Assessment of Intracardiac and Extracardiac Deformities in Patients with Various Types of Pulmonary Atresia by Dual-Source Computed Tomography

Background:Pulmonary atresia(PA)is a group of heterogeneous complex congenital heart disease.Only one study modality might not get a correct diagnosis.This study aims to investigate the diagnostic power of dualsource computed tomography(DSCT)for all intracardiac and extracardiac deformities in patients with PA compared with transthoracic echocardiography(TTE).Materials and Methods:This retrospective study enrolled 79 patients and divided them into three groups according to their main diagnosis.All associated malformations and clinical information,including treatments,were recorded and compared among the three groups.The diagnostic power of DSCT and TTE on all associated malformations were compared.The surgical index(McGoon ratio,pulmonary arterials index(PAI),and total neopulmonary arterial index)and radiation dose were calculated on the basis of DSCT.Results:Of the patients,32,30,and 17 were divided into the groups of PA with ventricular septal defect(VSD),PA with VSD and major aortopulmonary collateral arteries,and PA with other major malformations,respectively.Consequently,182,162,and 13 intracardiac,extracardiac,and other major malformations were diagnosed,respectively.Moreover,DSCT showed a better diagnostic performance in extracardiac deformities(154 vs.117,p<0.001),whereas TTE could diagnose intracardiac deformities better(159 vs.139,p=0.001).The McGoon ratio,PAI,and treatment methods were significantly different among the three groups(p=0.014,p=0.008,and p=0.018,respectively).Conclusion:More than one imaging modality should be used to make a correct diagnosis when clinically suspecting PA.DSCT is superior to TTE in diagnosing extracardiac deformities and could be used to roughly calculate surgical indices to optimize treatment strategy.

Right Sub-Axillary Incision for Right Pulmonary Vein Atresia in a Child:A Case Report and Literature Review

Unilateral pulmonary vein atresia(UPVA)in children is a rare disease that is characterized by a recurrent pulmonary infection and hemoptysis in childhood.This paper is a report of a case of pulmonary venous atresia treated by a right sub-axillary incision.Hopefully,more literature can be produced to improve the awareness and treatment level of pulmonary vein atresia.

Role of Surgery on Growth of Tricuspid Valve in Pulmonary Atresia with Intact Ventricular Septum:Mid-Term Results of Modified Right-Ventricular Overhauling Procedure

Objectives:To access the effectiveness of our modified right-ventricular overhauling procedure on tricuspid valve(TV)growth in patients with pulmonary atresia with intact ventricular septum(PAIVS).Methods:We retrospectively reviewed 21 patients with PAIVS who underwent modified right ventricular overhauling(mRVoh)between 2008 and 2019 at two institutions.Our mRVoh consisted of wide resection of hypertrophied infundibular and trabecular muscle,peeling off fibrotic endocardial tissue in the right ventricle(RV)cavity,surgical pulmonary valvotomy,and Blalock-Taussig shunt or banding of ductus arteriosus under cardiopulmonary bypass.The TV annulus sizes were measured and analyzed using echocardiography before and after mRVoh.Results:No mortalities were observed during a median follow-up of 3 years(interquartile range:1.3–4.7 years)of follow-up were noted.mRVoh was performed at a median age of 163.5 days(range:21–560 days),including seven neonates and two infants(<60 days).During follow-up,the median TV annular z-score increased significantly from−2.24 to−1.15 before and after mRVoh(p=0.004).In ten patients with a prior history of percutaneous interventions for RV outflow tract(RVOT)widening at least 6 months before mRVoh,the TV annular z-score significantly changed during the period after mRVoh(−2.03 to−1.61,p=0.028)compared with the period before mRVoh(−2.51→–2.03,p=0.575)after percutaneous intervention only.Conclusions:mRVoh in PAIVS patients was positively associated with TV annular growth,and it was more effective than percutaneous RVOT widening interventions without mRVoh.

Anatomy in Patients with 22q11 Deletion and Pulmonary Atresia with Ventricular Septal Defect and Major Aortopulmonary Collaterals

We performed a retrospective analysis of patients with and without 22q11 deletion undergoing surgery for pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals between January 2004 and August 2009 at our institutions. Information was collected on collateral origin, arch sidedness, presence of central pulmonary arteries, and presence of an aberrant subclavian vessel. While patients with 22q11 deletion were more likely to have collateral origin from brachiocephalic vessels, patients without 22q11 deletion were more likely to have collateral origin from the descending aorta. There was no significant difference in arch sidedness or the presence of central pulmonary arteries. Patients with 22q11 deletion were more likely to have an aberrant subclavian artery (15/46 vs 5/54, p < 0.05), whether a left or right arch was present. Nine of the fifteen 22q11 deletion patients had a collateral originating from an aberrant subclavian artery. In time, genomic and embryologic research may help determine the exact mechanisms by which 22q11 deletion contributes to the development of congenital heart disease such as pulmonary atresia with ventricular septal defect and major aortopulmonary collaterals.

Ras相关C3肉毒杆菌毒素底物1在肺部疾病中作用及机制的研究进展

Ras相关C3肉毒杆菌毒素底物1(Ras-related C3 botulinum toxin substrate 1,RAC1)是Ras GTPase超家族的重要成员,在细胞的运动、增殖、黏附等方面发挥核心作用,同时还参与调节血管通透性以及细胞屏障功能。近年来,RAC1在多种肺部疾病发生、发展过程的作用逐渐受到关注,并逐渐成为肺部疾病研究的新方向。本文系统阐述了RAC1的生物学特性并总结了其在肺肿瘤、慢性阻塞性肺疾病、肺损伤和动脉型肺动脉高压中的功能及分子机制,以期为肺部疾病的治疗提供新思路。

高分辨CT三维重建联合肺泡灌洗液中SHOX2、RASSF1A基因甲基化检测诊断早期肺结节的价值

目的:探究高分辨CT三维重建联合肺泡灌洗液(BALF)中矮小同源盒基因2(SHOX2)、Ras相关区域家族A1(RASSF1A)基因甲基化检测诊断早期肺结节的价值。方法:选取2021年5月—2022年5月某院就诊并经纤维支气管镜(FB)检查的肺结节患者100例,FB下收集患者的BALF,通过实时荧光定量PCR法测定BALF中SHOX2和RASSF1A基因甲基化状态,同时收集高分辨CT三维重建检查、BALF检测结果。依据病检结果将患者分为恶性结节组(n=40)和良性结节组(n=60),分析高分辨CT三维重建检查、BALF中SHOX2、RASSF1A基因甲基化检测对早期肺结节的诊断价值,并绘制ROC曲线评价各检测方法在早期肺结节诊断中的效能。结果:SHOX2甲基化诊断恶性结节的敏感度为50.00%,AUC为0.708,RASSF1A甲基化诊断恶性结节的敏感度为52.50%,AUC为0.713,2基因甲基化联合诊断恶性结节的敏感度为75.00%,AUC为0.767。高分辨CT三维重建诊断恶性结节的敏感度为72.50%,特异度为73.33%,AUC为0.729,BALF对恶性结节的诊断敏感度为25.00%,特异度为100.00%,AUC为0.625。2基因甲基化联合+高分辨CT三维重建诊断恶性肺结节的AUC为0.890,敏感度与特异度分别为90.00%和73.33%,其诊断效能高于2基因甲基化联合+BALF细胞学分析和高分辨CT三维重建+BALF细胞学分析(Z=2.453、2.736,P均<0.05)。结论:高分辨CT三维重建联合BALF中SHOX2、RASSF1A基因甲基化检测在肺结节良恶性诊断中的鉴别效能较高,值得在临床中应用。

A Novel Perspective on Histopathology Provides Novel Insights into Surgical Effects in Pulmonary Atresia,Ventricular Septal Defect,and Major Aortopulmonary Collateral Arteries:A Case-Series Study

Background:Never had literatures characterized the relationship between the property of major aortopulmonary collateral arteries(MAPCAs)and outcomes of selective unifocalization of pulmonary atresia with ventricular septal defects and MAPCAs.Methods:This is a case-series study.Thirteen patients were included.Angiographybased assessment was conducted to determine whether collateral arteries should be unifocalized or treated with intraoperative ligature.Specimens were collected and stained by HE and ET+VG.Results:Twelve patients underwent one-stage unifocalization at a median age of 37 months(range:6–228 months)and a median weight of 14.0 kg(range:5.0–49.0 kg),which produced a favorable right ventricle to aortic systolic pressure ratio of no more than 0.5 except in one patient who died.Patients were divided into three groups:Group 1(n=6),had no native pulmonary arteries,and collateral arteries supplied all pulmonary blood;Group 2(n=6)presented dysplastic native pulmonary arteries on one or both sides,and in some lung lobes or segments,blood was supplied only by collateral arteries;Group 3(n=1)had well-developed left and right pulmonary arteries,and collateral arteries,and pulmonary arteries provided blood flow to the same segments.Pathological reports demonstrated two types of collateral arteries:Elastic arteries presented an arborization distribution similar to native pulmonary artery walls,while muscular arteries showed high resistance and distortion.We selectively unifocalized single-supply collateral arteries with morphologic features based on the arborization distribution.Conclusions:We found that there were two kinds of MAPCAs with different histology,and we performed selective UF for MAPCAs that might belong to the elastic artery.Selective unifocalization achieved a low right ventricle to aortic systolic pressure ratio and favorable surgical effects.

Valvuloplasty of fetal pulmonary atresia with intact ventricular septum and hypoplastic right heart: Mid-term follow-up results

Objective:This study aimed to analyze and evaluate the results of mid-term follow-up after fetal pulmonary valvuloplasty(FPV)in fetuses with pulmonary atresia with intact ventricular septum(PA/IVS).Methods:From August 31,2018,to May 31,2019,seven fetuses with PA/IVS and hypoplastic right heart were included in this study.All underwent echocardiography by the same specialist and were operated on by the same team.Intervention and echocardiography data were collected,and changes in the associated indices noted during follow-up were analyzed.Results:All seven fetuses successfully underwent FPV.The median gestational age at FPV was 27.54 weeks.The average FPV procedural time was 6 min.Persistent bradycardia requiring treatment occurred in 4/7 procedures.Finally,five pregnancies were successfully delivered,and the other two were aborted.Compared to data before fetal cardiac interventions(FCI),tricuspid valve annulus diameter/mitral valve annulus diameter(TV/MV)and right ventricle diameter/left ventricle diameter(RV/LV)of all fetuses had progressively improved.The maximum tricuspid regurgitation velocity decreased from 4.60 m/s to 3.64 m/s.The average follow-up time was 30.40±2.05 months.During the follow-up period,the diameter of the tricuspid valve ring in five children continued to improve,and the development rate of the tricuspid valve was relatively obvious from 6 months to 1 year after birth.However,the development of the right ventricle after birth was relatively slow.It was discovered that there were individual variations in the development of the right ventricle during follow-up.Conclusion:The findings support the potential for the development of the right ventricle and tricuspid valve in fetuses with PA/IVS who underwent FCI.Development of the right ventricle and tricuspid valve does not occur synchronously during pregnancy.The right ventricle develops rapidly in utero,but the development of tricuspid valve is more apparent after birth than in utero.

Whole Exome Sequencing Identifies A Novel Pathogenic Bmpr2 Variant in Pulmonary Atresia

Objective:Pulmonary atresia(PA)is a rare type of complex cyanotic congenital heart defect characterized primarily by an undeveloped pulmonary valve or pulmonary artery.Therefore,defining a disease-causing gene mutation in a pulmonary atresia family is a possible method of genetic counseling,future prenatal diagnosis,and therapeutic approaches for pulmonary atresia.Methods:Blood samples were collected from six PA family members,and genomic DNA was extracted using the QIAamp DNA Blood Mini Kit.Gene detection was performed using a second-generation sequencing gene panel.Results:Genetic testing results indicated that a heterozygous mutation originating from maternal inheritance was detected in the BMPR2 gene of the proband’s genomic DNA.The pathogenic gene was c.2804C>T(p.A935V).The mutation was also detected in the genomic DNA of the proband’s elder brother(III-1),but not in other family members.Conclusion:To the best of our knowledge,this is the first study to report the BMPR2 variant responsible for pulmonary atresia.The frequency of the c.2804C>T(p.A935V)mutation detected in this family is extremely low in the normal population(1/246048).The mutation was highly conserved among different species.Sorting intolerant from tolerant(SIFT)predicts it to be a harmful mutation.

The Clinical Application Value of Selective Unifocalization in the Treatment of Severe Pulmonary Artery Atresia with Ventricular Septal Defect

Background:This study aims to explore the efficacy of selective unifocalization(UF)for major aortopulmonary collateral arteries(MAPCAs)unifocalization in children with pulmonary atresia with ventricular septal defect(PA/VSD).Methods:A retrospective analysis of 13 patients with PA/VSD/MAPCAs who underwent surgery from June 2017 to December 2019.Sex,age,preoperative cardiovascular angiography test results and McGoon ratio were collected.The properties of the collateral arteries were evaluated by angiography,and selective UF for the“dendritic”MAPCAs and ligation of MAPCAs demonstrating distortion and resistance.Results:A total of 13 severe patients underwent one-stage repair,of which 1 case underwent ventricular septal fenestration and died after 2 weeks of ECMO support.The median age was 37 months,and a median weight was 14.0 kg.A right ventricular to aortic systolic pressure ratio(pRV/pAo)of no more than 0.5 was achieved in 12 living patients.Conclusion:Selective unifocalization based on MAPCAs morphology can achieved a good outcome at the early stage.This surgical concept might be provided a novel insight into treatment for some of the subgroups presenting with this complex form of PA/VSD/MAPCAs.

Management of ductal spasm in a neonate with pulmonary atresia and an intact ventricular septum during cardiac catheterization:A case report

BACKGROUND Ductal spasm is a rare but life-threatening complication of cardiac catheterization in neonates with pulmonary atresia and an intact ventricular septum.In patients with ductal-dependent pulmonary blood flow,ductal spasm may lead to refractory hypoxemia and severe hemodynamic instability,which need to be treated in perfect order.CASE SUMMARY We present a male infant with a gestational age of 39 wk,and his fetal echocardiography showed pulmonary atresia.At 28 d of age,transcatheter pulmonary valvuloplasty with balloon dilatation was performed.Two hours after the operation,the patient's pulse oxygen saturation continued to decrease.The patient was then transferred to receive cardiac catheterization.During catheterization,the invasive blood pressure and pulse oxygen saturation suddenly decreased,and repeated aortography revealed partial occlusion of the ductus arteriosus.It no longer changed when pulse oxygen saturation rose to 51%after approximately 20 min of maintenance therapy.Therefore,a ductal stent was used for implantation.Hemodynamics and hypoxemia were improved.CONCLUSION We should know that ductal spasm may occur during pulmonary atresia and intact ventricular septum cardiac catheterization.Understand the pathophysiology of ductal-dependent pulmonary blood flow and make comprehensive perioperative preparations essential to deal with hemodynamic disorders caused by ductal spasm.

Arrhythmic Risk in Paediatric Patients Undergoing Surgical Repair for Pulmonary Atresia with Intact Ventricular Septum

Introduction:While previous studies only focused on the arrhythmic risk associated with specific correction strategies,this study evaluates this risk in a large cohort of paediatric patients with all phenotypes of PA-IVS after surgical repair.Methods:In this single centre observational cohort study,we retrospectively evaluated 165 patients with a diagnosis of PA-IVS and we excluded those with an exclusively percutaneous treatment,patients lost or with insufficient follow-up and those affected by other arrhythmic syndromes.Surgical history and clinical outcomes were reviewed.Results:86 patients were included in the study(54 male[62.8%],mean age 16.4±6.1 years),with median follow-up from definitive repair of 12.8 years(6.4–18.9 years).They underwent three different final repairs:23 patients(26.7%)univentricular palliation,43(50%)biventricular correction,and 20(23.3%)one and a half ventricle correction.Thirteen patients(15%)developed arrhythmia:6 patients(all the subgroups)sinus node disfunction(SND);2(biventricular repair)premature ventricular complexes;2(one and a half ventricle repair)non-sustained ventricular tachycardia;1(biventricular repair)intra-atrial re-entrant tachycardia;1(one and a half ventricle repair)supraventricular tachyarrhythmia;1(biventricular repair)atrial fibrillation.Three patients with SND needed a pacemaker implantation.Only Fontan circulation showed an association with SND,while the other two groups heterogeneous types of arrhythmias.Conclusions:The low arrhythmic risk is related to surgical repair,it does not appear to be associated with native cardiomyopathy,and it appears to increase with length of follow up.Continuous follow-up in specialized centres is necessary to make an early diagnosis and to manage the potential haemodynamic impact at medium-long term.

Hybrid procedure for pulmonary atresia with intact ventricular septum

Objective In patients with pulmonary atresia and intact ventricular septum (PAIVS) without right ventricular-dependent coronaries,catheter techniques including the use of a sniff wire,lasers,and radiofrequency have been the most widely used as initial therapy. However,percutaneous perforation and balloon valvuloplasty were associated with higher rate of procedural failure and

新生儿室间隔完整型肺动脉闭锁治疗结果

目的 总结室间隔完整型肺动脉闭锁患儿的治疗经验。方法 回顾性分析2017年1月至2023年1月收治的16例新生儿室间隔完整型肺动脉闭锁临床资料,男9例,女7例;日龄4 h~25 d;入院体重1.6~4 kg,平均(3.22±0.65) kg。所有患儿初期治疗后进行随访,随访时间3个月至6年,中位随访时间33(12,55)月。初期治疗措施包括以下术式:体外循环下房间隔扩大、B-T分流、镶嵌治疗、非体外下经胸肺动脉瓣切开术等,每例患儿选择一种或者多种组合术式。结果 患儿院内死亡1例,院外无死亡病例。再次治疗6例,其中行经导管肺动脉瓣球囊扩张成形术5例,行双向Glenn术1例。其余9例患儿术中后已5年1例,经皮血氧饱和度>95%,房间隔转为左向右分流,远期免于再干预,其余患儿仍在随访中,存在再次干预可能。首次根治后1个月较大的肺动脉根部直径远期行双心室根治可能性大。结论 室间隔完整型肺动脉闭锁是需要序贯性治疗和观察的疾病,为获得较好的生存质量,初次治疗应依据右心室发育程度选择个性化措施,然后密切主动随访,适时给予再次治疗。

先天性心脏病宫内介入治疗现状与展望

胎儿宫内心脏介入治疗(FCI)技术自1991年起发展至今,随着技术成功率的提高、并发症的减少及对患胎预后的改善,该技术已逐步获得医学界的认可与推广。国际胎儿心脏介入注册数据库的建立促进了该技术的国际间交流和技术发展,国际报道临床病例已逾400例。在国内,迄今已有广东、上海、青岛、重庆等多家医疗机构开展宫内心脏介入治疗,但病例数仍有限。文章从胎儿宫内心脏介入治疗的种类、操作过程、手术并发症、治疗指征以及治疗结局进行综述,同时提出该技术目前存在的问题和未来的展望。

宫内心脏介入治疗胎儿危重型先天性心脏病5例报告

目的探索胎儿心脏介入治疗(FCI)对于胎儿危重型先天性心脏病的可行性及短期疗效。方法纳入2018年8月至2022年5月在宫内诊治中心进行FCI的所有患儿的临床资料,包括围产期至出生后基本信息、FCI手术信息、胎儿超声心动图信息等,追踪病例至出生后3月,分析FCI技术的可行性、有效性及安全性。结果纳入胎儿7例,其中5例实施FCI手术,手术成功率100%(5/5),包括2例重度主动脉瓣狭窄(CAS)和3例室间隔完整型肺动脉闭锁(PA/IVS)。手术时的中位孕周为29^(+2)(28^(+6)~32^(+4))周。5例胎儿FCI术后的超声心动图指标均获得明显改善。5例胎儿均足月出生,中位出生胎龄39^(+2)(38~39^(+4))周。生后2例CAS患儿行外科主动脉瓣成形术,3例PA/IVS患儿完成经皮肺动脉瓣球囊扩张术。1例心功能不全CAS患儿于新生儿期死亡,4例随访中,预后良好。结论FCI是一项安全、有效的技术,有望改善危重型先天性心脏病的预后。

HD-Flow联合STIC在胎儿肺动脉闭锁合并室间隔缺损诊断中的应用价值

目的:探讨高分辨率血流成像(HD-Flow)联合时间-空间复合成像(STIC)诊断胎儿肺动脉闭锁合并室缺(PA-VSD)的临床价值。方法:分析经胎儿超声心动图诊断的44例PA-VSD胎儿心脏二维、HD-Flow联合STIC图像,评估HD-Flow联合STIC在PA-VSD不同分型诊断中的效能,并探讨PA-VSD胎儿动脉导管内径与左、右肺动脉内径相关性。结果:HD-Flow联合STIC诊断44例PA-VSD,其中A型42例,C型2例。HD-Flow联合STIC能够清晰显示胎儿肺动脉及其分支血管及动脉导管血流;Pearson相关性分析表明A型动脉导管内径和左、右肺动脉内径均呈正相关(r=0.507、0.404,P<0.01)。结论:HD-Flow联合STIC能够明确诊断PA-VSD并分型,有较大的临床应用价值,A型PA-VSD胎儿动脉导管内径与左、右肺动脉内径存在正相关。

法洛四联症合并肺动脉闭锁的先天性心脏病1例并文献复习

法洛四联症(TOF)是最常见的紫绀型先天性心脏病,肺动脉闭锁(PA)也是一种较为复杂的先天性心脏畸形。本文对滨州医学院附属医院收治的1例TOF合并PA的先天性心脏病进行报道,手术方案采用外科生物补片进行肺动脉瓣的重建,缝至右心室切口到原肺动脉瓣处以抗肺动脉瓣反流,最后总结TOF/PA的临床表现、影像诊断、手术方案及未来的治疗前景等。

绵羊肺腺瘤kras和其他相关基因突变的检测

为了解绵羊肺腺瘤与基因突变的关系,从绵羊肺腺瘤病毒感染的病羊肺脏组织扩增kras、nras、pik3ca、egfr、p53基因突变频率高的位点所在外显子核苷酸序列,应用PCR-SSCP技术和测序分析检测基因突变。结果显示,nras、pik3ca、egfr基因未检测到突变。2个阳性样品kras基因第1外显子检测出突变,核苷酸突变为点为35G→T,编码的氨基酸位于第12密码子为12G→V。1个阳性样品p53基因第7外显子检测出突变,核苷酸突变位点为825T→C,编码的氨基酸未发生突变,依然是C。为绵羊肺腺瘤病毒(OPAV)分子致病机制的研究提供了参考资料。

诱导痰RASSF1A,p16和DAPK基因启动子区甲基化在肺癌诊断中的价值

目的:探讨诱导痰中RASSF1A,p16和DAPK基因启动子区异常甲基化及其联合检测在肺癌诊断中的价值。方法:采用甲基化特异性PCR(MSP)技术,检测82例肺癌患者诱导痰和对应肿瘤组织以及25例肺部良性病变组织中RASSF1A,p16和DAPK3种基因启动子区甲基化改变,并分析三者与临床病理资料的关系。结果:肺癌病理组织中RASSF1A,p16和DAPK基因启动子区甲基化检出率分别为63.4%,59.8%和58.5%,对应的诱导痰三者甲基化检出率分别为54.9%,48.8%和51.2%;肺部良性病变组织中甲基化检出率均为零,两组间比较差异有统计学意义(P<0.05)。RASSF1A基因甲基化检出率在中高分化和无淋巴结转移的肺癌中明显低于低分化和未分化及有淋巴结转移者(P<0.05),与年龄、性别、吸烟指数、临床分期及病理类型无关,而p16和DAPK基因甲基化检出率与上述因素均无明显相关性(P>0.05);联合检测3种基因甲基化的检出率为73.2%。结论:联合检测诱导痰中RASSF1A,p16和DAPK基因启动子区高甲基化有可能作为诊断肺癌及评估预后的简便有效的指标,并能提高检出率。