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...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.展开更多
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 ...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.展开更多
Objectives To evaluate the therapeutic effect of transcatheter Amplatzer device on the closure of ventricular septal defect （VSD）. Methods Among 143 patients with VSD, 135 patients with perimembrane VSD and 2 wit...Objectives To evaluate the therapeutic effect of transcatheter Amplatzer device on the closure of ventricular septal defect （VSD）. Methods Among 143 patients with VSD, 135 patients with perimembrane VSD and 2 with muscular VSD aged 2.5 -28 years old, were successfully closed with Amplatzer oeeluder device by the pereutaneous guidwire through femoral artery-VSD-femoral vein route under the guidance of fluoroscopy, ventrieulography and transthoracic echocardiography （TIE）. The diameters of the VSDs were 2.3-15.7 （6.90±2.76）mm by left ventriculography. Results The success rate of transcatheter closure of VSD with Amplatzer devices was 96%（137/143）. Minimal residual amount of shunts were found in one patient, although the shunts was decreased one month after the procedure. There were one patient who had respiratory arrest during the procedure, 7 patients（5%）had conduction disturbance, 3 patients had complete left bundle branch block, 2 patients had complete right bundle branch block, 1 patient had Ⅰ degree atrial-ventricular block and 1 patient had Ⅲ degree atr/al-ventricular block during hospitalization. The diameters of the occluder ranged from 4 to 23 （9.13±3.31）mm and were symmetrical in 122 patients and asymmetrical in 15 patients. Conclusions Transcatheter closure of the perimembranous ventrieular septal defect using Amplatzer VSD occluder device is an efficient method for patients with the perimembranous VSD. The operation is simple with a high success rate and a good effect.展开更多
Background: There is a need for data on epidemiological, clinical and therapeutic aspects of ventricular septal defect among children in?Sub-Saharan Africa. Objective: The aim of this study was to determine the preval...Background: There is a need for data on epidemiological, clinical and therapeutic aspects of ventricular septal defect among children in?Sub-Saharan Africa. Objective: The aim of this study was to determine the prevalence, epidemioclinical, echocardiographic, therapeutic and evolutionary aspects of ventricular septal defects (VSD) in the pediatric department of the University Hospital Center (CHUSS) of Bobo-Dioulasso. Methods: This study was a descriptive cross-sectional study, conducted from November 2013 to December 2016. All children aged 1 to 179 months seen at the pediatric consultation in CHUSS were included. CIV was confirmed with Doppler echocardiography. Results: Out of 36,240 children who received consultation in the pediatric ward of CHUSS during the study period, one hundred (100) cases of them had congenital heart disease representing a hospital prevalence of 2.76%. This was diagnosed with Doppler echocardiography. Of these, 88% were VSD isolated or associated with other cardiac malformations. Isolated form was reported in 54.3% of cases. The average?age at diagnosis was 39.6 months. The sex ratio was 1.05. Perimembranous topography and hemodynamic type 2 were the highest, representing 56.8% and 35.2% respectively. The indication for surgical repair was recommended for 81.8% of the cases, but only 9.7% of these cases benefited from cardiac surgery. The rest were for medicalcare with a high proportion of lost to follow-up (48.9%). Conclusion: VSD is the most common congenital heart disease. Its care is mainly surgical. This cardiac surgery is non-existent in Burkina Faso. The design of multidisciplinary strategies associated with an optimization of the means of the countries of Sub-Saharan Africa could improve the management of this cardiopathy.展开更多
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...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.展开更多
Surgical intervention for post-infarct ventricular septal defect (VSD) is a challenging procedure due to patients’ complex preoperative conditions. While percutaneous VSD closure can be considered as an alternative t...Surgical intervention for post-infarct ventricular septal defect (VSD) is a challenging procedure due to patients’ complex preoperative conditions. While percutaneous VSD closure can be considered as an alternative to surgical repair, complete closure of the defect remains difficult and is associated with various procedural complications. We report a rare case of a patient with postoperative residual shunts who experienced recurrent stroke episodes, requiring surgical intervention for repair. The patient, a 71-year-old female, developed acute anterior myocardial infarction and post-infarct VSD. Percutaneous closure with a 14-mm Amplatzer VSD occluder device was performed, yet the closure was incomplete. Following discharge, she developed multiple embolic stroke episodes, likely stemming from the residual VSD, which led to the surgical extraction of the device and VSD repair. Fibrous tissue was found to be solely attached to the core and right ventricle side of the device, whilst no fibrous tissue was observed on the side of the left ventricle. The patient has not experienced new neurological symptoms at an 18-month follow-up. Thus, it is paramount to keep in mind that an embolic stroke may occur in the setting of percutaneous post-infarct VSD closure. Surgical repair of VSD with device removal should be considered as a treatment option to such a complex case.展开更多
Background Congenital heart disease with severe pulmonary arterial hypertension （SPAH）,previously thought to have irreversible pulmonary vascular disease （PVD）,has been recently successfully corrected using diagno...Background Congenital heart disease with severe pulmonary arterial hypertension （SPAH）,previously thought to have irreversible pulmonary vascular disease （PVD）,has been recently successfully corrected using diagnostic treatment and repair strategy by our surgery team.This study aimed to evaluate the midterm results of a selected cohort of older patients with nonrestrictive ventricular septal defect （VSD） and SPAH using diagnostic treatment and repair strategy.Methods The records of 56 patients older than six years with nonrestrictive VSD and SPAH undergoing diagnostic treatment and repair strategy from 2006 to 2012 were retrospectively reviewed.All patients received advanced pulmonary arterial hypertension （PAH） therapy and radical repairs were performed when transcutaneous oxygen saturation （SPO2） increased up to 93％.Results There were no operative deaths.SPO2 and baseline six-minute walk test （SMWT） distance of all selected patients increased significantly and mean pulmonary artery pressure （MPAP） regressed significantly after diagnostic treatment and at late follow-up （P ＜0.01）.The incidence of late postoperative PAH was seen in six （10.7％） patients and by Logistic regression analysis,early postoperative PAH was an independent risk factor related to late postoperative PAH.Conclusions Diagnostic treatment and repair strategy was effective and safe for treatment of nonrestrictive VSD and SPAH and the midterm results were excellent.Diagnostic treatment strategy was effective in assessing the reversibility of SPAH in older patients associated with nonrestrictive VSD and the PVD in these selective patients is generally reversible.展开更多
Background Congenital heart disease （CHD） is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with the development of the heart. Re...Background Congenital heart disease （CHD） is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with the development of the heart. Recently, focus is on the role of transcription factor NFATcl in the development of proper valve and septa. As part of a larger study, high density single nucleotide polymorphism （SNP） scanning was used to explore the relationship between NFATcl gene polymorphism and susceptibility to ventricular septal defect （VSD） in the Chinese Hart population. Methods One hundred and ninety-two pediatric patients with congenital VSD and 192 matching healthy control subjects were studied. The haplotype reconstructions were calculated by PHASE2.0 software. Haploview software was used to perform linkage disequilibrium assessment and define haplotype blocks. The algorithm used for defining the blocks was the confidence interval method. Results The NFATcl gene region can be divided into 11 haplotype blocks. Strong linkage disequilibrium existed within blocks 6, 8, 9, and 11. Three SNPs （rs7240256, rs11665469, and rs754505） within the NFATcl gene had significant correlation with VSD by single marker association analysis. In addition, two haplotypes correlated with VSD. Conclusions NFATcl is associated with the occurrence of VSD and it may be a predisposing gene to CHD in Hart Chinese. This finding has set a direction for further genetic and functional studies.展开更多
Background Congenital heart disease is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with development of the heart. A recent focus...Background Congenital heart disease is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with development of the heart. A recent focus is the role of transcription factor TBX5 in the development of atria, left ventricle and conduction system. As part of a larger study, high density, single nucleotide polymorphism （SNP） scanning was used to explore the relationship between TBX5 gene polymorphism and susceptibility to ventricular septal defect not associated with forelimb malformation in the Chinese Han population.Methods One hundred and ninety two paediatric patients with congenital ventricular septal defect and 192 matched healthy control subjects were studied. The haplotype reconstructions were calcutated by PHASE2.0 software. Haploview software was used to perform linkage disequilibrium assessment and defining of haplotype blocks. The algorithm used for defining of blocks was the confidence interval method.Results The TBX5 gene region can be divided into 3 haplotype blocks of 27, 15 and 2 SNPs. Strong linkage disequilibrium exists within each block. SNP rs11067075 within the TBX5 gene had significant correlation with ventricular septal defect （P=0.0037） by single marker association analysis. In addition, a 20 kb haplotype composed of 27 SNPs correlated with ventricular septal defect （P=0.05, multiple loci regression analyses based on reconstructed haplotype blocks）. Conclusions TBX5 is associated with the occurrence of ventricular septal defect and may be a predisposing gene to congenital heart disease in Han Chinese. This finding has set a direction for further genetic and functional studies.展开更多
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...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.展开更多
文摘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.
文摘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.
文摘Objectives To evaluate the therapeutic effect of transcatheter Amplatzer device on the closure of ventricular septal defect （VSD）. Methods Among 143 patients with VSD, 135 patients with perimembrane VSD and 2 with muscular VSD aged 2.5 -28 years old, were successfully closed with Amplatzer oeeluder device by the pereutaneous guidwire through femoral artery-VSD-femoral vein route under the guidance of fluoroscopy, ventrieulography and transthoracic echocardiography （TIE）. The diameters of the VSDs were 2.3-15.7 （6.90±2.76）mm by left ventriculography. Results The success rate of transcatheter closure of VSD with Amplatzer devices was 96%（137/143）. Minimal residual amount of shunts were found in one patient, although the shunts was decreased one month after the procedure. There were one patient who had respiratory arrest during the procedure, 7 patients（5%）had conduction disturbance, 3 patients had complete left bundle branch block, 2 patients had complete right bundle branch block, 1 patient had Ⅰ degree atrial-ventricular block and 1 patient had Ⅲ degree atr/al-ventricular block during hospitalization. The diameters of the occluder ranged from 4 to 23 （9.13±3.31）mm and were symmetrical in 122 patients and asymmetrical in 15 patients. Conclusions Transcatheter closure of the perimembranous ventrieular septal defect using Amplatzer VSD occluder device is an efficient method for patients with the perimembranous VSD. The operation is simple with a high success rate and a good effect.
文摘Background: There is a need for data on epidemiological, clinical and therapeutic aspects of ventricular septal defect among children in?Sub-Saharan Africa. Objective: The aim of this study was to determine the prevalence, epidemioclinical, echocardiographic, therapeutic and evolutionary aspects of ventricular septal defects (VSD) in the pediatric department of the University Hospital Center (CHUSS) of Bobo-Dioulasso. Methods: This study was a descriptive cross-sectional study, conducted from November 2013 to December 2016. All children aged 1 to 179 months seen at the pediatric consultation in CHUSS were included. CIV was confirmed with Doppler echocardiography. Results: Out of 36,240 children who received consultation in the pediatric ward of CHUSS during the study period, one hundred (100) cases of them had congenital heart disease representing a hospital prevalence of 2.76%. This was diagnosed with Doppler echocardiography. Of these, 88% were VSD isolated or associated with other cardiac malformations. Isolated form was reported in 54.3% of cases. The average?age at diagnosis was 39.6 months. The sex ratio was 1.05. Perimembranous topography and hemodynamic type 2 were the highest, representing 56.8% and 35.2% respectively. The indication for surgical repair was recommended for 81.8% of the cases, but only 9.7% of these cases benefited from cardiac surgery. The rest were for medicalcare with a high proportion of lost to follow-up (48.9%). Conclusion: VSD is the most common congenital heart disease. Its care is mainly surgical. This cardiac surgery is non-existent in Burkina Faso. The design of multidisciplinary strategies associated with an optimization of the means of the countries of Sub-Saharan Africa could improve the management of this cardiopathy.
文摘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.
文摘Surgical intervention for post-infarct ventricular septal defect (VSD) is a challenging procedure due to patients’ complex preoperative conditions. While percutaneous VSD closure can be considered as an alternative to surgical repair, complete closure of the defect remains difficult and is associated with various procedural complications. We report a rare case of a patient with postoperative residual shunts who experienced recurrent stroke episodes, requiring surgical intervention for repair. The patient, a 71-year-old female, developed acute anterior myocardial infarction and post-infarct VSD. Percutaneous closure with a 14-mm Amplatzer VSD occluder device was performed, yet the closure was incomplete. Following discharge, she developed multiple embolic stroke episodes, likely stemming from the residual VSD, which led to the surgical extraction of the device and VSD repair. Fibrous tissue was found to be solely attached to the core and right ventricle side of the device, whilst no fibrous tissue was observed on the side of the left ventricle. The patient has not experienced new neurological symptoms at an 18-month follow-up. Thus, it is paramount to keep in mind that an embolic stroke may occur in the setting of percutaneous post-infarct VSD closure. Surgical repair of VSD with device removal should be considered as a treatment option to such a complex case.
文摘Background Congenital heart disease with severe pulmonary arterial hypertension （SPAH）,previously thought to have irreversible pulmonary vascular disease （PVD）,has been recently successfully corrected using diagnostic treatment and repair strategy by our surgery team.This study aimed to evaluate the midterm results of a selected cohort of older patients with nonrestrictive ventricular septal defect （VSD） and SPAH using diagnostic treatment and repair strategy.Methods The records of 56 patients older than six years with nonrestrictive VSD and SPAH undergoing diagnostic treatment and repair strategy from 2006 to 2012 were retrospectively reviewed.All patients received advanced pulmonary arterial hypertension （PAH） therapy and radical repairs were performed when transcutaneous oxygen saturation （SPO2） increased up to 93％.Results There were no operative deaths.SPO2 and baseline six-minute walk test （SMWT） distance of all selected patients increased significantly and mean pulmonary artery pressure （MPAP） regressed significantly after diagnostic treatment and at late follow-up （P ＜0.01）.The incidence of late postoperative PAH was seen in six （10.7％） patients and by Logistic regression analysis,early postoperative PAH was an independent risk factor related to late postoperative PAH.Conclusions Diagnostic treatment and repair strategy was effective and safe for treatment of nonrestrictive VSD and SPAH and the midterm results were excellent.Diagnostic treatment strategy was effective in assessing the reversibility of SPAH in older patients associated with nonrestrictive VSD and the PVD in these selective patients is generally reversible.
基金This work was supported by a grant from the National Natural Science Foundation of China （No. 30872701）.
文摘Background Congenital heart disease （CHD） is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with the development of the heart. Recently, focus is on the role of transcription factor NFATcl in the development of proper valve and septa. As part of a larger study, high density single nucleotide polymorphism （SNP） scanning was used to explore the relationship between NFATcl gene polymorphism and susceptibility to ventricular septal defect （VSD） in the Chinese Hart population. Methods One hundred and ninety-two pediatric patients with congenital VSD and 192 matching healthy control subjects were studied. The haplotype reconstructions were calculated by PHASE2.0 software. Haploview software was used to perform linkage disequilibrium assessment and define haplotype blocks. The algorithm used for defining the blocks was the confidence interval method. Results The NFATcl gene region can be divided into 11 haplotype blocks. Strong linkage disequilibrium existed within blocks 6, 8, 9, and 11. Three SNPs （rs7240256, rs11665469, and rs754505） within the NFATcl gene had significant correlation with VSD by single marker association analysis. In addition, two haplotypes correlated with VSD. Conclusions NFATcl is associated with the occurrence of VSD and it may be a predisposing gene to CHD in Hart Chinese. This finding has set a direction for further genetic and functional studies.
基金This work was supported by Beijing Municipal Science ＆ Technology Commission （No.Y0204004040231） and the National Science Foundation of China （No.30672193）.Acknowledgements： We thank patients and their families for participating and members of the Paediatric Heart Centre for support. We thank Beijing Genomics Institute for providing material and technical support.
文摘Background Congenital heart disease is a diverse group of diseases determined by genetic and environmental factors. Considerable research has been done on genes associated with development of the heart. A recent focus is the role of transcription factor TBX5 in the development of atria, left ventricle and conduction system. As part of a larger study, high density, single nucleotide polymorphism （SNP） scanning was used to explore the relationship between TBX5 gene polymorphism and susceptibility to ventricular septal defect not associated with forelimb malformation in the Chinese Han population.Methods One hundred and ninety two paediatric patients with congenital ventricular septal defect and 192 matched healthy control subjects were studied. The haplotype reconstructions were calcutated by PHASE2.0 software. Haploview software was used to perform linkage disequilibrium assessment and defining of haplotype blocks. The algorithm used for defining of blocks was the confidence interval method.Results The TBX5 gene region can be divided into 3 haplotype blocks of 27, 15 and 2 SNPs. Strong linkage disequilibrium exists within each block. SNP rs11067075 within the TBX5 gene had significant correlation with ventricular septal defect （P=0.0037） by single marker association analysis. In addition, a 20 kb haplotype composed of 27 SNPs correlated with ventricular septal defect （P=0.05, multiple loci regression analyses based on reconstructed haplotype blocks）. Conclusions TBX5 is associated with the occurrence of ventricular septal defect and may be a predisposing gene to congenital heart disease in Han Chinese. This finding has set a direction for further genetic and functional studies.
文摘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.
