Congenital Ventricular Septal Defect Research Articles

Differential diagnosis of congenital ventricular septal defect and atrial septal defect in children using deep learning–based analysis of chest radiographs

BackgroundChildren with atrial septal defect (ASD) and ventricular septal defect (VSD) are frequently examined for respiratory symptoms, even when the underlying disease is not found. Chest radiographs often serve as the primary imaging modality. It is crucial to differentiate between ASD and VSD due to their distinct treatment.PurposeTo assess whether deep learning analysis of chest radiographs can more effectively differentiate between ASD and VSD in children.MethodsIn this retrospective study, chest radiographs and corresponding radiology reports from 1,194 patients were analyzed. The cases were categorized into a training set and a validation set, comprising 480 cases of ASD and 480 cases of VSD, and a test set with 115 cases of ASD and 119 cases of VSD. Four deep learning network models—ResNet-CBAM, InceptionV3, EfficientNet, and ViT—were developed for training, and a fivefold cross-validation method was employed to optimize the models. Receiver operating characteristic (ROC) curve analyses were conducted to assess the performance of each model. The most effective algorithm was compared with the interpretations provided by two radiologists on 234 images from the test group.ResultsThe average accuracy, sensitivity, and specificity of the four deep learning models in the differential diagnosis of VSD and ASD were higher than 70%. The AUC values of ResNet-CBAM, IncepetionV3, EfficientNet, and ViT were 0.87, 0.91, 0.90, and 0.66, respectively. Statistical analysis showed that the differential diagnosis efficiency of InceptionV3 was the highest, reaching 87% classification accuracy. The accuracy of InceptionV3 in the differential diagnosis of VSD and ASD was higher than that of the radiologists.ConclusionsDeep learning methods such as IncepetionV3 based on chest radiographs in the study showed good performance for differential diagnosis of congenital VSD and ASD, which may be able to assist radiologists in diagnosis, education, and training, and reduce missed diagnosis and misdiagnosis.

Optimizing Object Detection Algorithms for Congenital Heart Diseases in Echocardiography: Exploring Bounding Box Sizes and Data Augmentation Techniques.

Congenital heart diseases (CHDs), particularly atrial and ventricular septal defects, pose significant health risks and common challenges in detection via echocardiography. Doctors often employ the cardiac structural information during the diagnostic process. However, prior CHD research has not determined the influence of including cardiac structural information during the labeling process and the application of data augmentation techniques. This study utilizes advanced artificial intelligence (AI)-driven object detection frameworks, specifically You Look Only Once (YOLO)v5, YOLOv7, and YOLOv9, to assess the impact of including cardiac structural information and data augmentation techniques on the identification of septal defects in echocardiographic images. The experimental results reveal that different labeling strategies substantially affect the performance of the detection models. Notably, adjustments in bounding box dimensions and the inclusion of cardiac structural details in the annotations are key factors influencing the accuracy of the model. The application of deep learning techniques in echocardiography enhances the precision of detecting septal heart defects. This study confirms that careful annotation of imaging data is crucial for optimizing the performance of object detection algorithms in medical imaging. These findings suggest potential pathways for refining AI applications in diagnostic cardiology studies.

HoloPatch: improving intracardiac patch fit through holographically modelled templates.

Structural heart defects, including congenital ventricular septal defect closure or intracardiac rerouting, frequently require surgical reconstruction using hand-cut patch materials. Digitally modelled patch templates may improve patch fit and reduce outflow tract obstruction, residual defect risk, and conduction system damage. In this study, we benchmarked mixed-reality and a desktop application against a digitalized model of a real implanted patch. Ten patients scheduled for the repair of various defects consented to prospective inclusion in the study. After surgery, a digital model of the implanted patch was created from the residual material. Five clinical experts created 10 digital patches, 1 per patient, both in mixed-reality and desktop application, for comparison with the reference measurements, including the digitalized model of the real patch used during the surgery. Subjective residual shunt risk prediction was performed using both modalities. Digital patches created in mixed-reality closely matched the surgical material, whereas those created using desktop applications were significantly smaller. Different evaluators showed varying preferences for the application of the residual shunt risk and area. Digitally created patches can assist surgeons in preoperatively sizing of patch implants, potentially reducing post-operative complications.

Psychiatric morbidity and work participation in patients with congenital ventricular septal defects: a case-controlled study.

The burden of psychiatric morbidity, level of education, and work participation are currently unknown in patients with congenital ventricular septal defects (VSD). In a Danish population-based cohort study using nationwide medical registries, the burden of psychiatric disorders, use of psychotropic agents, level of education, and work participation were examined in patients with isolated congenital VSD and controls from the general population matched by age and sex. Subjects with known chromosomal abnormalities were excluded. To compute estimates, Cox proportional regression model, Fine and Gray's competing risk regression, and Kaplan-Meier failure function were used. We included 8006 patients and 79568 controls born before 2018. Median follow-up was 23 years. Compared with controls, patients with VSD displayed a hazard ratio (HR) of 1.24 [95% confidence interval (CI): 1.17-1.32] for any psychiatric disorder where the hazard for intellectual disabilities was most pronounced [HR of 3.66 (95% CI: 2.98-4.50)]. The use of psychotropic agents was higher in patients compared with controls [HR 1.14 (95% CI: 1.09-1.20)]. The work participation was lower in patients with VSD compared with controls (P<0.001) and was lower in patients with VSD with a psychiatric disorder compared with those without (P<0.001). The 40-year cumulative incidence of permanent social security benefits was 29% in patients with psychiatric disorders (vs. 21% in controls with psychiatric disorders) and 8% in patients without psychiatric disorders (vs. 4% in controls). Patients with isolated VSD suffer from a higher burden of psychiatric disorders and display lower work participation compared with matched controls from the general Danish population. It is important to consider longer-term impacts on mental health, education, and subsequent employment in patients with VSD, in addition to cardiovascular effects, as these factors severely affect quality of life and have direct socioeconomic implications on an individual and societal level.

Prevalence and factors associated with spontaneous closure of congenital ventricular septal defects

Prevalence and factors associated with spontaneous closure of congenital ventricular septal defects

Valsalva sinus aneurysm leading to spontaneous closure in congenital ventricular septal defect

Valsalva sinus aneurysm leading to spontaneous closure in congenital ventricular septal defect

The mid-term outcomes of aortic root replacement after surgical repair for CHD.

The purpose of this study is to assess the mid-term outcomes of aortic root replacement after repair of CHDs. This is a single-institutional retrospective, cohort study with consecutive patients undergoing aortic root replacement after surgical repair of CHDs between 1999 and 2022. Operative indications included aortic root dilatation with/without aortic insufficiency, sinus of Valsalva rupture, or aortic dissection involving the root. Forty-four patients (36 male and 8 female) were enrolled. Mean age at the root replacement was 36.6 ± 11.9 years. The most frequent primary diagnosis was congenital aortic stenosis (n = 10) and ventricular septal defect (n = 10). Mean time from the surgical repair to aortic root replacement was 26.6 ± 13.0 years. Operative indications were aortic root enlargement with or without aortic valve aetiology (n = 40), sinus of Valsalva rupture (n = 2), and aortic dissection (n = 2). Forty-two patients underwent valve-replacing aortic root replacement, and two patients underwent valve-sparing, with 40 concomitant procedures. The median follow-up was 3.5 (1.3-7.6) years. There were one early and five late mortalities and five cardiovascular-related reoperations. Actuarial survival at 5-10 years after root replacement was 81.0 ± 6.6%. The cumulative incidence of cardiovascular-related reoperation and aortic root or valve-related reoperation at 5 years after root replacement was 11.9% and 5.6%, respectively. The early and mid-term outcomes of aortic root replacement for patients with a history of repair of CHDs were favourable in terms of survival and aortic root or valve-related reoperation.

Ruptured sinus of Valsalva aneurysm coexisted with congenital ventricular septal defect: a case series

BackgroundRuptured sinus of Valsalva aneurysm (RSoVA) is an uncommon cardiac anomaly that may occasionally coexist with additional congenital heart disease (CHD). The presence of such congenital cardiac anomalies, frequently involving a ventricular septal defect (VSD), is of significant clinical importance and warrants vigilant detection during echocardiographic assessments to prevent oversight.Case presentationThree cases of RSoVA accompanied by VSD are presented in which all patients manifested symptoms of shortness of breath (SOB). In the first patient, right and left heart catheterization was undertaken; however, the images failed to reveal any evidence of VSD flow due to the occlusion of a small VSD by the prolapsed right coronary cusp (RCC). Prior to surgical intervention, multimodal imaging was conducted, revealing the presence of RSoVA extending into the right ventricle (RV) along with the VSD. The second patient had a prior childhood diagnosis of VSD but had not undergone further medical intervention. Transoesophageal echocardiography (TEE) was subsequently performed, identifying the presence of RSoVA, a small VSD, and valvular heart disease. The third patient presented with heart failure, exacerbated during her second pregnancy. TEE was also administered to this patient, revealing the presence of RSoVA accompanied by a small subaortic VSD with a left-to-right shunt. All three patients were scheduled for surgical repair of the ruptured sinus of Valsalva and closure of the VSD.ConclusionsThe coexistence of RSoVA and CHD, typically VSD, is frequently observed in patients experiencing symptoms of SOB. Recognizing the presence of CHD in individuals with RSoVA is of paramount importance, as it can significantly influence their medical management and treatment strategies.

Ventricular septal defect in octogenarian: a case report

It is not a common case that we see in our day-to-day clinical practice, a patient presenting with congenital VSD at the age of eighty. Ventricular septal defect (VSD) is a developmental defect of the interventricular septum resulting from a deficiency of growth or a failure of alignment or fusion of component parts of ventricular septum.1Ventricular septal defects are the most common form of congenital heart disease and among the most frequently seen congenital abnormalities.2Perimembranous defects are the most common types of ventricular septal defects and account for 80% of such defects.3It is estimated that 25–40% of VSDs will close by the age of 2 years, and they are unlikely to persist after the age of 10 years; thus adults with congenital heart disease, VSDs represent only about 10% of the cases.4

Incidence and risk factors of congenital ventricular septal defect in Qingdao

Objective: To analyze the incidence and risk factors of ventricular septal defect (VSD) in Qingdao. Methods: A prospective cohort study design was used to include pregnant women who underwent prenatal screening in Qingdao between August 2018 and June 2020 (the whole population coverage). VSD was diagnosed according to the pulse oxygen saturation and heart auscultation, and the final diagnosis was made according to the echocardiography of VSD positive newborns within postnatal day 7. Results: The study included 115 238 live births, among which 388 were diagnosed as VSD, with an incidence of 3.37‰. The results of multivariate logistic regression analysis showed that mother with postgraduate level (OR=1.61, 95%CI: 1.00-2.58, P=0.049) (compared with junior high school and below), preterm birth history (OR=2.90, 95%CI: 1.47-5.70, P=0.002), and pregnancy history of congenital heart disease (OR=5.98, 95%CI: 2.63-14.73, P<0.001) were risk factors for VSD. Compared with female infants, the overall risk of VSD in male infants was relatively low (OR=0.74, 95%CI: 0.60-0.91, P=0.005). Conclusions: The incidence of VSD in Qingdao is 3.37‰. The risk factors of VSD include higher maternal education level, pregnancy history of congenital heart disease and preterm birth history. Moreover, the overall risk of VSD in male infants is low.

Successful Repair of Congenital Morgagni Hernia and Ventricular Septal Defect via Median Sternotomy in a Patient with Down Syndrome, Anal Atresia, Pectus Carinatum and Congenital Hypothyroidism

Successful Repair of Congenital Morgagni Hernia and Ventricular Septal Defect via Median Sternotomy in a Patient with Down Syndrome, Anal Atresia, Pectus Carinatum and Congenital Hypothyroidism

Wandering Bundles With Sinus Arrhythmia

A 3-year-old boy with congenital ventricular septal defect underwent a closure procedure. Telemetry after the procedure reveals sinus arrhythmia with varying types of bundle branch blocks. Inverse decremental conduction in left posterior fascicle, related to preceding RP interval during sinus arrhythmia, underlies changes between right and left bundle branch blocks. (Level of Difficulty: Advanced.)

Progressive Right Ventricular Obstruction Caused by a Double-Chambered Right Ventricle Resulting in Shunt-Reversal via a Concomitant Congenital Ventricular Septal Defect and Subsequent Erythrocytosis in a Dog

A 3-year-old Chihuahua was presented because of exercise intolerance, respiratory distress, and syncopal episodes. At the age of 10 weeks, the dog was diagnosed with a congenital small left-to-right shunting ventricular septal defect and a mild right ventricular outflow tract obstruction via echocardiography. At that time, the dog was asymptomatic, but the breeder's veterinarian heard a murmur. Both cardiac defects were judged to be clinically non-relevant at that time. However, at 3 years of age, echocardiography revealed a severe right ventricular obstruction, known as a double-chambered right ventricle, along with right-to-left shunting via the ventricular septal defect. Because of chronic hypoxemia due to the right-to-left shunting, erythrocytosis developed. Flow reversal via the shunt was caused by a progressively worsening right ventricular obstruction leading to a supra-systemic right ventricular systolic pressure. Because of the poor prognosis, the dog was euthanized, and the heart was submitted for post-mortem examination. Gross pathologic findings revealed the close proximity of the right ventricular obstructive lesion to the ventricular septal defect. Histopathology revealed localized muscular hypertrophy and severe endocardial fibrosis. The suspected pathogenesis of the progressive obstruction was infiltrative myocardial fibrosis due to turbulent blood flow from the left-to-right shunting ventricular septal defect, as described in humans.

Application Value of Plasma vWF and ADAMTS-13 in Evaluating Postoprative Vascular Endothelial Injury and Prognosis in Children with VSD

To dynamically observe the levels and activities of von Willebrand factor (vWF) and ADAMTS-13 (a disintegrin and metalloproteinase with a thrombospondin type 1 motif, member 13) in plasma of children with congenital ventricular septal defect (VSD) during perioperative period, and explore the value of plasma vWF antigen (vWF:Ag) and ADAMTS-13 activity (ADAMTS-13: AC) in evaluating vascular endothelial injury and prognosis in children with VSD. In this cross-sectional study, a total of 74 children with VSD who underwent surgical treatment in TEDA International Cardiovascular Hospital from September 2018 to March 2019 were enrolled in the observation group. Among them, there were 28 cases of pure VSD, 32 cases of VSD combined with pulmonary hypertension, and 14 cases of VSD combined with valvular heart disease. 31 healthy children who underwent physical examination in Tianjin Children's Hospital during the same period were collected as the control group. The biochemical indexes of the children at admission were recorded. Peripheral plasma was collected at admission, postsurgery day 0 and day 1, respectively, and the levels of vWF activity (vWF:AC), vWF:Ag, ADAMTS-13 antigen (ADAMTS-13:Ag) and ADAMTS-13:AC were detected. The level of plasma vWF:Ag and vWF:AC in the observation group before surgery were significantly lower than those in the control group (P<0.001), and increased continuously, on postsurgery day 0 and day 1 (P<0.001). The level of ADAMTS-13:Ag in the observation group before surgery was significantly higher than that in the control group (P<0.001), which decreased significantly on postsurgery day 0 (P<0.001), and increased significantly on postsurgery day 1 compared with postsurgery day 0 (P=0.033). The level of ADAMTS-13:AC in the observation group before surgery was significantly lower than that in the control group (P=0.015), which decreased significantly on postsurgery day 0 (P=0.037), and increased on postsurgery day 1, but the difference was not statistically significant (P=0.051). The changes of vWF and ADAMTS-13 in the three subgroups were basically similar to the observation group. vWF: Ag/ADAMTS-13: AC ratio on postsurgery day 0 and day 1 had high diagnostic value in vascular endothelial injury (AUC=0.80, P<0.001; AUC=0.93, P<0.001). Preoperative vWF and ADAMTS-13 levels, and related baseline indicators were not correlated with postoperative infection, bleeding, thrombosis,etc. Preoperative vWF: Ag, vWF: AC and ADAMTS-13: AC levels in children with VSD are low, while the level of ADAMTS-13: Ag is high. After surgery, the levels of vWF: Ag and vWF: AC are increased and the level of ADAMTS-13: Ag is decreased. The postoperative vWF: Ag/ADAMTS-13: AC ratio shows high diagnostic value in evaluating vascular endothelial injury. There is no correlation between preoperative vWF and ADAMTS-13 levels with perioperative clinical events.

Percutaneous Transcatheter Closure of Congenital Ventricular Septal Defects.

Ventricular septal defects (VSDs) are the most common kind of congenital heart disease and, if indicated, surgical closure has been accepted as a gold-standard treatment. However, as less-invasive methods are preferred, percutaneous device closure has been developed. After the first VSD closure was performed percutaneously by Lock in 1988, both techniques and devices have developed consistently. A perventricular approach for closure of muscular VSD in small patients and the closure of perimembranous VSD using off-label devices are key remarkable developments. Even though the Amplatzer membranous VSD occluder (Abbott) could not be approved for use due to the high complete atrioventricular conduction block rate, other new devices have shown good results for closure of perimembranous VSDs. However, the transcatheter technique is slightly complicated to perform, and concerns about conduction problems after VSD closure with devices remain. There have been a few reports demonstrating successful closure of subarterial-type VSDs with Amplatzer devices, but long-term issues involving aortic valve damage have not been explored yet. In conclusion, transcatheter VSD closure should be accepted as being as effective and safe as surgery but should only be performed by experienced persons and in specialized institutes because the procedure is complex and requires different techniques. To avoid serious complications, identifying appropriate patient candidates for device closure before the procedure is very important.

Lifetime Burden of Morbidity in Patients With Isolated Congenital Ventricular Septal Defect.

Background The lifetime burden of morbidity in patients with isolated congenital ventricular septal defect (VSD) is not completely described. Methods and Results In a population-based cohort study in Denmark using nationwide medical registries, we included 8006 patients diagnosed with a congenital VSD before 2018 along with 79 568 randomly selected controls from the general Danish population matched by birth year and sex. Concomitant congenital cardiac malformations and chromosomal abnormalities were excluded. Cox proportional hazard regression, Fine and Gray competing risk regression, and Kaplan-Meier survival function were used to estimate burden of morbidity, compared with matched controls. Median follow-up was 23 years (interquartile range, 11-37 years). The hazard ratio (HR) of heart failure was high in both patients with unrepaired and surgically closed VSD when compared with their corresponding matched controls (5.4 [95% CI, 4.6-6.3] and 30.5 [95% CI, 21.8-42.7], respectively). Truncated analyses with time from birth until 1 year after VSD diagnosis (unrepaired) or surgery (surgically closed) censored revealed reduced but persisting late hazard of heart failure. Similarly, the late hazard of arrhythmias and pulmonary arterial hypertension was high irrespective of defect closure. The HR of endocarditis was 28.0 (95% CI, 19.2-40.9) in patients with unrepaired defect and 82.7 (95% CI, 37.5-183.2) in patients with surgically closed defect. The increased HR diminished after VSD surgery. In general, the incidence of morbidity among patients with unrepaired VSD accelerated after the age of 40 years. Conclusions Patients with isolated congenital VSD carry a substantial burden of cardiovascular morbidity throughout life, irrespective of defect closure.

Survival of patients with congenital ventricular septal defect.

The long-term survival of patients with isolated congenital ventricular septal defect (VSD) is not well described. The aim of this study was to describe the survival of a national cohort of patients with VSD compared with the general population. Using Danish nationwide medical registries, all patients diagnosed with congenital VSD (n = 9,136) in the period 1977-2018 were included. Patients with chromosomal abnormalities and concomitant congenital cardiac malformations other than atrial septal defect were excluded. Each patient was matched by birthyear and sex with ten controls from the general Danish population. Kaplan-Meier survival function and Cox proportional hazard regression were used to compute survival and mortality risk. Median follow-up was 22 years (interquartile range: 11-37). VSD patients displayed lower survival (P<0.001) yielding a hazard ratio (HR) for mortality of 2.7 [95% confidence interval (CI): 2.4-3.0] compared with matched controls. The adjusted HR for mortality among patients with unrepaired VSD was 2.7 (95% CI: 2.4-3.0) and 2.8 (95% CI: 2.1-3.7) for patients with surgically closed VSD. Stratified by era of VSD diagnosis, the HR for mortality was 3.2 (95% CI: 2.8-3.7) for unrepaired patients diagnosed before 1990 and 2.4 (95% CI: 2.0-2.7) for patients diagnosed later. Cardiac-related death was the commonest cause of death among unrepaired (30%) and surgically closed (65%) patients. Patients with VSD had lower survival compared with the general population. The HR for mortality was increased over 2.5-fold in patients with unrepaired defect (Eisenmenger syndrome excluded) and over 1.5-fold in patients with surgically closed defect (excluding surgical mortality).

Human phenotype ontology annotation and cluster analysis for pulmonary atresia to unravel clinical outcomes.

BackgroundPulmonary atresia (PA) is a heterogeneous congenital heart defect and ventricular septal defect (VSD) is the most vital factor for the conventional classification of PA patients. The simple dichotomy could not fully describe the cardiac morphologies and pathophysiology in such a complex disease. We utilized the Human Phenotype Ontology (HPO) database to explore the phenotypic patterns of PA and the phenotypic influence on prognosis.MethodsWe recruited 786 patients with diagnoses of PA between 2008 and 2016 at Fuwai Hospital. According to cardiovascular phenotypes of patients, we retrieved 52 HPO terms for further analyses. The patients were classified into three clusters based on unsupervised hierarchical clustering. We used Kaplan–Meier curves to estimate survival, the log-rank test to compare survival between clusters, and univariate and multivariate Cox proportional hazards regression modeling to investigate potential risk factors.ResultsAccording to HPO term distribution, we observed significant differences of morphological abnormalities in 3 clusters. We defined cluster 1 as being associated with Tetralogy of Fallot (TOF), VSD, right ventricular hypertrophy (RVH), and aortopulmonary collateral arteries (ACA). ACA was not included in the cluster classification because it was not an HPO term. Cluster 2 was associated with hypoplastic right heart (HRH), atrial septal defect (ASD) and tricuspid disease as the main morphological abnormalities. Cluster 3 presented higher frequency of single ventricle (SV), dextrocardia, and common atrium (CA). The mortality rate in cluster 1 was significantly lower than the rates in cluster 2 and 3 (p = 0.04). Multivariable analysis revealed that abnormal atrioventricular connection (AAC, p = 0.011) and persistent left superior vena cava (LSVC, p = 0.003) were associated with an increased risk of mortality.ConclusionsOur study reported a large cohort with clinical phenotypic, surgical strategy and long time follow-up. In addition, we provided a precise classification and successfully risk stratification for patients with PA.

Midterm Results Comparing Perventricular Device Closure with Surgical Repair for Isolated Congenital Ventricular Septal Defects: A Systematic Review and Meta-Analysis.

This systematic review and meta-analysis aimed at comparing the midterm outcomes of perventricular device closure (PDC) with conventional surgical repair (CSR) for VSD. PubMed, Cochrane Library, and Web of Science databases were searched from January 1, 2005, to October 15, 2020, for English or Chinese language studies comparing outcomes of PDC with CSR for VSD. The midterm results were assessed as a primary outcome. A systematic review and meta-analysis was performed under the frequentist frame with risk ratio (RR) and 95% confidence interval (CI). A total of 4381 patients (PDC = 2016, CSR = 2365) from 15 studies were included. The pooled estimates of success rate favored the CSR compared with the PDC (RR, 0.97; 95% CI, 0.96 to 0.99; p = 0.001). No significant differences in minor complications or severe complications were found between the PDC and CSR (RR, 0.79; 95% CI, 0.50 to 1.23; p = 0.29; RR, 1.43; 95% CI, 0.74 to 2.75; p = 0.29). The pooled estimates of residual shunts favored the PDC compared with the CSR (RR, 9.07; 95% CI, 4.77 to 17.24; p 0.001), the pooled estimates of aortic regurgitation favored the CSR compared with the PDC (RR, 1.59; 95% CI, 1.05 to 2.39; p = 0.03). PDC is a safe and effective procedure with less surgical injury and shorter perioperative hospital stay. However, aortic regurgitation is a concern during follow-up.

Functional significance of novel variants of the MEF2C gene promoter in congenital ventricular septal defects.

Ventricular septal defect (VSD) is the most common congenital heart disease. Although the coding region of MEF2C is highly relevant to cardiac malformations, the role of MEF2C gene promoter variants in VSD patients has not been genetically investigated. We investigated the role of MEF2C gene promoter variants in 400 Han Chinese subjects (200 patients with isolated and sporadic VSD and 200 healthy controls). The promoter region of the MEF2C gene was sequenced that identified 10 variants. Expression vectors encompassing the variants and the firefly luciferase reporter gene plasmid (pGL3-basic) were constructed and subsequently transfected into HEK-293 cells. The luciferase activities were measured by Dual-luciferase reporter assay system. MEF2C gene promoter transcriptional activity was significantly reduced in 4 of the 10 variants in HEK-293 cells (P < 0.05). In addition, the JASPAR database was used to perform bioinformatics analysis, which showed that these variants disrupt the putative binding sites of transcription factors and affected the expression of MEF2C protein. This study for the first time identified the variants in the promoter of the MEF2C gene in Han Chinese population and revealed the role of these variants in the formation of VSD.