Isolated Ventricular Septal Defect: Ultrasound, Therapeutic and Evolutionary Aspects of 85 Cases in the Cardiology Department of the Ignace Deen National Hospital in Conakry

Introduction: Ventricular septal defect (VSD) is the most common congenital heart disease of all congenital heart defects. The aim of this study was to investigate the echographic, therapeutic and evolutionary aspects of ventricular septal defects (VSD) in the general cardiology department of the Hôpital National Ignace Deen. Methods: A retrospective data collection was carried out from January 2018 to December 2023 including 85 cases of isolated IVC was performed. The variables studied were epidemiological, clinical, paraclinical, therapeutic and evolutionary. Results: Of the 320 patients seen during the study period for congenital heart disease, 85 (26.556%) were isolated IVCs. Age at diagnosis ranged from 3 months to 16 years, with an average age of 3.59 years. The most represented ethnic group was the Fulani (50.58%). The 8.24% came from consanguineous marriage versus 22.35%. 91.76% of children had a history of bronchitis. The most common clinical signs found were systolic murmur (90.58%), growth retardation (51.76%). Only 4 cases (4.70%) had a malformation associated with IVC represented by DiGeorges disease (2.35%) and trisomy 21 (2.35%). Nearly half the patients had type IIb VIC (44.71%). The other half were represented by type 1 (18.82%), type IIa (20%), type III (10.59%) and type IV (5.88%). According to site more than two-thirds of VICs (71.64%) were perimembranous in location, followed by infundibular (16.47%) and muscular (11.76%) VICs. In our study 55.29% presented an indication for both surgical intervention and medical treatment, while 16.47% required only medical treatment. In contrast, 28.23% were placed under exclusive surveillance. Of the 47 patients for whom surgery was indicated, 29 (61.17%) underwent surgical repair, while 18 (38.83%) were awaiting confirmation for surgery. Conclusion: VIC is the most common congenital heart disease. An early detection strategy and the establishment of specialized centers could improve the outcome of these children.

Cardiac resynchronization therapy for heart failure induced by left bundle branch block after transcatheter closure of ventricular septal defect

A 54-year-old female patient with congenital heart disease had a persistent complete left bundle branch block three months after closure by an Amplatzer ventricular septal defect occluder. Nine months later, the patient suffered from chest distress, palpitation, and sweating at daily activities, and her 6-min walk distance decreased significantly （155 m）. Her echocardiography showed increased left ventricular end-diastolic diameter with left ventricular ejection fraction of 37%. Her symptoms reduced significantly one week after received cardiac resynchronization therapy. She had no symptoms at daily activities, and her echo showed left ventricular ejection fraction of 46%and 53%. Moreover, left ventricular end-diastolic diameter decreased 6 and 10 months after cardiac resynchronization therapy, and 6-min walk dis-tance remarkably increased. This case demonstrated that persistent complete left bundle branch block for nine months after transcatheter closure with ventricular septal defect Amplatzer occluder could lead to left ventricular enlargement and a significant decrease in left ventricular systolic function. Cardiac resynchronization therapy decreased left ventricular end-diastolic diameter and increased left ventricular ejection fraction, thereby improving the patient’s heart functions.

Pentalogy of Cantrell with Pentalogy of Fallot and Left Ventricular Diverticulum

Pentalogy of Cantrell is a congenital anomaly characterized by a combination of birth defects involving the sternum,diaphragm,pericardium,abdominal wall,and heart.Pentalogy of Cantrell is a rare anomaly with high mortality.This paper describes the treatment of a 9-month-old girl with pentalogy of Cantrell,pentalogy of Fallot,and left ventricular diverticulum.The patient is alive and well 13 years after surgery.

Usefulness of myocardial performance index for assessing right ventricular function after percutaneous closure of atrial septal defect

Objective Assessment of right ventricular function in patients with atrial septal defect(ASD)is difficult.The Doppler myocardial performance index(MPI)may provide a method of assessing function in these patients.The purposes of this study were to evaluate the right ventricular function and its changes in patients with ASD after transcatheter closure of ASD.Methods MPI,defined as the sum of isovolumic relaxation time and isovolumic contraction time derived by ejection time,was measured from tricuspid inflow and right ventricular outflow;Doppler velocity profiles recorded during routine echocardiography.Twenty nine patients(13 men,16 women;mean age 25.28±12.69,range 6 to 57 years)were diagnosed to secundum ASD[the stretched diameters of ASD were from 9 To 36(24.91±7.98)mm],and had a successfully placed Amplatzer septal occluder(ASO)(the sizes of ASO were from 11 to 40 mm);there were 81 sex-matched,age-matched healthy people(control group 41men,40 women;mean age 29.02±14.22,range 4 to 45 years).MPI was measured again on 3 days and 1 month after closure of ASD.Change in the study group was assessed and compared to the control subjects with structurally normal hearts.A complete 2-dimensional and Doppler echocardiographic examination was performed in all study groups.Results 1)The isovolumic relaxation and isovolumic contraction times[respectively(77.59±14.39)ms vs(60.93±12.94)ms,P<0.0001;(28.28±10.88)ms vs(23.64±9.01)ms,P=0.027]were prolonged,and ejection time[(260.65±21.86)ms vs(271.85±21.92)ms,P=0.033]was shortened in patients with ASD compared with that in control subjects,resulting in a marked increase in the MPI(0.40±0.07 vs 0.31±0.05,P<0.0001)from normal values;2)by Pearson's correlations,the MPI had no correlation with heart rate and blood pressure in control subjects and patients with ASD,but it correlated positively with age in patients with ASD;3)by Pearson's correlations,the MPI correlated positively with the diameter of ASD and pulmonary artery pressure;4)after transcatheter closure of ASD,the MPI decreased markedly.Conclusions 1)MPI is a conceptually new,simple,and reproducible Doppler index in patients with ASD;2)MPI is free from the effect of age,heart rate and blood pressure;(3)MPI appears to be relatively dependent on changes in the diameter of ASD and pulmonary artery pressure;4)the right ventricular function was improved after transcatheter closure of ASD.

Evaluation of Left Ventricular Rotation and Twist Using Speckle Tracking Imaging in Patients with Atrial Septal Defect

Speckle tracking imaging （STI） was employed to investigate the effect of right ventricular （RV） volume and pressure overload on left ventricular （LV） rotation and twist in 35 patients with atrial septal defect （ASD）, 18 of which with pulmonary hypertension, and 21 healthy subjects serving as controls. The peak rotations of 6 segments at the basal and apical short-axises and the average peak rotation and interval time of the 6 segments in the opposite direction during early systolic phase were measured respectively. LV twist versus time profile was drawn and the peak twist and time to peak twist were calculated. LV ejection fraction （EF） was measured by Biplane Simpson. Compared to ASD patients without pulmonary hypertension and healthy subjects, the peak rotations of posterior, inferior and postsept walls at the basal level were lower （P〈0.05）, and the average counterclockwise peak rotation of 6 segments at the basal level during early systolic phase was higher （P〈0.05）, and the average interval time was delayed （P〈0.05）. LV peak twist was also lower （P〈0.05）, and had a significant negative correlation with pulmonary arterial systolic pressure （r=-0.57, P=0.001）. No significant differences were found in LVEF among the three groups. It was suggested that although RV volume overload due to ASD has no significant effects on LV rotation and twist, LV peak twist is lower in ASD patients with pulmonary hypertension. Thus LV twist may serve as a new indicator of the presence of pulmonary hypertension in ASD patients.

THE EXPESSION OF ENDOTHELIN-1 IN VENTRICULAR SPETAL DEFECT WITH PULMONARY HYPERTENSION

Objective To research the expression of endothelin-1 (ET-1) in vascular of lung, endocardium and myocardial vascular of congenital heart disease (CHD) ventricular septal defect (VSD) with pulmonary hypertension (PH). Methods The Streptavidin-peroxidase (SP) immunoassay was used to measure the expression of ET-1 in pulmonary arteriola, pulmonary veinlet, endocardium and endangium of vasa coronary of 20 cases VSD of CHD with PH, and contrast the expression level of these 20 cases VSD of CHD with PH. Results The expression of ET-1 PH patients in pulmonary arteriola, endocardium, and endangium of vasa coronary was much higher than that of the control group (P<0.05), but there was no significance variance in expression level of pulmonary veinlet between two groups (P>0.05). Conclusion If VSD of CHD was accompany with PH, the degree of PH has a positive correlation with the amount of ET-1 in pulmonary arteriola, ET-1 may be the cause of dynamic PH, and also the acceleration factor of the PH. However, the amount of ET-1 in endocardium and endangium of vasa coronary, may have significant connection with the myocardium hypertrophy in dynamic PH.

Transcatheter closure of perimembranous ventricular septal defects:single centre experience in China

Ventricular septal defect （VSD） is one of the most common congenital heart malformation.As an isolated lesion, it accounts for 20% -30% of patients with congenital heart disease. Eighty percent of these defects are perimembranous involving the membranous septum and the adjacent area of muscular septum. At least 80% of these defects are small and close spontaneously, the larger defects often persist to cause significant shunt and right ventricular hypertension. Although conventional surgical repair of perimembranous ventricular septal defects （PMVSDs） is a safe, widely accepted procedure with negligible mortality. It is associated with morbidity, discomfort and a thoracotomy scar. As an alternative to surgery, a variety of devices for transcatheter closure of VSD have been developed. However, these devices were not specifically designed for this purpose and none has gained wide acceptance. Large delivery sheaths, inability to recapture and reposition, structural failure, dislodgement and embolization of the device, interference with the aortic valve resulting in aortic insufficiency and a high rate of residual shunting are the major limitations of the previously described techniques.

Family lifestyle factors related to children's congenital heart defects in China:a case-control study

Objective To explore the multiple risk factors for family lifestyle of children with congenital heart defects(CHDs)in Shaanxi Province,China.Methods A 1∶1 case-control study was carried out to investigate 60 pairs of children and their parents.The univariate and multivariable logistic regression models were used to analyze the influence of risk factors related to parents’ lifestyle on CHDs.Results Several possible risk factors were found for CHDs,including fever(OR=4.465,P=0.017),pesticides contact(OR=2.234,P=0.083),passive smoking during pregnancy(OR=20.529,P=0.007)and father’s smoking(OR=3.342,P=0.005);fever(OR=2.428,P=0.012)and passive smoking during pregnancy(OR=1.201,P=0.037)were also correlated with ventricular sepal defect(VSD).Conclusion Fever,pesticides contact and passive smoking are associated with CHDs during pregnancy.We should focus our attention on health care during pregnancy to avoid the above-mentioned risk factors and call on parents to hold on to a good healthy lifestyle.

Echocardiographic evaluation of right ventricular function in congenital heart disease

Objective This review aims to provide an overview of conventional and novel indices used in clinical and research arenas for evaluation of right ventricular （RV） function in congenital heart diseases with a dual-chambered circulation.Data sources Articles cited in this review were selected using PubMed search of publications in English with no date limits.The search terms included ＂echocardiography＂,＂right ventricle＂,＂RV function＂,＂cardiac function＂,and ＂congenital heart disease＂.Key references were also searched for additional publications.Study selection Articles related to description of echocardiographic techniques in the evaluation of subpulmonary or systemic RV function and their applications in congenital cardiac malformations were retrieved and reviewed.Results Three approaches have been used to evaluate subpulmonary and systemic RV function：（1） assessment of changes in RV size in the cardiac cycle,（2） determination of Doppler-derived velocities and systolic and diastolic time intervals,and （3） quantification of myocardial velocities and deformation.Conclusions Conventional and novel echocardiographic techniques enable the evaluation of subpulmonary and systemic RV function.Novel echocardiographic techniques have further allowed quantification of RV volumes and direct interrogation of myocardial deformation.These new techniques show promise in a more comprehensive evaluation beyond ＂eye-bailing＂ of RV function in the growing population of adolescent and adult congenital heart patients.

Novel and functional DNA sequence variants within the GATA5 gene promoter in ventricular septal defects

Background:Congenital heart disease(CHD)is the most common human birth defect.Genetic causes for CHD remain largely unknown.GATA transcription factor 5(GATA 5)is an essential regulator for the heart development.Mutations in the GATA5 gene have been reported in patients with a variety of CHD.Since misregulation of gene expression have been associated with human diseases,we speculated that changed levels of cardiac transcription factors,GATA5,may mediate the development of CHD.Methods:In this study,GATA5 gene promoter was genetically and functionally analyzed in large cohorts of patients with ventricular septal defect(VSD)(n=343)and ethnic-matched healthy controls(n=348).Results:Two novel and heterozygous DNA sequence variants(DSVs),g.61051165A>G and g.61051463delC,were identified in three VSD patients,but not in the controls.In cultured cardiomyocytes,GATA5 gene promoter activities were significantly decreased by DSV g.61051165A>G and increased by DSV g.61051463delC.Moreover,fathers of the VSD patients carrying the same DSVs had reduced diastolic function of left ventricles.Three SNPs,g.61051279C>T(rs77067995),g.61051327A>C(rs145936691)and g.61051373G>A(rs80197101),and one novel heterozygous DSV,g.61051227C>T,were found in both VSD patients and controls with similar frequencies.Conclusion:Our data suggested that the DSVs in the GATA5 gene promoter may increase the susceptibility to the development of VSD as a risk factor.

Ventricular Septal Defects at the Souro Sanou University Hospital Center (CHUSS): Ultrasound, Therapeutic and Evolutionary Aspects of 88 Cases

Background: There is a need for data on epidemiological, clinical and therapeutic aspects of ventricular septal defect among children in?Sub-Saharan Africa. Objective: The aim of this study was to determine the prevalence, epidemioclinical, echocardiographic, therapeutic and evolutionary aspects of ventricular septal defects (VSD) in the pediatric department of the University Hospital Center (CHUSS) of Bobo-Dioulasso. Methods: This study was a descriptive cross-sectional study, conducted from November 2013 to December 2016. All children aged 1 to 179 months seen at the pediatric consultation in CHUSS were included. CIV was confirmed with Doppler echocardiography. Results: Out of 36,240 children who received consultation in the pediatric ward of CHUSS during the study period, one hundred (100) cases of them had congenital heart disease representing a hospital prevalence of 2.76%. This was diagnosed with Doppler echocardiography. Of these, 88% were VSD isolated or associated with other cardiac malformations. Isolated form was reported in 54.3% of cases. The average?age at diagnosis was 39.6 months. The sex ratio was 1.05. Perimembranous topography and hemodynamic type 2 were the highest, representing 56.8% and 35.2% respectively. The indication for surgical repair was recommended for 81.8% of the cases, but only 9.7% of these cases benefited from cardiac surgery. The rest were for medicalcare with a high proportion of lost to follow-up (48.9%). Conclusion: VSD is the most common congenital heart disease. Its care is mainly surgical. This cardiac surgery is non-existent in Burkina Faso. The design of multidisciplinary strategies associated with an optimization of the means of the countries of Sub-Saharan Africa could improve the management of this cardiopathy.

Echocardiogram in predicting correctable shunts in ventricular septal defect patients associated with severe pulmonary hypertension

Background Echocardiogram is a simple and useful tool in disease assessment.In ventricular septal defect(VSD)patients with severe pulmonary hypertension(PH),it is difficult to judge whether further intervention is needed.Therefore,this study aimed to investigate the application of echocardiogram in predicting the severity of pulmonary hypertension and guide subsequent management.Methods This study included VSD patients who underwent right heart catheterization(RHC)examination in Guangdong Provincial People's Hospital from January2011 to December 2022.An estimated pulmonary artery systolic pressure(e PASP)higher than 60 mm Hg was defined as severe PH in this study.Logistic regression analysis and receiver operating characteristic curve(ROC)analysis were used.Results A total of 186 VSD patients with severe PH(e PASP more than 60 mm Hg)were included in this study,with 158 cases in the non-correctable group and 28 cases in the collectable group.In univariable logistic regression,left atrium dimension(LA),left ventricular end-diastolic dimension(LVDd),left ventricular end-systolic dimension(LVDs),peak velocity of the pulmonary valve(PV),peak velocities from the early phase of the mitral inflow(MVE),bidirectional shunting and pericardial effusion were associated with a correctable shunt.When adjusted in multivariable model,only PV and bidirectional shunting remained statistically significant.The ROC curve found that PV exhibits good discriminative ability for correctable shunt(AUC[area under the curve]:0.779,95%CI:0.676-0.871)with a cut-off value of 1.465 m/s.The predictive performance of bidirectional shunting was not satisfactory,with a low AUC of 0.669(95%CI:0.571-0.766).Conclusions PV and bidirectional shunting are simple and clinically available parameters from echocardiogram in predicting PH severity,which not only avoids the repeated unnecessary cardiac catheterization,but also provides a reference basis for follow-up evaluation.

儿童肌部室间隔缺损的介入治疗研究

目的探讨应用Cardi-O-Fix Plug封堵器治疗儿童肌部室间隔缺损(muscular ventricle septal defect,mVSD)的有效性和安全性。方法将昆明医科大学第一附属医院从2015年7月至2021年6月心内科收治的14例mVSD患儿作为研究对象。分为实验组(14例)和对照组(10例),实验组采用Cardi-O-Fix Plug封堵器进行封堵,对照组采用Cardi-O-Fix mVSD封堵器进行封堵。术后1d以及随访1个月、3个月、6个月采用经胸超声心动图和心电图评价封堵疗效及并发症的发生情况。结果24例患儿中22例成功封堵,2例封堵失败(实验组和对照组各1例),实验组成功率92.8%(13/14),对照组成功率90.0%(9/10)。实验组的平均手术时长(71.93±14.85)min,对照组的平均手术时间时长(90.70±19.78)min,二者比较差异有统计学意义(P<0.05)。实验组和对照组在术中及随访期间均未出现严重并发症。比较不同时间点2组的心脏超声指标(包括左室射血分数、左室舒张末期内径以及肺动脉压),差异均无统计学意义(P>0.05)。结论采用Cardi-O-Fix Plug封堵器在经皮导管封堵心尖部及小梁部的儿童mVSD手术安全有效,短期及中长期发生心律失常的概率低。

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。

先天性心脏病术后右心功能影像学评估研究进展

右心功能恢复是维持心脏病术后患者循环稳定的关键,也是复杂先天性心脏病二期手术时期的重要参考因素。但右心室的复杂几何形态和室壁运动对右心功能的无创评估造成一定困难。心脏磁共振(CMR)是常用影像学方法中的“金标准”,复杂先天性心脏病术后需定期做CMR检查。CMR新技术的应用主要包括4D flow血流动力学测量、定量成像和示踪技术,根据心肌损伤程度评估右心室功能。超声心动图是应用最广的一线影像学检查,适用于所有先天性心脏病术后心功能评估,超声斑点追踪技术的发展已更加成熟。心脏计算机断层扫描评估血管和累及肺部病变具有突出优势,常作为CMR的替代方案。人工智能在图像处理技术的发展大幅度提升了影像学检查的诊断和预测价值。本文对CMR、超声心动图和心脏计算机断层扫描的特点和评估先天性心脏病术后右心功能的研究进展进行综述。

经胸微创室间隔缺损封堵术临床分析

目的观察分析经胸微创室间隔缺损封堵术的应用效果。方法回顾性选取2018年2月至2023年12月期间在贵州医科大学附属医院接受经胸微创室间隔缺损封堵术的100例患者,均为单发,收集其临床资料,分析封堵术效果。结果100例患者中97例成功封堵,成功率97%(P<0.001),3例患者调整为低温体外循环手术。封堵成功的97例中41例使用偏心封堵器,56例使用等边封堵器,使用等边型封堵器类型的患者例数更多(P<0.05);随访3~6个月后,1例患者出现残余分流情况,更换封堵伞型号后再次封堵,分流情况消失。结论采用经胸微创室间隔缺损封堵手术有较高的封堵成功率,患者并发症发病率相对较低,可在临床中推广应用。

不同介入治疗在小儿先天性心脏病室间隔缺损中的应用研究

目的探究对小儿先天性心脏病室间隔缺损进行不同介入方式治疗的效果。方法选取南阳市第一人民医院2019年6月至2023年6月收治的80例先天性心脏病室间隔缺损患儿,按照随机法分为对照组与研究组,各40例。对照组给予患儿介入封堵术进行治疗,研究组给予患儿经导管介入术进行治疗。对比两组患儿的临床指标、心脏功能指标、心脏彩超指标以及并发症发生率。结果研究组临床指标低于对照组(P<0.05);两组患儿治疗前后的射血分数(EF)、左室短轴缩短分数(FS)、每搏输出量(SV)以及心输出量(CO)水平比较,差异无统计学意义(P>0.05),术后患儿心脏功能表现正常(P>0.05);治疗后,研究组心脏彩超指标优于对照组(P<0.05);研究组治疗有效率高于对照组(P<0.05)。结论介入封堵术与经导管介入术在小儿先天性心脏病室间隔缺损应用中临床价值均较高,对患儿的心脏功能指标影响均较小,说明两种治疗方式均安全有效,经导管介入术的并发症发生率低于介入封堵术,对患儿创伤较小,且临床疗效高于介入封堵术,值得临床推荐。

Clinical Study on Amplatzer Occluder Device to CloseVentricular Septal Defect

Objectives To evaluate the therapeutic effect of transcatheter Amplatzer device on the closure of ventricular septal defect （VSD）. Methods Among 143 patients with VSD, 135 patients with perimembrane VSD and 2 with muscular VSD aged 2.5 -28 years old, were successfully closed with Amplatzer oeeluder device by the pereutaneous guidwire through femoral artery-VSD-femoral vein route under the guidance of fluoroscopy, ventrieulography and transthoracic echocardiography （TIE）. The diameters of the VSDs were 2.3-15.7 （6.90±2.76）mm by left ventriculography. Results The success rate of transcatheter closure of VSD with Amplatzer devices was 96%（137/143）. Minimal residual amount of shunts were found in one patient, although the shunts was decreased one month after the procedure. There were one patient who had respiratory arrest during the procedure, 7 patients（5%）had conduction disturbance, 3 patients had complete left bundle branch block, 2 patients had complete right bundle branch block, 1 patient had Ⅰ degree atrial-ventricular block and 1 patient had Ⅲ degree atr/al-ventricular block during hospitalization. The diameters of the occluder ranged from 4 to 23 （9.13±3.31）mm and were symmetrical in 122 patients and asymmetrical in 15 patients. Conclusions Transcatheter closure of the perimembranous ventrieular septal defect using Amplatzer VSD occluder device is an efficient method for patients with the perimembranous VSD. The operation is simple with a high success rate and a good effect.

Association of TBX5 gene polymorphism with ventricular septal defect in the Chinese Han population

Background Congenital heart disease is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with development of the heart. A recent focus is the role of transcription factor TBX5 in the development of atria, left ventricle and conduction system. As part of a larger study, high density, single nucleotide polymorphism （SNP） scanning was used to explore the relationship between TBX5 gene polymorphism and susceptibility to ventricular septal defect not associated with forelimb malformation in the Chinese Han population.Methods One hundred and ninety two paediatric patients with congenital ventricular septal defect and 192 matched healthy control subjects were studied. The haplotype reconstructions were calcutated by PHASE2.0 software. Haploview software was used to perform linkage disequilibrium assessment and defining of haplotype blocks. The algorithm used for defining of blocks was the confidence interval method.Results The TBX5 gene region can be divided into 3 haplotype blocks of 27, 15 and 2 SNPs. Strong linkage disequilibrium exists within each block. SNP rs11067075 within the TBX5 gene had significant correlation with ventricular septal defect （P=0.0037） by single marker association analysis. In addition, a 20 kb haplotype composed of 27 SNPs correlated with ventricular septal defect （P=0.05, multiple loci regression analyses based on reconstructed haplotype blocks）. Conclusions TBX5 is associated with the occurrence of ventricular septal defect and may be a predisposing gene to congenital heart disease in Han Chinese. This finding has set a direction for further genetic and functional studies.

Midterm results of diagnostic treatment and repair strategy in older patients presenting with nonrestrictive ventricular septal defect and severe pulmonary artery hypertension

Background Congenital heart disease with severe pulmonary arterial hypertension （SPAH）,previously thought to have irreversible pulmonary vascular disease （PVD）,has been recently successfully corrected using diagnostic treatment and repair strategy by our surgery team.This study aimed to evaluate the midterm results of a selected cohort of older patients with nonrestrictive ventricular septal defect （VSD） and SPAH using diagnostic treatment and repair strategy.Methods The records of 56 patients older than six years with nonrestrictive VSD and SPAH undergoing diagnostic treatment and repair strategy from 2006 to 2012 were retrospectively reviewed.All patients received advanced pulmonary arterial hypertension （PAH） therapy and radical repairs were performed when transcutaneous oxygen saturation （SPO2） increased up to 93％.Results There were no operative deaths.SPO2 and baseline six-minute walk test （SMWT） distance of all selected patients increased significantly and mean pulmonary artery pressure （MPAP） regressed significantly after diagnostic treatment and at late follow-up （P ＜0.01）.The incidence of late postoperative PAH was seen in six （10.7％） patients and by Logistic regression analysis,early postoperative PAH was an independent risk factor related to late postoperative PAH.Conclusions Diagnostic treatment and repair strategy was effective and safe for treatment of nonrestrictive VSD and SPAH and the midterm results were excellent.Diagnostic treatment strategy was effective in assessing the reversibility of SPAH in older patients associated with nonrestrictive VSD and the PVD in these selective patients is generally reversible.