Genetic Analysis of Variants of the MYH6 Gene Promoter in Congenital Atrial Septal Defects

Background:Atrial septal defect(ASD)is one of the common congenital heart diseases.The MYH6 gene has a critical role in cardiac development but the role of MYH6 promoter variants in patients with ASD has not been explored.Methods:In 613 subjects including 320 ASD patients,we investigated the MYH6 gene promoter variants and verified the effect on gene expression by using cellular functional experiments and bioinformatics analysis.Results:Eleven variants were identified in the MYH6 gene promoter,of which four variants were found only in ASD patients,and two variants(g.3434G>C and g.4524C>T)were identified for the first time.Cellular functional experiments indicated that all four variants reduced the transcriptional activity of the MYH6 gene promoter(p<0.05).Subsequent analysis through the JASPAR(A database of transcription factor binding profiles)suggests that these variants may alter transcription factor binding sites,which may in turn lead to changes in myocardin subunit expression and ASD formation.Conclusions:Our study for the first time focuses on variants in the promoter region of the MYH6 gene in Chinese patients with ASD and the discovered variants have functional significance.The study provides new insights in the role of the MYH6 gene promoter region to better understand the genetic basis of ASD formation and facilitates clinical diagnosis.

Impact of Atrial Septal Defect Closure on Mortality in Older Patients

Background:Atrial septal defect(ASD)is a common form of adult congenital heart disease that can lead to long-term adverse outcomes if left untreated.Early closure of ASD has been associated with excellent outcomes and lower complication rates.However,there is limited evidence regarding the prognosis of ASD closure in older adults.This study aims to evaluate the mortality rates in older ASD patients with and without closure.Methods:A retrospective cohort study was conducted on patients aged 40 years or older with ASD between 2001 and 2017.Patients were followed up to assess all-cause mortality.Univariable and multivariable analyses were performed to identify the predictors of mortality.A p-value of<0.05 was considered statistically significant.Results:The cohort consisted of 450 patients(mean age 56.6±10.4 years,77.3%female),with 66%aged between 40 and 60 years,and 34%over 60 years.Within the cohort,299 underwent ASD closure(201 with transcatheter and 98 with surgical closure).During the median follow-up duration of 7.9 years,51 patients died.The unadjusted cumulative 10-year rate of mortality was 3%in patients with ASD closure,and 28%in patients without ASD closure(log-rank p<0.001).Multivariable analysis revealed that age(hazard ratio[HR]1.04,95%confidence interval[CI]1.006–1.06,p=0.01),NYHA class(HR 2.75,95%CI 1.63–4.62,p<0.001),blood urea nitrogen(BUN)(HR 1.07,95%CI 1.03–1.12,p<0.001),right ventricular systolic pressure(RVSP)(HR 1.07,95%CI 1.003–1.04,p=0.01),and lack of ASD closure(HR 15.12,95%CI 5.63–40.59,p<0.001)were independently associated with mortality.Conclusion:ASD closure demonstrated favorable outcomes in older patients.Age,NYHA class,BUN,RVSP,and lack of ASD closure were identified as independent factors linked to mortality in this population.

Congenital heart“Challenges”in Down syndrome

In this editorial,we comment on the article by Kong et al published in the recent issue of the World Journal of Cardiology.In this interesting case,the authors present the challenges faced in managing a 13-year-old patient with Down syndrome(DS)and congenital heart disease(CHD)associated with pulmonary arterial hypertension.In this distinct population,the Authors underscore the need for early diagnosis and management as well as the need of a multidisciplinary approach for decision making.It seems that the occurrence of CHD in patients with DS adds layers of complexity to their clinical management.This editorial aims to provide a comprehensive overview of the intricate interplay between DS and congenital heart disorders,offering insights into the nuanced diagnostic and therapeutic considerations for physicians.

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.

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.

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。

经胸超声心动图诊断封堵房间隔缺损过程中冠状动脉空气栓塞1例

患者女,55岁,间断头痛20年、加重伴心前区疼痛3个月,期间血压最高达160/110 mmHg;20年前于外院接受子宫切除术;无家族病及遗传病史。心电图未见明显异常。经胸超声心动图(transthoracic echocardiography,TTE):Ⅱ孔中央型房间隔缺损,最大直径8 mm;心房水平左向右分流,左心饱满;三尖瓣少量反流,肺动脉收缩压36 mmHg;经食管超声心动图见10 mm×4 mm椭圆形房间隔缺损,右心房内见冗长下腔静脉瓣回声飘动。

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。

妊娠合并房间隔缺损并发醒后卒中1例报道

妊娠期缺血性卒中发病率低、致死率高。本文通过回顾1例妊娠合并有房间隔缺损并发醒后卒中患者的临床及影像学检查资料,探讨妊娠相关卒中的影像学表现、发病机制和治疗策略,旨在提高临床医师对合并有房间隔缺损的孕妇并发急性脑卒中的认识,为临床诊疗提供参考。

心房颤动介入术后医源性房间隔缺损右向左分流发生情况及其临床影响的研究

目的探讨心房颤动(房颤)患者介入治疗中行房间隔穿刺术后造成医源性房间隔缺损(iASD)的右向左分流(RLS)发生情况及影响因素,并分析其与新发偏头痛之间的相关性,为相关临床事件的预防和治疗提供依据。方法选取2022年11月至2023年3月阜阳市人民医院心血管内科收治的行房颤介入手术[包括导管射频消融术(RFCA)、经皮左心耳封堵术(LAAC)、“一站式”(RFCA+LAAC)手术]的患者54例,根据术后48 h内iASD是否存在RLS分为RLS组24例与非RLS组30例,收集2组一般临床资料及超声指标,分析RLS的发生情况和影响因素,以及术后3个月内新发偏头痛情况。结果所有患者术后iASD均出现左向右分流,24例(44.44%)患者出现RLS,iASD为(5.12±0.80)mm。随访3个月,2组新发偏头痛比较,差异无统计学意义(P>0.05)。RLS组年龄、持续性房颤比例、iASD尺寸大于非RLS组,差异有统计学意义(P<0.05,P<0.01)。多因素logistic回归分析显示,iASD尺寸是发生RLS的危险因素(OR=2.245,95%CI:1.040~4.846,P=0.040)。结论房颤介入治疗术后iASD出现RLS较为常见,与患者早期出现新发偏头痛无相关性,iASD尺寸是发生RLS的危险因素。同时,iASD在血流动力学及临床事件方面的影响应予以关注。

房间隔缺损相关肺动脉高压机制及治疗进展

房间隔缺损(ASD)是常见的先天性心脏病,部分患者可能会并发肺动脉高压,对治疗和预后产生重大影响。虽然分流是先天性心脏病患者发生肺动脉高压的决定性因素,但部分患者的分流量并不足以解释肺动脉高压的严重程度。因此,阐明ASD相关肺动脉高压多方面的发病机制,对于认识肺动脉高压的发生发展过程和指导ASD的治疗具有重要意义。现就ASD相关肺动脉高压的病理生理学机制、危险因素和治疗策略的研究进展做一综述,为此类患者的诊治提供参考。

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.

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。

Improvement of the Technique for Transcatheter Closure of Atrial Septal Defect in Children

Objectives To improve experience of procedure and success rate of interventional treatment of atrial septal defect （ASD） in children, applying the technique of controlling release of devices in the pulmonary vein （controlling two disc of device opening for subsequence） in children cases with ASD who can not be occluded by regularly interventional treatment. Methods Since 2000 year 182 child cases （male 70 and 112 female） underwent the procedure of controlling release of devices in the pulmonary vein. The patients＇ age was from 2 to 14 years old （average 3.77±1.55）. The body weight was from 9 to 48 Kg （average 21.53±10.63）. When the devices were placed on the right position with difficulty and failure in some cases with short and soft rims of the defect and large defect and the angle between the device and the interval atrial septal （IAS）, It could be helpful to put the device into the left upper pulmonary vein, and to make right atrium （proximal） disc opened before the left atrium （distal） disc naturally fall down. At the end the double disc of the device clamped and stood up at the right position of the IAS. After closure of ASD, patients were followed up regularly by echocardiography, X-ray and ECG in the 1,3,6,12 month and 3,5 years. Results The successful rate of device implantation in the improving group （98.4%） was obviously higher than that in the regularly group （68%）. The techniques improved in this group with the smaller age, the lighter weight, the larger defect and the larger device comparing with the regularly group. The velocity of the pulmonary vein before occlusion procedure was （0.54±0.15）m/s; after procedure was （0.56±0.16）m/s, P 〉 0.05,there were no significant difference. All cases couldn＇t found pulmonary congestion by follow up. Conclusions The method of controlling release of device in the pulmonary vein has been used more than 5 years in the occlusion of ASD with double disc device. It is feasible and safety. The aim of the improvement is for overcoming the problem with larger ASD and the rim deficiency in the interventional procedure in children with ASD. In summary： 1. The performance of the procedure must be careful; 2. To avoid complication when put the sheath into the pulmonary vein; 3. To avoid to put the left disc into pulmonary vein too long and pull the device too much; 4. When the procedure have to operate repeatedly, the device can not be released before the position satisfactory. The improvement of the technique is needed to carry on long-term follow-up in the clinical trials.

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。

Misdiagnosis of unroofed coronary sinus syndrome as an ostium primum atrial septal defect by echocardiography:A case report

BACKGROUND Unroofed coronary sinus syndrome(UCSS)is a rare congenital heart disease,which has variable morphologic features and is strongly associated with persistent left superior vena cava(PLSVC).However,it is often difficult to visualize the left-to-right shunt pathway through the CS by transthoracic echocardiography(TTE).CASE SUMMARY A 37-year-old female was admitted to the hepatological surgery department of a hospital with complaint of subxiphoid pain that had started 1 wk prior.Physical examination revealed a grade 3/6 systolic murmur at the left margin of the sternum,between the 2nd and 3rd intercostal cartilage.The patient underwent echocardiography and was diagnosed with ostium primum atrial septal defect(ASD);thus,she was subsequently transferred to the cardiovascular surgery department.A second TTE evaluation before surgery showed type IV UCSS with secundum ASD.Right-heart contrast echocardiography(RHCE)showed that the right atrium and right ventricle were immediately filled with microbubbles,but no microbubble was observed in the CS.Meanwhile,negative filling was observed at the right atrium orifice of the CS and right atrium side of the secundum atrial septal.RHCE identified UCSS combined with secundum ASD but without PLSVC in this patient.CONCLUSION This rare case of UCSS highlights the value of TTE combined with RHCE in confirming UCSS with ASD or PLSVC.

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.

Successful totally transthoracic echocardiography guided transcatheter device closure of atrial septal defect in pregnant women

BACKGROUND Transcatheter device closure of atrial septal defect(ASD) guided by fluoroscopy and/or transesophageal echocardiography is a mature technology. Little study has focused on whether the technology can be guided totally by transthoracic echocardiography(TTE),even in pregnant women with ASD.AIM To evaluate the safety and efficacy of totally TTE guided transcatheter device closure of ASD in pregnant women.METHODS Six pregnant women(gestational age 20-26 wk) with ASD underwent transcatheter device closure totally guided by TTE at our cardiac center from January 2015 to August 2017. A routine transcatheter procedure without fluoroscopy or intubation and a domestic occluder were used in this study.RESULTS All patients had successful closure with good clinical results,and the overall immediate complete closure rate was 100%. The size of the occluder deployed ranged from 20 to 32 mm(26.7 ± 4.3 mm),the procedure time ranged from 30 to50 min(41.7 ± 7.5 min),and the length of hospital stay was 2-3 d(mean 2.2 ± 0.4 d). There were no serious cardiovascular related complications,and transient arrhythmias occurred in one patient during the procedure. During the follow-up period(3 mo to 2 years),no occluder dislodgement,residual fistulas,or thromboses occurred. All of the patients underwent vaginal delivery between 36 and 38 wk of gestation.CONCLUSION Totally TTE guided transcatheter device closure of ASD in pregnant women may be safe and effective.