Simultaneous ramp right heart catheterization and echocardiography in a Reliant Heart left ventricular assist device

Many clinicians caring for patients with continuous flow left ventricular assist devices(CF-LVAD) use ramp right heart catheterization(RHC) studies to optimize pump speed and also to troubleshoot CF-LVAD malfunction. An investigational device,the Reliant Heart Heart Assist 5(Houston,TX),provides the added benefit of an ultrasonic flow probe on the outflow graft that directly measures flow through the CF-LVAD. We performed a simultaneous ramp RHC and echocardiogram on a patient who received the above CF-LVAD to optimize pump parameters and investigate elevated flow through the CF-LVAD as measured by the flow probe. We found that the patient's hemodynamics were optimized at their baseline pump speed,and that the measured cardiac output via the Fick principle was lower than that measured by the flow probe. Right heart catheterization may be useful to investigate discrepancies between flow measured by a CF-LVAD and a patient's clinical presentation,particularly in investigational devices where little clinical experience exists. More data is needed to elucidate the correlation between the flow measured by an ultrasonic probe and cardiac output as measured by RHC.

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.

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.

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.

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.

Leiomyosarcoma with coronary fistulae and ventricular septal perforation： A case study

Coronary fistulae and ventricular septal perforation are very rare clinically, and even less caused by cardiac leiomyosarcoma. A case is reported that a 67-year-old female had cardiac leiomyosarcoma with progressive heart failure and coronary fistulae and ventricular septal perforation. This case was special since all ante-mortem examinations and cardiac surgery failed to detect the presence of any abnormal car-diac mass. Therefore, the malignant cardiac tumors could appear in an invasive form without mass and be one of the causes of the coronary fistulae and ventricular septal perforation.

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.

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.

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.

Transient ventricular arrhythmia as a rare cause of dizziness during exercise:A case report

BACKGROUND Dizziness is a common symptom in adults and usually due to peripheral causes affecting semicircular canal function or central causes affecting the pons,medulla,or cerebellum.Arrhythmia is a recognized cause of dizziness in people with structural or ischemic heart disease.We report a case of exercise-induced transient ventricular tachycardia and dizziness in a man with no evidence of organic heart disease.CASE SUMMARY A 42-year-old man presented with a 6 mo history of transient exercise-induced dizziness and prodromal palpitations.The patient was otherwise asymptomatic.Physical examination,otoscopy,vestibular tests,cerebellar tests,laboratory investigations,and imaging investigations were all unremarkable.Twenty-four hour Holter monitoring revealed four episodes of transient ventricular tachycardia during exercise.The patient was started on metoprolol and subsequently underwent radiofrequency catheter ablation.The patient reported a full recovery and no dizziness during daily activities.These results were maintained at the 6 mo follow-up.CONCLUSION Ventricular tachycardia is an uncommon but potentially serious cause of dizziness.The outcome of this case illustrates the benefits of careful clinical examination and communication with specialized centers.High clinical suspicion of arrhythmia in a patient with dizziness merits consultation with a cardiologist and referral to a specialized center to ensure timely diagnosis and treatment.

HRV changes before and after radiofrequency ablation in patients with different origin of right ventricular outflow tract ventricular premature contraction

Objective:To observe the HRV changes before and after the radiofrequency current catheter ablationventricular premature beats originated from different site of right ventricular outflow tract.Methods:A total of 102 patients with frequent RVOT-VPC admitted to our hospital were accepted radiofrequency current catheter ablation (RF). According to the origin of RVOT-VPC, it was divided into 2 groups, one is from ventricular septum, and the other one is from free wall, and in each group, male and female are observed separately.Results:(1) HRV before RF ablation: 1) rMSSD in the female patients with RVOT-VPC from free wall was significantly lower than those from septum;2) frequency domain index (W, LF) were higher than normal range, and in male patients, LF/HF<1 were found, but in female patients, LF/HF>1. (2) HRV after RF ablation: 1) Significant changes were found in female patients with RVOT-VPC from septum, rMSSD, PNN50, HF and LF decreased;2) In female patients with RVOT-VPC from free wall, rMSSD decreased;3) In male patients, there were no significant HRV changes found before and after RF ablation. (3) Heart rate changes: 1) In female patients with RVOT-VPC from septum, heart rate decreased significantly ((76.47±9.47) bpm vs (69.29±14.59) bpm)2) No significant changes were found in male patients.Conclusion:In patients with RVOT-PVC sympathetic and vagus excitability increased, and after catheter ablation, in female patients with RVOT-PVC originated from septum, the HRV index relating to sympathetic and vagus excitability significantly decreased.

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.

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.

Transcatheter closure of perimembranous ventricular septal defects by a new Amplatzer membranous ventricular septal defect occluder： a single center study in Beijing

Transcatheter closure of congenital perimembranous ventricular septal defect （VSD） has always been a problem for cardiologists in the past decade because of the risks for interference with the valves and conduction system. Some devices designed for other lesions have been used for closure of perimembranous VSD,^1-3 but the result is unsatisfactory because they are difficult to use and have a high incidence of complications. Until 2002,

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.

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.

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.

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.