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...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.展开更多
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 expl...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.展开更多
Objectives To investigate the causes, theraputic and preventive methods of com- plications associated with transcatheter occlusion of at- rial septal defect ( ASD) using the Amplatzer septal oc- cluder (ASO) in childr...Objectives To investigate the causes, theraputic and preventive methods of com- plications associated with transcatheter occlusion of at- rial septal defect ( ASD) using the Amplatzer septal oc- cluder (ASO) in children. Methods 289 cases un- derwent transcatheter closure of ASD with ASO. Com- plications occurred in 9 cases. The complications in procedure included systemic circulatory systemic air embolism in 2, pulmonary air embolism in 1, pericar- dial tamponade in 1, ASO malposition requiring emer- gency surgical removal in 1, transient atrial extrasysto- les in 1 and sizing balloon rupture in 1 case. 2 cases with postoperative complications were found in the fol- low-up studies. These included perforation of mitral valve and ASO partially dislodged. In this study, 5 children with intraoperative complication received e- mergency therapy including surgical intervention, and others needed only follow-up, as the complications were transient or asymptomatic. Results There were no children death in this study. The 5 cases who re- ceived treatment were completely healing, and the oth- ers with intra - procedure complications were also had no sequela existed. Cases with mitral valve and ASO partially dislodged were still in follow-up studies, as the 2 patients having no symptoms. Conclutions Air embolism were occurred easily in atrial septal defect cases who received ASO therapy. Complications mainly caused by inappropriate operative procedure and some complications needed emergency treatments. Follow-up studies were important to cases with transcatheter oc- clusion therapy.展开更多
BACKGROUND Unroofed coronary sinus syndrome(UCSS)is a rare congenital heart disease,which has variable morphologic features and is strongly associated with persistent left superior vena cava(PLSVC).However,it is often...BACKGROUND Unroofed coronary sinus syndrome(UCSS)is a rare congenital heart disease,which has variable morphologic features and is strongly associated with persistent left superior vena cava(PLSVC).However,it is often difficult to visualize the left-to-right shunt pathway through the CS by transthoracic echocardiography(TTE).CASE SUMMARY A 37-year-old female was admitted to the hepatological surgery department of a hospital with complaint of subxiphoid pain that had started 1 wk prior.Physical examination revealed a grade 3/6 systolic murmur at the left margin of the sternum,between the 2nd and 3rd intercostal cartilage.The patient underwent echocardiography and was diagnosed with ostium primum atrial septal defect(ASD);thus,she was subsequently transferred to the cardiovascular surgery department.A second TTE evaluation before surgery showed type IV UCSS with secundum ASD.Right-heart contrast echocardiography(RHCE)showed that the right atrium and right ventricle were immediately filled with microbubbles,but no microbubble was observed in the CS.Meanwhile,negative filling was observed at the right atrium orifice of the CS and right atrium side of the secundum atrial septal.RHCE identified UCSS combined with secundum ASD but without PLSVC in this patient.CONCLUSION This rare case of UCSS highlights the value of TTE combined with RHCE in confirming UCSS with ASD or PLSVC.展开更多
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 p...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.展开更多
Atrial septal defect (ASD)is a common acyanotic congenital cardiac disorder associated with genetic mutations.The objective of this study was to identify the genetic factors in a Chinese family with ASD patients by a ...Atrial septal defect (ASD)is a common acyanotic congenital cardiac disorder associated with genetic mutations.The objective of this study was to identify the genetic factors in a Chinese family with ASD patients by a whole exome sequencing approach.Causative ASD gene mutations were examined in 16 members from a three-generation family,among which 6 individuals were diagnosed as having ASD.One hundred and eighty-three unrelated healthy Chinese were recruited as a normal control group.Peripheral venous blood was collected from every subject for genetic analysis.Exome sequencing was performed in the ASD patients.Potential causal mutations were detected in non-ASD family members and normal controls by polymerase chain reaction and sequencing analysis.The results showed that all affected family members carried two novel compound mutations,c.1187delT of PCDHGA4 and c.2557insC of SLFN14,and these two mutations were considered to have synergetic function on ASD.In conclusion,the mutations of c.1187delT of PCDHGA4 and c.2557insC of SLFN14 may be pathogenic factors contributing to the development of ASD.展开更多
Objective:To explore the operative nursing coordination method for the treatment of congenital atrial septal defect(ASD)by transcatheter closure of atrial septal defect via femoral vein.It provides useful experience f...Objective:To explore the operative nursing coordination method for the treatment of congenital atrial septal defect(ASD)by transcatheter closure of atrial septal defect via femoral vein.It provides useful experience for the treatment of congenital heart disease.Methods a total of 12 patients undergoing minimally invasive atrial septal defect closure via femoral vein from January 2017 to November 2017 in our department of cardiac surgery were selected as the subjects.All patients received transesophageal ultrasound guided ASD occlusion by femoral vein.The operation and nursing contents include preoperative care,the cooperation of the itinerant nurses,the coordination of the instrument nurses and the postoperative nursing.Results the operation of 12 patients in this group was successful.The diameter of the occluder was 17.1+4.5 mm during the operation.The time of tracheal intubation was 2.4+0.7 h,from the femoral vein to the sheath tube time was 38.7+9.4 min,the occupancy of ICU was 12.5+2.6 h after the operation.The average time of hospitalization was 4.5+1.8 D.There were 2 cases of shunt 1mm immediately after operation.After 24h reexamination,the shunt disappeared,the heart murmur disappeared in the rest of the patients.No residual shunt and other complications occurred.展开更多
Objectives To improve experience of procedure and success rate of interventional treatment of atrial septal defect (ASD) in children, applying the technique of controlling release of devices in the pulmonary vein (...Objectives To improve experience of procedure and success rate of interventional treatment of atrial septal defect (ASD) in children, applying the technique of controlling release of devices in the pulmonary vein (controlling two disc of device opening for subsequence) in children cases with ASD who can not be occluded by regularly interventional treatment. Methods Since 2000 year 182 child cases (male 70 and 112 female) underwent the procedure of controlling release of devices in the pulmonary vein. The patients' age was from 2 to 14 years old (average 3.77±1.55). The body weight was from 9 to 48 Kg (average 21.53±10.63). When the devices were placed on the right position with difficulty and failure in some cases with short and soft rims of the defect and large defect and the angle between the device and the interval atrial septal (IAS), It could be helpful to put the device into the left upper pulmonary vein, and to make right atrium (proximal) disc opened before the left atrium (distal) disc naturally fall down. At the end the double disc of the device clamped and stood up at the right position of the IAS. After closure of ASD, patients were followed up regularly by echocardiography, X-ray and ECG in the 1,3,6,12 month and 3,5 years. Results The successful rate of device implantation in the improving group (98.4%) was obviously higher than that in the regularly group (68%). The techniques improved in this group with the smaller age, the lighter weight, the larger defect and the larger device comparing with the regularly group. The velocity of the pulmonary vein before occlusion procedure was (0.54±0.15)m/s; after procedure was (0.56±0.16)m/s, P 〉 0.05,there were no significant difference. All cases couldn't found pulmonary congestion by follow up. Conclusions The method of controlling release of device in the pulmonary vein has been used more than 5 years in the occlusion of ASD with double disc device. It is feasible and safety. The aim of the improvement is for overcoming the problem with larger ASD and the rim deficiency in the interventional procedure in children with ASD. In summary: 1. The performance of the procedure must be careful; 2. To avoid complication when put the sheath into the pulmonary vein; 3. To avoid to put the left disc into pulmonary vein too long and pull the device too much; 4. When the procedure have to operate repeatedly, the device can not be released before the position satisfactory. The improvement of the technique is needed to carry on long-term follow-up in the clinical trials.展开更多
Background In China, transthoracic echocardiography (TTE) is popularly used for pre-intervention examination for atrial septal defect (ASD) and for guiding ASD closure. However, the ability to determine ASD size a...Background In China, transthoracic echocardiography (TTE) is popularly used for pre-intervention examination for atrial septal defect (ASD) and for guiding ASD closure. However, the ability to determine ASD size and the safety and efficacy of l-rE for guiding ASD closure still has not been widely accepted. This study aimed to evaluate the efficacy and safety of l-rE used before, during and after transcatheter ASD closure with Amplatzer septal occluders (ASO). Methods Sixty-eight subjects (15 men and 53 women; mean age (33.7±17.3) years) were enrolled. TTE was used to measure the diameters and guide transcatheter closure of ASD. The ASD was examined by long-axis view, basal short-axis view, apical four-chamber view and the subcostal view to observe position, diameter and relation with neighbouring structures. The largest diameter was selected as the reference diameter. Patients were divided into 3 groups according to the ASD reference diameter: 22 subjects with ASD diameter 4-14 mm (group A); 21 subjects with ASD diameter 15-20 mm (group B); and 25 subjects with ASD diameter 21-33 mm (group C). Results ASD was occluded successfully in groups A and B. In group C, occlusion failed in 2 cases; 1 case remained with a 3-mm residual shunt sustained until 6-month follow-up. However, at 6-month follow-up, no case of thromboembolism, ASO dislocation or death occurred in the three groups. The diameter of ASD measured by l-rE could accurately predict the ASO size that could successfully occlude the ASD, especially in patients with ASD 〈20 mm. The ASD diameter measured by l-rE correlated well with ASO size (r= 0.925, P〈0.001 ; r=0.976, P〈0.001 ; r=0.929, P〈0.001 respectively). Conclusions ASD diameter measured by l-rE can accurately estimate the size of the ASO needed for successful closure of ASD. The larger the ASD, the much larger the ASO needed. l-rE is a satisfactory guiding imaging tool for ASD closure.展开更多
Background:Permanent atrial fibrillation (AF) is the most common form of dysrhythmia associated with atrial septal defects (ASDs) in patients older than 40 years.However,little is known about cardiac remodeling after ...Background:Permanent atrial fibrillation (AF) is the most common form of dysrhythmia associated with atrial septal defects (ASDs) in patients older than 40 years.However,little is known about cardiac remodeling after transcatheter closure in patients with permanent AF.This study was designed to compare cardiac events and remodeling effects after transcatheter closure in such patients.Methods:Clinical data of 289 adult patients older than 40 years who underwent ASD closure at our center were analyzed retrospectively.Of them,63 patients with permanent AF were assigned to the case group,and the other 226 patients without permanent AF were assigned to the control group.Cardiac events and changes in left and right cardiac cavity dimensions before the procedure and 6 months after the procedure were compared between the two groups.Results:Patients in the case group were significantly older than those in the control group.The right ventricular (RV) volume and right atrial (RA) volume were decreased significantly in both the groups during a median follow-up period of 6 months after closure (P < 0.001).The left atrial dimensions,left ventricular end-systolic dimensions,left ventricular end-diastolic dimensions and left ventricular ejection fraction showed no significant change before and after the procedure in both the groups.Changes of the RV volume and RA volume in the case group were significantly smaller than those in the control group (P =0.005 and P < 0.001).The New York Heart Association cardiac function was improved in both the groups during the 6 months follow-up period.Conclusions:The transcatheter closure of ASD can improve the cardiac remodeling and cardiac function in patients with or without AF.展开更多
Congenital heart disease (CHD) is the leading cause of birth defects, and its etiology is not completely understood. Atrial septal defect (ASD) is one of the most common defects of CHD. Previous studies have demon...Congenital heart disease (CHD) is the leading cause of birth defects, and its etiology is not completely understood. Atrial septal defect (ASD) is one of the most common defects of CHD. Previous studies have demonstrated that mutations in the transcription factor T-box 20 (TBX20) contribute to congenital ASD. Whole-exome sequencing in combination with a CHD-related gene filter was used to detect a family of three generations with ASD. A novel TBX20 mutation, c.526G〉A (p.D176N), was identified and co-segregated in all affected members in this family. This mutation was predicted to be deleterious by bioinformatics programs (SIFT, Polyphen2, and MutationTaster). This mutation was also not presented in the current Single Nucleotide Polymorphism Database (dbSNP) or National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP). In conclusion, our finding expands the spectrum of TBX20 mutations and provides additional support that TBX20 plays important roles in cardiac development. Our study also provided a new and cost-effective analysis strategy for the genetic study in small CHD pedigree.展开更多
Background The percutaneous transcatheter closure of secundum atrial septal defect (ASD) is increasingly a widespread alternative to surgical closure.The aim of this study was to assess long-term results of percutan...Background The percutaneous transcatheter closure of secundum atrial septal defect (ASD) is increasingly a widespread alternative to surgical closure.The aim of this study was to assess long-term results of percutaneous closure of secundum-type atrial septal defect (ASD Ⅱ).Methods Between January 2001 and December 2005,61 patients underwent a successful percutaneous closure of ASD Ⅱ; including 25 male and 36 female.All were included in the patient study and were followed up to monitor by electrocardiogram and echocardiography,at intervals of 3 days,3 months,6 months,1 year,2 years,and 5 years after operation.Results Three days after percutaneous transcatheter septal closure (PTSC),the right atrium diameter,right ventricular end-diastolic left-right diameter and right ventricutar end-diastolic volume (RVEDV) decreased significantly (P 〈0.05).Right ventricular end-diastolic anteroposterior diameter (RVEDD),right ventricular end-systolic volume (RVESV) and right ventricular ejection fraction (RVEF) also decreased (P〈0.01).During the period from 3 to 6 months,the size of the right atrium and right ventricle returned to normal range.Three days after PTSC,the left ventricular end-diastolic diameter (LVEDD),left ventricular end-diastolic volume (LVEDV),left ventricular end-systolic volume (LVESV),left ventricular-systolic volume (LVSV) and left ventricular ejection fraction (LVEF) were significantly increased (P 〈0.05).At 1 year,the size of the left atrium,left ventricle and left cardiac function returned to normal range (P 〈0.01).There were no deaths or significant complications during the study.At five year follow-up,all defects were completely closed and remained closed thereafter.Conclusion Transcatheter closure of ASD Ⅱ effectively eliminated the abnormal shunt and,subsequently improved the dimensions of each chamber and cardiac function.展开更多
Background:Nitinol-containing devices are widely used in clinical practice.However,there are concerns about nickel release after nitinol-containing device implantation.This study aimed to compare the efficacy and safe...Background:Nitinol-containing devices are widely used in clinical practice.However,there are concerns about nickel release after nitinol-containing device implantation.This study aimed to compare the efficacy and safety of a parylene-coated occluder vs.a traditional nitinol-containing device for atrial septal defect(ASD).Methods:One-hundred-and-eight patients with ASD were prospectively enrolled and randomly assigned to either the trial group to receive a parylene-coated occluder(n=54)or the control group to receive a traditional occluder(n=54).The plugging success rate at 6 months after device implantation and the pre-and post-implantation serum nickel levels were compared between the two groups.A non-inferiority design was used to prove that the therapeutic effect of the parylene-coated device was non-inferior to that of the traditional device.The Cochran–Mantel–Haenszel chi-squared test with adjustment for central effects was used for the comparison between groups.Results:At 6 months after implantation,successful ASD closure was achieved in 52 of 53 patients(98.11%)in both the trial and control groups(95%confidence interval(CI):[4.90,5.16])based on per-protocol set analysis.The absolute value of the lower limit of the 95%CI was 4.90%,which was less than the specified non-inferiority margin of 8%.No deaths or severe complications occurred during 6 months of follow-up.The serum nickel levels were significantly increased at 2 weeks and reached the maximum value at 1 month after implantation in the control group(P<0.05 vs.baseline).In the trial group,there was no significant difference in the serum nickel level before vs.after device implantation(P>0.05).Conclusions:The efficacy of a parylene-coated ASD occluder is non-inferior to that of a traditional uncoated ASD occluder.The parylene-coated occluder prevents nickel release after device implantation and may be an alternative for ASD,especially in patients with a nickel allergy.展开更多
Background While echocardiography has been a pivotal screening test in pulmonary arterial hypertension (PAH), the presence of structural cardiac defects may affect the ability to reliably predict pulmonary artery pr...Background While echocardiography has been a pivotal screening test in pulmonary arterial hypertension (PAH), the presence of structural cardiac defects may affect the ability to reliably predict pulmonary artery pressures (PAPs). This study sought to evaluate the accuracy of Doppler echocardiography (DE) for estimating PAPs in adult atrial septal defect (ASD) patients with PAH. Methods A prospective study was carried out to compare the echocardiographic assessment of PAP with the same pressures obtained by right heart catheterization (RHC) in adult ASD patients with PAH who underwent simultaneous DE and RHC. Bland-Altman analyses were performed to evaluate the agreement between DE and RHC measurements of PAPs. Results Two hundred and fifty-seven patients were included in the study. A significant overestimation of the systolic pulmonary arterial pressure (sPAP) and mean pulmonary artery pressure (mPAP) was reported by echocardiography compared with those by catheterization ((81.8±26.9) mmHg vs. (72.9±26.9) mmHg, P 〈0.01; (51.9±16.4) mmHg vs. (41.4±17.2) mmHg, P 〈0.01, respectively). Twenty-one percent (55/257) of the patients had PAH when estimated by echocardiography whereas showed normal results in the subsequent catheterization test. Using Bland-Altman analytic methods, the bias for the echocardiographic assessment of the sPAP was 9.1 mmHg with 95% limits of agreement ranging from -24.4 to 42.6 mmHg. For mPAP measurement, the bias was 10.5 mmHg with 95% limits of agreement ranging from -12.4 to 33.4 mmHg. On multiple linear regression analysis, age, gender, body surface area, ASDs' diameter, PVR, diastolic blood pressure, and echocardiographic assessment of right atrial pressure (RAP) explained 68.8% of the total variability in the model (P=0.688, P 〈0.01). Conclusion Inaccuracy was frequently reported in Doppler echocardiographic assessment of the PAP in adult ASD patients with PAH and was often associated with age, gender, body surface area, ASDs' diameter, pulmonary vascular resistance, diastolic blood pressure and echocardiographic estimation of RAP.展开更多
Minimally invasive approaches for cardiac surgery in children have been lagging in comparison to the adult world.A wide range of the most common congenital heart defects in infants and children can be repaired suc-ces...Minimally invasive approaches for cardiac surgery in children have been lagging in comparison to the adult world.A wide range of the most common congenital heart defects in infants and children can be repaired suc-cessfully through a variety of non-sternotomy incisions.This has been shown to be associated with superior cos-metic results,shorter hospital stays,and rapid return to full activity compared to sternotomy.These approaches have been around for decades,but they have not been widely adopted for a variety of reasons.Right axillary thor-acotomy is one of these approaches that we believe should be the new standard for the repair of a wide variety of heart defects in children and will be the focus of our current review.展开更多
Simple forms of congenital heart disease can allow patients to go undiagnosed until they reach adulthood.Furthermore,improvements in care of patients with complex congenital heart disease are now allowing most patient...Simple forms of congenital heart disease can allow patients to go undiagnosed until they reach adulthood.Furthermore,improvements in care of patients with complex congenital heart disease are now allowing most patients to reach adulthood.As some patients with adult congenital heart disease can remain asymptomatic until later in life,it is possible for them to serve in the military and eventually fall under the care of Veterans Administration(VA)providers.Therefore it is important for providers,especially cardiologists at VA centers,to have fundamental understanding of the management of adult congenital heart disease.This article provides multiple cases of adult congenital heart disease experienced at a single VA medical center and reviews the anatomy,physiology,and surgical management of each condition.展开更多
基金This study was approved by the Siriraj Institutional Review Board(SIRB),Faculty of Medicine Siriraj Hospital,Mahidol University(COA no.Si 760/2021).The need for consent was waived by the board due to its retrospective nature and as all personal identifying information was obliterated.The study protocol conforms to the ethical guidelines of the 1975 Declaration of Helsinki.
文摘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.
基金This study involving human participants was reviewed and approved by the ethics committee of TEDA International Cardiovascular Hospital,China(No.0715-4,2021,02 August 2021)the National Natural Science Foundation of China[82170353&81870288]+4 种基金the Non-profit Central Research Institute Fund of Chinese Academy of Medical Sciences[2020-PT310-007]Tianjin Municipal and Binhai New Area Health Commissions[KJ20071&2019BWKY010]Tianjin Science and Technology Project[18PTZWHZ00060]TEDA International Cardiovascular Hospital[2021-TD-006&2021-ZX-002&2019-TD-013]Tianjin Key Medical Discipline(Specialty)Construction Project[TJYXZDXK-019A].
文摘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.
文摘Objectives To investigate the causes, theraputic and preventive methods of com- plications associated with transcatheter occlusion of at- rial septal defect ( ASD) using the Amplatzer septal oc- cluder (ASO) in children. Methods 289 cases un- derwent transcatheter closure of ASD with ASO. Com- plications occurred in 9 cases. The complications in procedure included systemic circulatory systemic air embolism in 2, pulmonary air embolism in 1, pericar- dial tamponade in 1, ASO malposition requiring emer- gency surgical removal in 1, transient atrial extrasysto- les in 1 and sizing balloon rupture in 1 case. 2 cases with postoperative complications were found in the fol- low-up studies. These included perforation of mitral valve and ASO partially dislodged. In this study, 5 children with intraoperative complication received e- mergency therapy including surgical intervention, and others needed only follow-up, as the complications were transient or asymptomatic. Results There were no children death in this study. The 5 cases who re- ceived treatment were completely healing, and the oth- ers with intra - procedure complications were also had no sequela existed. Cases with mitral valve and ASO partially dislodged were still in follow-up studies, as the 2 patients having no symptoms. Conclutions Air embolism were occurred easily in atrial septal defect cases who received ASO therapy. Complications mainly caused by inappropriate operative procedure and some complications needed emergency treatments. Follow-up studies were important to cases with transcatheter oc- clusion therapy.
文摘BACKGROUND Unroofed coronary sinus syndrome(UCSS)is a rare congenital heart disease,which has variable morphologic features and is strongly associated with persistent left superior vena cava(PLSVC).However,it is often difficult to visualize the left-to-right shunt pathway through the CS by transthoracic echocardiography(TTE).CASE SUMMARY A 37-year-old female was admitted to the hepatological surgery department of a hospital with complaint of subxiphoid pain that had started 1 wk prior.Physical examination revealed a grade 3/6 systolic murmur at the left margin of the sternum,between the 2nd and 3rd intercostal cartilage.The patient underwent echocardiography and was diagnosed with ostium primum atrial septal defect(ASD);thus,she was subsequently transferred to the cardiovascular surgery department.A second TTE evaluation before surgery showed type IV UCSS with secundum ASD.Right-heart contrast echocardiography(RHCE)showed that the right atrium and right ventricle were immediately filled with microbubbles,but no microbubble was observed in the CS.Meanwhile,negative filling was observed at the right atrium orifice of the CS and right atrium side of the secundum atrial septal.RHCE identified UCSS combined with secundum ASD but without PLSVC in this patient.CONCLUSION This rare case of UCSS highlights the value of TTE combined with RHCE in confirming UCSS with ASD or PLSVC.
文摘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.
文摘Atrial septal defect (ASD)is a common acyanotic congenital cardiac disorder associated with genetic mutations.The objective of this study was to identify the genetic factors in a Chinese family with ASD patients by a whole exome sequencing approach.Causative ASD gene mutations were examined in 16 members from a three-generation family,among which 6 individuals were diagnosed as having ASD.One hundred and eighty-three unrelated healthy Chinese were recruited as a normal control group.Peripheral venous blood was collected from every subject for genetic analysis.Exome sequencing was performed in the ASD patients.Potential causal mutations were detected in non-ASD family members and normal controls by polymerase chain reaction and sequencing analysis.The results showed that all affected family members carried two novel compound mutations,c.1187delT of PCDHGA4 and c.2557insC of SLFN14,and these two mutations were considered to have synergetic function on ASD.In conclusion,the mutations of c.1187delT of PCDHGA4 and c.2557insC of SLFN14 may be pathogenic factors contributing to the development of ASD.
文摘Objective:To explore the operative nursing coordination method for the treatment of congenital atrial septal defect(ASD)by transcatheter closure of atrial septal defect via femoral vein.It provides useful experience for the treatment of congenital heart disease.Methods a total of 12 patients undergoing minimally invasive atrial septal defect closure via femoral vein from January 2017 to November 2017 in our department of cardiac surgery were selected as the subjects.All patients received transesophageal ultrasound guided ASD occlusion by femoral vein.The operation and nursing contents include preoperative care,the cooperation of the itinerant nurses,the coordination of the instrument nurses and the postoperative nursing.Results the operation of 12 patients in this group was successful.The diameter of the occluder was 17.1+4.5 mm during the operation.The time of tracheal intubation was 2.4+0.7 h,from the femoral vein to the sheath tube time was 38.7+9.4 min,the occupancy of ICU was 12.5+2.6 h after the operation.The average time of hospitalization was 4.5+1.8 D.There were 2 cases of shunt 1mm immediately after operation.After 24h reexamination,the shunt disappeared,the heart murmur disappeared in the rest of the patients.No residual shunt and other complications occurred.
文摘Objectives To improve experience of procedure and success rate of interventional treatment of atrial septal defect (ASD) in children, applying the technique of controlling release of devices in the pulmonary vein (controlling two disc of device opening for subsequence) in children cases with ASD who can not be occluded by regularly interventional treatment. Methods Since 2000 year 182 child cases (male 70 and 112 female) underwent the procedure of controlling release of devices in the pulmonary vein. The patients' age was from 2 to 14 years old (average 3.77±1.55). The body weight was from 9 to 48 Kg (average 21.53±10.63). When the devices were placed on the right position with difficulty and failure in some cases with short and soft rims of the defect and large defect and the angle between the device and the interval atrial septal (IAS), It could be helpful to put the device into the left upper pulmonary vein, and to make right atrium (proximal) disc opened before the left atrium (distal) disc naturally fall down. At the end the double disc of the device clamped and stood up at the right position of the IAS. After closure of ASD, patients were followed up regularly by echocardiography, X-ray and ECG in the 1,3,6,12 month and 3,5 years. Results The successful rate of device implantation in the improving group (98.4%) was obviously higher than that in the regularly group (68%). The techniques improved in this group with the smaller age, the lighter weight, the larger defect and the larger device comparing with the regularly group. The velocity of the pulmonary vein before occlusion procedure was (0.54±0.15)m/s; after procedure was (0.56±0.16)m/s, P 〉 0.05,there were no significant difference. All cases couldn't found pulmonary congestion by follow up. Conclusions The method of controlling release of device in the pulmonary vein has been used more than 5 years in the occlusion of ASD with double disc device. It is feasible and safety. The aim of the improvement is for overcoming the problem with larger ASD and the rim deficiency in the interventional procedure in children with ASD. In summary: 1. The performance of the procedure must be careful; 2. To avoid complication when put the sheath into the pulmonary vein; 3. To avoid to put the left disc into pulmonary vein too long and pull the device too much; 4. When the procedure have to operate repeatedly, the device can not be released before the position satisfactory. The improvement of the technique is needed to carry on long-term follow-up in the clinical trials.
文摘Background In China, transthoracic echocardiography (TTE) is popularly used for pre-intervention examination for atrial septal defect (ASD) and for guiding ASD closure. However, the ability to determine ASD size and the safety and efficacy of l-rE for guiding ASD closure still has not been widely accepted. This study aimed to evaluate the efficacy and safety of l-rE used before, during and after transcatheter ASD closure with Amplatzer septal occluders (ASO). Methods Sixty-eight subjects (15 men and 53 women; mean age (33.7±17.3) years) were enrolled. TTE was used to measure the diameters and guide transcatheter closure of ASD. The ASD was examined by long-axis view, basal short-axis view, apical four-chamber view and the subcostal view to observe position, diameter and relation with neighbouring structures. The largest diameter was selected as the reference diameter. Patients were divided into 3 groups according to the ASD reference diameter: 22 subjects with ASD diameter 4-14 mm (group A); 21 subjects with ASD diameter 15-20 mm (group B); and 25 subjects with ASD diameter 21-33 mm (group C). Results ASD was occluded successfully in groups A and B. In group C, occlusion failed in 2 cases; 1 case remained with a 3-mm residual shunt sustained until 6-month follow-up. However, at 6-month follow-up, no case of thromboembolism, ASO dislocation or death occurred in the three groups. The diameter of ASD measured by l-rE could accurately predict the ASO size that could successfully occlude the ASD, especially in patients with ASD 〈20 mm. The ASD diameter measured by l-rE correlated well with ASO size (r= 0.925, P〈0.001 ; r=0.976, P〈0.001 ; r=0.929, P〈0.001 respectively). Conclusions ASD diameter measured by l-rE can accurately estimate the size of the ASO needed for successful closure of ASD. The larger the ASD, the much larger the ASO needed. l-rE is a satisfactory guiding imaging tool for ASD closure.
文摘Background:Permanent atrial fibrillation (AF) is the most common form of dysrhythmia associated with atrial septal defects (ASDs) in patients older than 40 years.However,little is known about cardiac remodeling after transcatheter closure in patients with permanent AF.This study was designed to compare cardiac events and remodeling effects after transcatheter closure in such patients.Methods:Clinical data of 289 adult patients older than 40 years who underwent ASD closure at our center were analyzed retrospectively.Of them,63 patients with permanent AF were assigned to the case group,and the other 226 patients without permanent AF were assigned to the control group.Cardiac events and changes in left and right cardiac cavity dimensions before the procedure and 6 months after the procedure were compared between the two groups.Results:Patients in the case group were significantly older than those in the control group.The right ventricular (RV) volume and right atrial (RA) volume were decreased significantly in both the groups during a median follow-up period of 6 months after closure (P < 0.001).The left atrial dimensions,left ventricular end-systolic dimensions,left ventricular end-diastolic dimensions and left ventricular ejection fraction showed no significant change before and after the procedure in both the groups.Changes of the RV volume and RA volume in the case group were significantly smaller than those in the control group (P =0.005 and P < 0.001).The New York Heart Association cardiac function was improved in both the groups during the 6 months follow-up period.Conclusions:The transcatheter closure of ASD can improve the cardiac remodeling and cardiac function in patients with or without AF.
基金Project supported by the National Natural Science Foundation of China (Nos. 81370204, 81300072, and 81101475) Electronic supplementary materials: The online version of this article (htlp://dx.doi.org/10.1631/jzus.B1400062) contains supplementary materials, which are available to authorized users
文摘Congenital heart disease (CHD) is the leading cause of birth defects, and its etiology is not completely understood. Atrial septal defect (ASD) is one of the most common defects of CHD. Previous studies have demonstrated that mutations in the transcription factor T-box 20 (TBX20) contribute to congenital ASD. Whole-exome sequencing in combination with a CHD-related gene filter was used to detect a family of three generations with ASD. A novel TBX20 mutation, c.526G〉A (p.D176N), was identified and co-segregated in all affected members in this family. This mutation was predicted to be deleterious by bioinformatics programs (SIFT, Polyphen2, and MutationTaster). This mutation was also not presented in the current Single Nucleotide Polymorphism Database (dbSNP) or National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP). In conclusion, our finding expands the spectrum of TBX20 mutations and provides additional support that TBX20 plays important roles in cardiac development. Our study also provided a new and cost-effective analysis strategy for the genetic study in small CHD pedigree.
文摘Background The percutaneous transcatheter closure of secundum atrial septal defect (ASD) is increasingly a widespread alternative to surgical closure.The aim of this study was to assess long-term results of percutaneous closure of secundum-type atrial septal defect (ASD Ⅱ).Methods Between January 2001 and December 2005,61 patients underwent a successful percutaneous closure of ASD Ⅱ; including 25 male and 36 female.All were included in the patient study and were followed up to monitor by electrocardiogram and echocardiography,at intervals of 3 days,3 months,6 months,1 year,2 years,and 5 years after operation.Results Three days after percutaneous transcatheter septal closure (PTSC),the right atrium diameter,right ventricular end-diastolic left-right diameter and right ventricutar end-diastolic volume (RVEDV) decreased significantly (P 〈0.05).Right ventricular end-diastolic anteroposterior diameter (RVEDD),right ventricular end-systolic volume (RVESV) and right ventricular ejection fraction (RVEF) also decreased (P〈0.01).During the period from 3 to 6 months,the size of the right atrium and right ventricle returned to normal range.Three days after PTSC,the left ventricular end-diastolic diameter (LVEDD),left ventricular end-diastolic volume (LVEDV),left ventricular end-systolic volume (LVESV),left ventricular-systolic volume (LVSV) and left ventricular ejection fraction (LVEF) were significantly increased (P 〈0.05).At 1 year,the size of the left atrium,left ventricle and left cardiac function returned to normal range (P 〈0.01).There were no deaths or significant complications during the study.At five year follow-up,all defects were completely closed and remained closed thereafter.Conclusion Transcatheter closure of ASD Ⅱ effectively eliminated the abnormal shunt and,subsequently improved the dimensions of each chamber and cardiac function.
文摘Background:Nitinol-containing devices are widely used in clinical practice.However,there are concerns about nickel release after nitinol-containing device implantation.This study aimed to compare the efficacy and safety of a parylene-coated occluder vs.a traditional nitinol-containing device for atrial septal defect(ASD).Methods:One-hundred-and-eight patients with ASD were prospectively enrolled and randomly assigned to either the trial group to receive a parylene-coated occluder(n=54)or the control group to receive a traditional occluder(n=54).The plugging success rate at 6 months after device implantation and the pre-and post-implantation serum nickel levels were compared between the two groups.A non-inferiority design was used to prove that the therapeutic effect of the parylene-coated device was non-inferior to that of the traditional device.The Cochran–Mantel–Haenszel chi-squared test with adjustment for central effects was used for the comparison between groups.Results:At 6 months after implantation,successful ASD closure was achieved in 52 of 53 patients(98.11%)in both the trial and control groups(95%confidence interval(CI):[4.90,5.16])based on per-protocol set analysis.The absolute value of the lower limit of the 95%CI was 4.90%,which was less than the specified non-inferiority margin of 8%.No deaths or severe complications occurred during 6 months of follow-up.The serum nickel levels were significantly increased at 2 weeks and reached the maximum value at 1 month after implantation in the control group(P<0.05 vs.baseline).In the trial group,there was no significant difference in the serum nickel level before vs.after device implantation(P>0.05).Conclusions:The efficacy of a parylene-coated ASD occluder is non-inferior to that of a traditional uncoated ASD occluder.The parylene-coated occluder prevents nickel release after device implantation and may be an alternative for ASD,especially in patients with a nickel allergy.
文摘Background While echocardiography has been a pivotal screening test in pulmonary arterial hypertension (PAH), the presence of structural cardiac defects may affect the ability to reliably predict pulmonary artery pressures (PAPs). This study sought to evaluate the accuracy of Doppler echocardiography (DE) for estimating PAPs in adult atrial septal defect (ASD) patients with PAH. Methods A prospective study was carried out to compare the echocardiographic assessment of PAP with the same pressures obtained by right heart catheterization (RHC) in adult ASD patients with PAH who underwent simultaneous DE and RHC. Bland-Altman analyses were performed to evaluate the agreement between DE and RHC measurements of PAPs. Results Two hundred and fifty-seven patients were included in the study. A significant overestimation of the systolic pulmonary arterial pressure (sPAP) and mean pulmonary artery pressure (mPAP) was reported by echocardiography compared with those by catheterization ((81.8±26.9) mmHg vs. (72.9±26.9) mmHg, P 〈0.01; (51.9±16.4) mmHg vs. (41.4±17.2) mmHg, P 〈0.01, respectively). Twenty-one percent (55/257) of the patients had PAH when estimated by echocardiography whereas showed normal results in the subsequent catheterization test. Using Bland-Altman analytic methods, the bias for the echocardiographic assessment of the sPAP was 9.1 mmHg with 95% limits of agreement ranging from -24.4 to 42.6 mmHg. For mPAP measurement, the bias was 10.5 mmHg with 95% limits of agreement ranging from -12.4 to 33.4 mmHg. On multiple linear regression analysis, age, gender, body surface area, ASDs' diameter, PVR, diastolic blood pressure, and echocardiographic assessment of right atrial pressure (RAP) explained 68.8% of the total variability in the model (P=0.688, P 〈0.01). Conclusion Inaccuracy was frequently reported in Doppler echocardiographic assessment of the PAP in adult ASD patients with PAH and was often associated with age, gender, body surface area, ASDs' diameter, pulmonary vascular resistance, diastolic blood pressure and echocardiographic estimation of RAP.
文摘Minimally invasive approaches for cardiac surgery in children have been lagging in comparison to the adult world.A wide range of the most common congenital heart defects in infants and children can be repaired suc-cessfully through a variety of non-sternotomy incisions.This has been shown to be associated with superior cos-metic results,shorter hospital stays,and rapid return to full activity compared to sternotomy.These approaches have been around for decades,but they have not been widely adopted for a variety of reasons.Right axillary thor-acotomy is one of these approaches that we believe should be the new standard for the repair of a wide variety of heart defects in children and will be the focus of our current review.
文摘Simple forms of congenital heart disease can allow patients to go undiagnosed until they reach adulthood.Furthermore,improvements in care of patients with complex congenital heart disease are now allowing most patients to reach adulthood.As some patients with adult congenital heart disease can remain asymptomatic until later in life,it is possible for them to serve in the military and eventually fall under the care of Veterans Administration(VA)providers.Therefore it is important for providers,especially cardiologists at VA centers,to have fundamental understanding of the management of adult congenital heart disease.This article provides multiple cases of adult congenital heart disease experienced at a single VA medical center and reviews the anatomy,physiology,and surgical management of each condition.