Surgical Repair of Ventricular Septal Defect in Neonates: Indications and Outcomes

Background:The optimal surgical timing and clinical outcomes of ventricular septal defect(VSD)closure in neo-nates remain unclear.We aimed to evaluate the clinical outcomes of VSD closure in neonates(age≤30 days).Methods:We retrospectively reviewed 50 consecutive neonates who underwent VSD closure for isolated VSDs between August 2003 and June 2021.Indications for the procedure included congestive heart failure/failure to thrive and pulmonary hypertension.Major adverse events(MAEs)were defined as the composite of all-cause mortality,reoperation,persistent atrioventricular block,and significant(≥grade 2)valvular dysfunction.Results:The median age and body weight at operation were 26.0 days(interquartile range[IQR],18.8–28.3)and 3.7 kg(IQR,3.3–4.2),respectively.The median follow-up duration was 110.4 months(IQR,56.8–165.0).Seven patients required preoperative respiratory support,andfive had significant(≥grade 2)preoperative valvular dysfunction.One early mortality occurred due to irreversible cardiogenic shock;no late mortality was observed.One reopera-tion was due to hemodynamically significant residual VSD at 103.8 months postoperatively.The overall survival,freedom from reoperation,and freedom from MAE at 15-years were 98.0%,96.3%,and 94.4%,respectively.Pre-operative mechanical ventilation was associated with a longer duration of postoperative mechanical ventilation(p<0.001)and a longer length of intensive care unit stay(p<0.001).Conclusions:VSD closure with favorable outcomes without morbidities is feasible even in neonates.However,neonates requiring preoperative respiratory support may require careful postoperative management considering the long-term postoperative risks.Overall,surgical VSD closure might be indicated earlier in neonates with respiratory compromise.

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.

Outcomes of Transcatheter Closure in Outlet-Type Ventricular Septal Defect after 1 Year

Background:Ventricular septal defect(VSD)is the most common congenital heart disease.Transcatheter VSD closure is an effective treatment for patients with muscular and perimembranous VSD.However,there is a limit data for outlet VSD,especially impact to the aortic valve leaflet after transcatheter closure.This study aims to assess the outcomes of transcatheter closure of the outlet-type ventricular septal defect(OVSD)after 1 postoperative year.Methods:A retrospective study was performed including 50 patients who underwent transcatheter(n=25)and surgical(n=25)OVSD closure during the exact time frame at two medical centres.Results:The median age and body weight of patients in the transcatheter group were significantly higher than those of patients in the surgical group(7.0 vs.2.8 years;27.0 vs.11.4 kg;p<0.01).The defect size in the surgical group was significantly larger than that in the transcatheter group(5.0 vs.3.0 mm;p<0.01).All OVSD patients have successful transcatheter closure(100%)as effective as surgical closure.Less than small residual shunt was present 20%and 8%immediately after the procedure in the transcatheter and surgical groups(p=0.50),which decreased to 12%and 4%at the 1-year follow-up(p=0.61),respectively.No incidence of complete atrioventricular block and other complications was observed in both groups,and no significant differences were noted in the new onset or worsening of the aortic regurgitation in both groups(p=1.0).Conclusions:Transcatheter treatment could be effectively and safely achieved for OVSD closure at 1-year follow-up.

Transcatheter Ventricular Septal Defect Closure with Nit-Occlud LêVSD Device—Five Years’Experience and Literature Review

Introduction:Transcatheter closure is an alternative to ventricular septal defect(VSD)occlusion surgery.Nit-Occlud LêVSD coil is a new device yet to be evaluated.The study aimed to evaluate immediate and midterm results after transcatheter closure with the Nit-Occlud LêVSD device.Methods:The retrospective analysis included 30 patients with VSD referred for closure during the period from October 2015 to December 2020.Results:At the time of intervention,the patients’mean age and body weights were 7.5±5.6 years and 29.3±19.1 kg.The majority of the defects had perimembranous location(24/30),four defects had muscular and two outlet subaortic position.The mean effective right-side diameter of the VSDs was 3.6±1.3 mm.Single ventricular fibrillation,device embolization,and hemolysis developed in different patients and were successfully treated.None of the patients had a complete atrioventricular block.The coil was successfully placed in 25/30(83.3%)patients.The majority of the devices were 10 mm×6 mm(11/25)and 12 mm×8 mm(8/25)in size.Two patients required the implantation of a second device.The follow-up period was 2.1±1.4 years.Complete VSD closure was achieved in 48%of cases immediately after the intervention,74%during 2.1±1.6 months after the procedure,and 81%over follow-up.The remaining patients had a trivial residual defect.During the follow-up,approximately one-third of patients developed trivial aortic and mitral valve regurgitation,and half of the patients acquired trace/mild tricuspid regurgitation.Standardized(z-score)left ventricular end-diastolic diameter(0.15±0.37 vs.0.92±0.82,p=0.005)and left atrium dimension(0.47±0.58 vs.1.89±1.11,p=0.005),as well as the left atrium to aortic root ratio(1.2±0.1 vs.1.4±0.2,p=0.005)showed a significant decrease over follow-up related to the period before intervention.Conclusion:Intervention with Nit-Occlud
LêVSD coil showed appropriate results regarding VSD closure rate,complications,and chamber remodeling.The introduction of this device into clinical practice is a significant step forward in transcatheter perimembranous VSD occlusion.

Mortality Rates of Ventricular Septal Defect for Children in Kazakhstan: Spatio-Temporal Epidemiological Appraisal

Objective: The aim is to study the trends in ventricular septal defect (VSD) mortality in children in Kazakhstan.Methods: The retrospective study was done for the period 2011–2020. Descriptive and analytical methods of epidemiologywere applied. The universally acknowledged methodology used in sanitary statistics is used to calculatethe extensive, crude, and age-specific mortality rates. Results: Kazakhstan is thought to be seeing an increase inmortality from VSDs in children. As a result, this study for the years 2011 to 2020 was conducted to retrospectivelyassess data from the central registration of the Bureau of National Statistics that was available throughoutthe nation. Age-standardized mortality data were obtained and compared between age categories. It was shownthat 507 children died from this condition throughout the time period under study. The average annual standardizedmortality rate was 1.88 per 100,000 population and tended to decrease over time. The peak of mortality wasnoted at the age of up to 1 year, namely the neonatal period. Cartogram mortality rates were calculated usingstandardized indicators. Additionally, age-sex variations were taken into account when performing all calculations.Conclusion: In recent years, the death rate from VSD has declined from 1.5 to 0.6 per 100,000 people, withthe trend remaining constant (T = 1.4%, R^(2) = 0.5825). The analysis of mortality trends related to VSD is crucial inboth theoretical and practical aspects, as it enables early detection and treatment of VSDs. The findings of thisstudy will be valuable to public health authorities in developing a strategy to treat VSDs effectively.

Effects of General Anesthesia on the Results of Cardiac Catheterization in Pediatric Patients with Ventricular Septal Defect

Background:There is no gold standard sedation method for pediatric cardiac catheterization.In congenital heart diseases with intracardiac shunts,hemodynamic parameters are prone to change depending on the ventilation conditions and anesthetics,although few studies have examined these effects.The purpose of this study was to investigate the effects of two different sedation methods on the hemodynamic parameters.Methods:This study retrospectively evaluated consecutive patients with ventricular septal defect(VSD)below 1 year of age who underwent cardiac catheterization at Aichi Children’s Health and Medical Center,who were divided into age-and VSD diameter-matched general anesthesia(GA)and monitored anesthesia care(MAC)under the natural airway groups(n=40 each),for comparison of hemodynamic parameters.Results:In the GA group,arterial blood pH and arterial partial pressure of oxygen were significantly higher(p<0.01),whereas arterial partial pressure of carbon dioxide was significantly lower than in the MAC group(p<0.01).Mean pulmonary artery pressure(p<0.05)and systemic blood pressure(p<0.01)were lower in the GA group.Pulmonary vascular resistance index(p<0.01)and systemic vascular resistance index(p<0.01)were also significantly lower in the GA group than the MAC group.There were no significant differences in pulmonary blood flow index,systemic blood flow index,and pulmonary/systemic blood flow ratio between the two groups.Conclusions:Cardiac catheterization under GA in VSD patients results in different hemodynamic parameters compared to that under MAC.In particular,when using pulmonary artery pressure and pulmonary vascular resistance measured under GA for judgment regarding the surgical indications or perioperative management,consideration should be given to the fact that these parameters might be lower compared to those measured under MAC.

Effectiveness and Safety of Transcatheter Closure of Various Ventricular Septal Defects Using Second-Generation Amplatzer Duct Occluders

Objective:This study was designed to determine the long-term safety and efficacy of using the Amplatzer Duct Occluder II(ADO II)for the closure of various ventricular septal defects(VSDs).Methods:From January 2011 to December 2019,selected VSD patients were treated through transcatheter intervention using ADO II occluders.The closure results and complications from 188 patients,involving 167 perimembranous ventricular septal defects(pmVSDs),9 intracristal VSDs,11 post surgery residual shunts and 1 post closure residual shunt with the mean outlet diameter3.1±0.8 mm under angiography,were enrolled in this study.Results:The success rate was 98.9%for all procedures.During the median 77-month follow-up period,no cases of complete atrioventricular block(cAVB),infective endocarditis or death occurred.One major adverse event(0.5%)was recorded:cerebrovascular accident occurred 1 day after the procedure in one patient who was transferred to the neurology department.The residual shunt rate was 44.6%,which was the most common minor adverse event.The cardiac conduction block rate was 4.3%.Specifically,one pmVSD patient developed intermittent LBBB during the 28-month follow-up.There were 3 patients(1.6%)with new-onset mild tricuspid insufficiency,and the insufficiency degree was stable during follow-up.There was no new-onset aortic insufficiency that occurred.Conclusions:Transcatheter closure of pmVSDs,some intracristal VSDs,some postsurgery or postclosure residual shunts using ADO II occluders were both safe and effective and yielded excellent long-term results in selected patients.

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.

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.

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.

Effect of Left Ventricular Outflow on Flow ConvergenceRegion on the Left Septal Surface in Ventricular SeptalDefect

The corrected shunt flow rate (Fc ) and corrected defect orifice area (Ac) were calculated by modified equation F= 2πR2 ×(NL-VL.voT× Sinθ) in 23 patients with single membranous ventricular septal defect, in order to correct the ef fect of left ventricular outflow on flow convergence region on the left septa1 sur-face. The results indicated that F. was closely correlated with Qp -Q5. and Qp/Q5measured by pulsed wave Doppler (r = 0. 95 and r = 0. 81 respectively, P < 0.001 ). And the correlation between A. and the diameter of defect (Dd) rneasureddirectly in two-dimensional views was better than that between uncorrected defectorifice area (A ) and the Dd (r = O- 98 and O- 69, respectively, P< O. Ool ). Theshunt flow rate calculated by ideal equation F= 2ffR2 X NL overestimated the actu-al shunt flow rate in ventricular septal defect, especialIy in mernbranous type.Our study concluded that F. can be used for a more accurate eva1uation of theshunt severity of ventricular septal defect.

Transcatheter closure of ventricular septal defect in patients with aortic valve prolapse and mild aortic regurgitation:feasibility and preliminary outcome

Objective:To evaluate the feasibility,safety and efficacy of transcathcter closure of ventricular septal defect(VSD)in patients with aortic valve prolapse(AVP)and mild aortic regurgitation(AR).Methods:Between January 2008 and July 2014,transcatheter closure of VSD was attempted in 65 patients.Results:The total intermediate closure successful rate in all subjects was 96.9%.During the perioperative period,no death,major bleeding,pericardial tamponade,occluder dislodgement,residual shunt or hemolysis occurred.Two procedures had been forced to suspend due to significant aggregation of device related aortic regurgitation,three cases of transient complete left bundle branch block occurred but did not sustain.At 1-year followup,no patients had residual shunts and complications.Furthermore,grade of residual AR were relieved in 61.9%(39/63)cases and degree of AVP were ameliorated in 36.5%(23/63)patients;Conclusions:Transcatheter closure VSD in selected patients with AVP and mild AR is technically feasible and highly effective.Long term safety and efficacy needs to be assessed.

The role of echocardiography in mini-invasive surgical device closure of ventricular septal defect

Objective To assess the application of echocardiography in mini-invasive surgical device closure of ventricular septal defect (VSD) . Methods 73 VSD patients including 35 with aneurysm formation and among them 21 with multi-defects in the aneurysm were treated by mini-invasive device closure. A closure device was positioned to the defect through parasternal mini-incision in all patients. TEE was used to monitor the whole procedure。

Minimally Invasive Perventricular Device Closure of Ventricular Septal Defect: a Comparative Study in 80 Patients

Objective To evaluate the efficacy of minimally invasive perventricular device closure of ventricular septal defect(VSD). Methods Between September 2011 and February 2013, we collected 40 patients who underwent perventricular closure via a small lower sternal incision(minimally invasive group), aged 15.5±3.5 years(12 months to 32 years) with a body weight of 24.2±7.5 kg(10.8-58.0 kg). The mean size of VSD was 5.6±0.5 mm(2-14 mm). Another 40 patients were included as the surgical group, receiving the conventional surgical repair of VSD. The device of the minimally invasive group was released under the guidance of transesophageal echocardiography. Success rate, cardiac indicators, and clinical outcomes of the 2 groups were compared. Results The patients in the surgical group and those in the minimally invasive group showed similar results in success rate(both 97.5%). The procedure time, intensive care unit stay, hospital stay, and postoperative recovery time in the minimally invasive group were significantly shorter than those in the surgical group(58±21 minutes versus 145±26 minutes, 2±1 days versus 8±3 days, 5±1 days versus 16±6 days, 3±1 days versus 90±20 days, all P<0.05). The minimally invasive group had a higher incidence of conduction anomalies(17.5% versus 2.5%, P<0.05). In the follow-up period of 3-12 months, there was no new residual shunt, noticeable aortic regurgitation, significant arrhythmias, or device failure except for new complications in the surgical group. Conclusions The success rate of minimally invasive perventricular device closure of VSD under transesophageal echocardiography guidance is similar to that of conventional surgical repair, but the short-term outcomes of the minimally invasive approach is much better. Long-term follow-up is necessary to confirm the effectiveness of this technique.

Clinical study of transcatheter occlusion in treating ventricular septal defect combined with right coronary cusp bulge

Background: Perimembranous ventricular septal defect combined with right coronary cusp bulge generally should be treated with surgical thoracotomy, owing to the potential aortic regurgitation. However, the minimally invasive method of transcatheter closure has always attracted the attention of cardiologists and patients. The present study aimed to apply transcatheter occlusion in treating ventricular septal defect with right coronary cusp bulge and further evaluate the clinical effect through follow-up. Materials and methods: A total of 40 children diagnosed as having a ventricular septal defect with right coronary cusp bulge, examined using transthoracic echocardiography and cardiovascular angiography, were enrolled in this study. The ventricular septal defects were closed by placing occluders through transcatheter occlusion treatment. During the operation process, the children underwent angiography and transthoracic echocardiography examinations to check the position of the occlude and the extent of aortic regurgitation. The influence of occlusion on the conduction system was evaluated using a surface electrocardiogram. The children were followed up after their procedures. Results: All 40 patients were immediately and successfully occluded. Three patients with filament residual shunts were observed during the operations. No major surgical complications occurred during the perioperative period. During the follow-up period, the positions of all the occluders were good, the residual shunts in the three patients disappeared, and no new or aggravated aortic regurgitation occurred. Electrocardiogram did not reveal any atrioventricular blocks. Only one patient suffered from an incomplete right bundle branch block. Conclusions: Children diagnosed with ventricular septal defect combined with right coronary cusp bulge could be considered for transcatheter occlusion. With appropriate indications and methods, the effect may be favorable.

Safety of an improved patent ductus arteriosus occluder for transcatheter closure of perimembranous ventricular septal defects with abnormally attached tricuspid chordae tendineae

BACKGROUND The off-label use of various devices has been reported for the transcatheter closure of perimembranous ventricular septal defects(PmVSD) because of serious complications, such as heart block and tricuspid regurgitation(TR),associated with conventional ventricular septal defect devices. However, whether certain defects such as PmVSD with abnormally attached tricuspid are fit for interventional treatment is still disputable.AIM To explore the feasibility and safety of transcatheter closure of PmVSD with abnormally attached tricuspid chordae tendineae using an improved patent ductus arteriosus(PDA) occluder.METHODS We retrospectively analyzed 20 patients diagnosed with PmVSD with abnormally attached tricuspid chordae tendineae who underwent interventional treatment using an improved PDA occluder at our center from January 2012 to January 2016. Baseline characteristics and procedural and follow-up data were analyzed.RESULTS All 20 patients achieved procedure success. No heart block occurred during the operation. One patient had a transient complete right bundle branch block within48 h post-procedure and reverted to normal rhythm after intravenous injections of dexamethasone for 3 d. For all 20 patients, no residual shunt was observed by transthoracic echocardiography post-procedure. During the average follow-up period of 2.4 years, no severe TR was observed.CONCLUSION Using of the improved PDA occluder for the transcatheter closure of PmVSD with abnormally attached tricuspid chordae tendineae is a safe and promising treatment option. However, long-term follow-up in a large group of patients is still warranted.

Safety and efficacy of amplatzer duct occluder for percutaneous closure of ventricular septal defects with tunnel shape aneurysm: Medium term follow up

Objectives: Different devices including Amplatzer duct occluder has been used for percutaneous closure of ventricular septal defects. This study reports our medium term follow up of perimembranous and muscular ventricular septal defects with tunnel shape aneurysm closure using the Amplatzer duct occluder. Materials and Methods: From May 2006-December 2012, we used Amplatzer duct occluder in seven ventricular septal defect patients here atHamad General Hospital,Doha,Qatar. There were 4 male and 3 female patients with an age range of 4 - 32 years with a median of 8 years and weight range of 16 - 63 kgwith a median of33 kg. In this group, 6 were perimembranous and 1 muscular and all these ventricular septal defects had a tunnel shape aneurysm. Transesophageal echocardiographic diameter ranged from 4 - 8 mmand Qp/Qs was 1 - 1.6. Angiographically, the diameter on the left ventricular side measured 3.5 - 10 mmand on right ventricular side 2.4?- 5 mm. 8/6 mmAmplatzer duct occluder was used to close these ventricular septal defects. Results: There were no major complications and immediately after the procedure there was no residual shunt in any of these patients and all the patients remained in normal sinus rhythm. One patient was expatriate and no further follow up was available. The rest of the 6 patients had 1 - 80 months with a median of 54 months follow up and none of these patients had any residual shunt and all remained in normal sinus rhythm. Two patients developed trivial aortic valve regurgitation immediate post procedure, one remained unchanged and the 2nd has progressed to mild at this latest follow up. Conclusion: Amplatzer duct occluder is feasible and a safe device for percutaneous closure of selective tunnel shape aneurysmal perimembranous and muscular ventricular septal defects.

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.

Noncoronary sinus of Valsalva rupture into the right atrium with a coexisting perimembranous ventricular septal defect

Ruptured sinus of Valsalva is very uncommon,and is < 1% of all congenital defects.The incidence ranges from 0.1%-3.5%.There is a male to female predominance of 4:1,with the highest incidence in the Asian population.Higher incidence is also seen in patients with Marfan's syndrome and Ehlers Danlos syndrome.There is a higher association of ruptured sinus of Valsalva with ventricular septal defect(VSD),aortic stenosis,and bicuspid valve defect.While most patients with VSD often have rupture of their right coronary sinus of Valsalva into the right ventricle due to poor structural integrity,we present a rare case of a patient with VSD who had rupture of his noncoronary sinus of Valsalva into the right atrium.

Mutational screening of affected cardiac tissues and peripheral blood cells identified novel somatic mutations in GATA4 in patients with ventricular septal defect

The aim of this study was to examine how somatic mutations of the GATA4 gene contributed to the genesis of ventricular septal defect （VSD）. The coding and intron-exon boundary regions of GATA4 were sequenced of DNA samples from peripheral blood cells and cardiac tissues of twenty surgically treated probands with VSD. Seven novel heterozygous variants were detected in cardiac tissues from VSD patients, but they were not detected in the peripheral blood cells of VSD patients or in 500 healthy control samples. We replicated 14 single nucleotide polymorphisms （SNPs） reported in NCBI. Bioinformatics analysis was performed to analyze the possible mechanism by which mutations were linked to VSD. Among those variants, c. 1004C〉A （p.S335X） occurred in the highly conserved domain of GATA4 and generated a termination codon, which led to the production of truncated GATA4. The seven novel heterozygous GATA4 mutations were only identified in cardiac tissues with VSD, suggesting that they are of somatic origin. A higher mutation rate in cardiac tissues than in peripheral blood cells implies that the genetic contribution to VSD may have been underestimated.