异常起源或误诊为大动脉转位.结论 单纯右肺动脉异常起源于升主动脉在解剖、血流动力学上有许多相似之处,把握共性并多部位、多切面探测有助于超声心动图作出准确诊断并减少漏、误诊.     

超声心动图诊断单纯右肺动脉异常起源于升主动脉

目的 探讨单纯右肺动脉异常起源于升主动脉的超声心动图诊断价值.方法 回顾性分析5例单纯右肺动脉异常起源于升主动脉患者的超声心动图特征.结果 5例右肺动脉均起源于升主动脉近端左后壁,除合并动脉导管未闭外,无其他心内畸形;均存在重度肺动脉高压.3例手术,1例术前漏诊动脉导管未闭,1例院外多次彩色超声漏诊右肺动脉异常起源或误诊为大动脉转位.结论 单纯右肺动脉异常起源于升主动脉在解剖、血流动力学上有许多相似之处,把握共性并多部位、多切面探测有助于超声心动图作出准确诊断并减少漏、误诊.     

Magnetic resonance imaging evaluation of congenital heart disease: conotruncal anomalies.

Conotruncal anomalies comprise a diverse group of congenital heart defects involving the outflow tracts of the heart and the great vessels, including tetralogy of Fallot, transposition of the great arteries, truncus arteriosus, interrupted aortic arch, and other anomalies. Cardiovascular magnetic resonance (CMR) imaging plays an increasingly important role in the evaluation of patients with these lesions. Advances in CMR allow comprehensive assessment of cardiovascular anatomy, ventricular function, flow, and myocardial perfusion and viability. This article reviews the clinical aspects and the application of CMR before and after surgery in key conotruncal anomalies.     

Aortic dissection and turner’s syndrome: case report and review of the literature

Cardiovascular abnormalities are frequently encountered in patients with Turner’s syndrome. These include coarctation of the aorta, aortic root dilatation, bicuspid aortic valve, atrial and ventricular septal defects. Aortic dissection is a rare but devastating complication of Turner’s syndrome that usually occurs in adulthood. We report a case of Turner’s syndrome with coarctation of the aorta and chronic aortic dissection, and review the relevant literature. There have been 21 prior reported cases of aortic dissection in patients with Turner’s syndrome. Possible etiologic factors contributing to the occurrence of aortic dissection in this syndrome are protean. They include the presence of cystic medial necrosis, coarctation of the aorta, bicuspid aortic valve, aortic root dilatation, and hypertension, although cases of aortic dissection and Turner’s syndrome have been described in patients without any risk factors. As our knowledge of the natural history of congenital heart defects and risk factors for aortic dissection in Turner’s syndrome is limited, periodic cardiac evaluation of these patients may be warranted. Early recognition and treatment of this potentially lethal complication of Turner’s syndrome is essential.     

Molecular characterization of chromosome 22 deletions by short tandem repeat polymorphism (STRP) in patients with conotruncal heart defects.

The haploinsufficiency of chromosome 22q11.2 can cause both DiGeorge and velocardiofacial syndromes, both of which are characterized by conotruncal heart defects as well as a wide range of other extracardiac anomalies. Several studies have demonstrated that approximately 10-20% of patients with conotruncal heart defects have a 22q11.2 deletion. In clinical laboratories, the deletion is usually detected by fluorescent in situ hybridization (FISH). We set up a polymerase chain reaction-based non-radioactive method for molecular analysis of the 22q11.2 region in conotruncal cardiac patients with conotruncal defects. Sixty-four children with conotruncal defects and their parents were genotyped by polymerase chain reaction, using fifteen polymorphic markers. We identified nine deletions (confirmed by FISH): eight were "de novo" and one familial, maternally inherited. Six deletions were of paternal and three of maternal origin. There were seven deletions of 3 Mb and the other two were of 1.5 Mb. This method is a cost-effective means of characterizing the 22q11.2 region and it can be applied for a rapid screening of 22q11.2 deletion in patients at risk. In agreement with previously published data, we found no correlation between the sizes and the parental origin of deletions and cardiac or extra-cardiac phenotypes.     

Aortic root asymmetry in Marfan patients; evaluation by magnetic resonance imaging and comparison with standard echocardiography

Background: Patients with Marfan syndrome may develop aortic root dissection despite only mild aortic root dilation as shown by standard echocardiography, which may be due to aortic root asymmetry. Purpose of the present study was to investigate aortic root asymmetry by magnetic resonance (MR) imaging in patients with Marfan syndrome and to compare these measurements with standardly performed echocardiography. Methods: Eighty-seven Marfan patients (mean age 31 ± 8 years) underwent MR imaging. From this population, 15 patients (mean age 29 ± 3 years) were selected in whom both echocardiography and MR imaging had been performed within 3 months. With echocardiography, the aortic root was measured according to the recommendations of the American Society of Echocardiography. With MR imaging, a short axis view of the aortic root was obtained to measure distances between the noncoronary, right coronary and left coronary cusps and the aortic root area. Correlations between aortic root area and diameters were assessed, and 95% confidence intervals (95% CIs) calculated. Results: No difference in the standardly measured noncoronary to right coronary cusp diameter between MR imaging and echocardiography was shown (42 ± 6 mm). Largest aortic root diameter on the MR images was the right to left coronary cusp diameter (46 ± 7 mm, p < 0.02). For a given noncoronary to right coronary cusp diameter, 95% confidence intervals revealed a variation of ?20 to +20% in the aortic root area. Conclusions: The majority of Marfan patients show asymmetric dilation of the aortic root by MR imaging. This phenomenon may go unnoticed when standard echocardiography is performed. The asymmetry of the aortic root might be of clinical importance in unexpected aortic root dissection.     

胎儿心脏连续扫查方法在产前诊断圆锥干畸形中的意义

目的探讨胎儿心脏连续扫查方法在产前诊断圆锥干畸形中的价值。方法根据胎儿的不同体位，应用超声对1067例孕18-26周的高危胎儿进行横向、矢状或冠状连续心脏扫查，扫查过程中将主、肺动脉排列次序或内径的改变、交叉结构的消失或不显示作为圆锥干畸形存在的特征性改变，同时对有上述特征性改变的胎儿作进一步的超声心动图检查以明确诊断。结果1067例胎儿失访17例，余1050胎儿中有上述特征性改变的胎儿33例，进一步详细行超声心动图检查后产前诊断圆锥干畸形21例，其中法洛四联症9例，大动脉转位9例，共同动脉干2例，右室双出口1例；生后超声或尸检证实产前漏诊法洛四联症1例，大动脉转位1例，右室双出口误诊为法洛四联症1例。胎儿心脏连续扫查方法在产前诊断圆锥干畸形的敏感性、特异性、阳性预测值和阴性预测值分别为91．3％、98．8％、63．6％和99．8％，产前诊断准确率为87．0％。结论胎儿心脏连续扫查过程中主、肺动脉排列次序或内径改变、交叉结构的消失或不显示对预测胎儿圆锥干畸形有较高的敏感性和特异性，结合不同类型圆锥干畸形的病理解剖特征进一步作超声心动图检查可提高圆锥干畸形的产前诊断率。     

Secondary prolapse of heart valves

Secondary valve prolapse emerges in a variety of heart diseases: coronary heart disease, dilated and hypertrophic cardiomyopathies, acquired valvular heart disease, infectious endocarditis, pulmonary hypertension, etc. Valve prolapse results from dilation of valvular fibrous rings, dysfunction of papillary muscles, mitral lesions in valvulitides. Secondary valve prolapse in dilatation of valvular opening entails manifest disorders of systemic and intracardiac hemodynamics except for cases of aortic root dilatation. In decreased valvular opening secondary valve prolapse is not associated with considerable shifts in hemodynamics. Secondary valve prolapse suggests primary structural and functional defects in the heart rather than promotes the development of circulatory insufficiency.     

Prenatal Diagnosis of the Fetal Retroesophageal Left Brachiocephalic Vein: Case Series and Review of the Literature

A retroesophageal left brachiocephalic vein (LBCV) is a highly rare anomaly. We retrospectively analyzed 7 cases of a retroesophageal LBCV that were prenatally diagnosed from a database of fetal echocardiogram of 31,356 cases. The 3-vessel view and the long-axis view are the main views for confirming a fetal retroesophageal LBCV. An isolated retroesophageal LBCV is rare, and it is typically associated with congenital heart defects, especially conotruncal defects and a right aortic arch. An isolated fetal retroesophageal LBCV has a good prognosis and does not need surgical treatment.     

Absent or hypoplastic thymus on ultrasound: a marker for deletion 22q11.2 in fetal cardiac defects.

OBJECTIVE: Congenital heart defects (CHD), particularly conotruncal anomalies, may be associated with deletion of chromosome 22q11.2. Thymic aplasia or hypoplasia is known to be a typical feature in this condition. We aimed to establish (i) the prevalence of del22q11.2 in fetal CHD and (ii) whether ultrasound assessment of an absent or hypoplastic fetal thymus helps in preselection of a group who are at high risk for this deletion. STUDY DESIGN: In fetuses (> 16 weeks) with CHD, karyotyping and fluorescence in situ hybridization for 22q11.2 were offered and the fetal thymus was evaluated sonographically. RESULTS: One hundred and forty-nine fetuses with CHD and normal karyotype were analyzed. Seventy-six fetuses had conotruncal anomalies. 22q11.2 deletion was present in 10 cases (6.7%), all of which had conotruncal anomalies (13.1%). Thymic hypoplasia or absence was suspected in 11 cases with conotruncal anomaly. Nine of these 11 had the deletion; two cases were false positive. One fetus with a normal-sized thymus had deletion of 22q11.2 (sensitivity 90%, specificity 98.5%, positive predictive value 81.8%, and negative predictive value 99.2%). By subtype of cardiac anomaly, there was deletion in four of six fetuses with interruption of the aortic arch, two of four with absent pulmonary valve syndrome, three of nine with truncus arteriosus and one of 11 cases of tetralogy of Fallot. Pulmonary atresia with ventricular septal defect (n = 7), right-sided aortic arch (n = 4), transposition of the great arteries (n = 14), double outlet right ventricle (n = 13) and other complex malpositions of the great vessels (n = 8) were not associated with the deletion. CONCLUSION: Thymic hypoplasia or aplasia may reliably be diagnosed during fetal echocardiography. The technique allows identification of a group at high risk for 22q11.2 deletion and is more specific and sensitive than by subtype of cardiac anomaly alone.     

Losartan Added to β-Blockade Therapy for Aortic Root Dilation in Marfan Syndrome: A Randomized,Open-Label Pilot Study

ObjectiveTo assess the tolerability and efficacy of the investigational use of the angiotensin II receptor blocker losartan added to β-blockade (BB) to prevent progressive aortic root dilation in patients with Marfan syndrome (MFS).Patients and MethodsBetween May 1, 2007, and September 31, 2011, 28 patients with MFS (11 males [39%]; mean ± SD age, 13.1±6.3 years) with recognized aortic root dilation (z score >2.0) and receiving BB (atenolol or propranolol) treatment were enrolled. They were randomized to receive BB (BB: 13 patients) or β-blockade and losartan (BB-L: 15 patients) for 35 months.ResultsIn the BB-L group, aortic root dilation was reduced with treatment, and the annual dilation rate of the aortic root was significantly lower than that of the BB group (0.10 mm/yr vs 0.89 mm/yr; P=.02). The absolute aortic diameters at the sinus of Valsalva, annulus, and sinotubular junction showed similar trends, with a reduced rate of dilation in the BB-L group (P=.02, P=.03, and P=.03, respectively). Five patients (33%) treated with BB-L were noted to have a reduced aortic root diameter. However, the differences between the groups regarding changes in aortic stiffness and cross-sectional compliance were not statistically significant.ConclusionThis randomized, open-label, active controlled trial mostly based on a pediatric population demonstrated for the first time that losartan add-on BB therapy is safe and provides more effective protection to slow the progression of aortic root dilation than does BB treatment alone in patients with MFS.Trial Registrationclinicaltrials.gov Identifier: NCT00651235.     

MRI of complex cyanotic congenital heart disease: pre- and post surgical considerations

Evaluation of patients with complex congenital cyanotic heart disease requires a solid knowledge base of the underlying defects and a full understanding of surgical palliative and corrective procedures. As these patients survive into adulthood, understanding common conditions, their associated surgical procedures, and potential surgical complications is paramount for the radiologist. Use of magnetic resonance imaging in evaluation of these patients is a critical tool at the disposal of the radiologist.