Women with adult congenital heart disease(CHD)face unique challenges during pregnancy,as gestational cardiovascular(CV)and hemodynamic changes can exacerbate underlying cardiac conditions.While these adaptations are w...Women with adult congenital heart disease(CHD)face unique challenges during pregnancy,as gestational cardiovascular(CV)and hemodynamic changes can exacerbate underlying cardiac conditions.While these adaptations are well tole-rated in women with structurally and functionally normal hearts,they pose sig-nificant risks for those with adult CHD(ACHD),whether repaired,palliated,or with residual defects.Maternal CHD is associated with an increased risk of ad-verse CV events,including stroke,heart failure,arrhythmias,and thromboem-bolic complications during pregnancy and the peripartum period.Effective mana-gement requires a multidisciplinary team,including cardiologists,perinatologists,anesthesiologists,and other skilled care providers.Risk stratification tools such as the modified World Health Organization classification,CARPREG II,and ZA-HARA scores are useful for predicting maternal and fetal outcomes and guiding clinical decision-making.Preconception counseling plays a critical role in asse-ssing individual risks,optimizing cardiac function,and educating patients about potential complications.Future research should prioritize innovative therapies,including targeted pharmacological agents and minimally invasive interventions,alongside improved screening methods to identify high-risk patients before symp-tomatic disease manifests.This review synthesizes current literature on managing pregnant women with ACHD,highlights gaps in clinical practice,and explores future directions to enhance care.Addressing these challenges is essential to improving maternal and fetal outcomes and ensuring comprehensive,patient-centered care throughout the reproductive journey.展开更多
Pulmonary hypertension associated with congenital heart disease represents a significant challenge for clinicians due to its complex pathophysiology and diverse presentation.This patient population exhibits a broad sp...Pulmonary hypertension associated with congenital heart disease represents a significant challenge for clinicians due to its complex pathophysiology and diverse presentation.This patient population exhibits a broad spectrum of anatomical and hemodynamic abnormalities,with congenital heart disease-associated pulmonary arterial hypertension(PAH-CHD)comprising a significant proportion of pediatric pulmonary hypertension(PH)cases.Although progress in diagnostic methods and treatment options has been made,PH continues to be a major contributor to illness and death among affected pediatric patients,especially when diagnosis or treatment is postponed.This review aims to equip non-specialist clinicians with a better understanding of PH associated with congenital heart disease,focusing on its pathophysiology,clinical presentation,and diagnostic criteria.Key recommendations for evaluating and managing this fragile population are presented,emphasizing the importance of early recognition and multidisciplinary collaboration.As an increasing number of congenital heart disease patients reach adulthood,understanding its lifelong impacts becomes crucial for improving outcomes and creating tailored treatment approaches.展开更多
The electrical activity of the human heart,recorded via an electrocardiogram(ECG),is characterized by distinct waveforms such as the P wave,QRS complex,and T wave.By analyzing the duration,morphology,and intervals bet...The electrical activity of the human heart,recorded via an electrocardiogram(ECG),is characterized by distinct waveforms such as the P wave,QRS complex,and T wave.By analyzing the duration,morphology,and intervals between these waveforms,various cardiac disorders can be identified.This study aims to develop a deep learning-based approach for the accurate classification of congenital heart disease(CHD)using ECG data.We employed convolutional neural networks(CNNs)and recurrent neural networks(RNNs)to analyze ECG signals,leveraging their ability to detect multiple features in time-series data.A deep learning model was developed and trained using features such as estimated peak locations,inter-peak intervals,and other ECG parameters.To address class imbalance,we applied the synthetic minority oversampling technique(SMOTE),which generates synthetic samples to balance each class.The analysis was conducted using the MIT-BIH Arrhythmia Database,enabling CHD classification based on ECG patterns.The proposed method improved classification accuracy by effectively balancing the dataset with SMOTE.Compared to conventional methods,the deep learning algorithms demonstrated robust performance in analyzing ECG data and detecting disease-related patterns,achieving superior results.This study highlights the potential of CNNs and RNNs for classifying CHD from ECG signals.By mitigating data imbalance with SMOTE,the approach enhances both accuracy and reliability.Future work will focus on validating the model with additional datasets and addressing real-world challenges such as noise handling and external validation.展开更多
Background:Advancements in diagnostic tools,surgical techniques,and long-termmanagement have significantly improved survival among individuals with congenital heart disease(CHD),leading to an evolving epidemiologic pr...Background:Advancements in diagnostic tools,surgical techniques,and long-termmanagement have significantly improved survival among individuals with congenital heart disease(CHD),leading to an evolving epidemiologic profile characterized by increasing procedural complexity and a growing adult CHD population.This study aimed to examine nationwide trends in CHD surgeries over a 17-year period,with a focus on temporal shifts in surgical volume,procedural complexity,and age-specific incidence.Methods:A total of 41,608 CHD surgeries and 85,417 surgical procedures performed between 2002 and 2018 were identified from a nationwide health insurance database.Temporal trends were evaluated using segmented linear regression,and age-specific standardized incidence rates were calculated per 100,000 population across three age groups:infants(<1 year),children(1-18 years),and adults(≥19 years).Results:Despite a decline in overall surgical volume(from 2523 in 2002 to 1624 in 2018),the number of surgical procedures rose markedly(from 2936 to 5402),indicating higher claims-based procedural volume per patient(i.e.,more billed procedure codes per operation),a proxy for operative intensity rather than a direct measure of clinical or system burden.This divergence was particularly notable in infants and adults,while pediatric surgical rates declined sharply.Age-specific incidence rates of surgical procedures showed a continuous rise in infants and a moderate increase in adults,whereas children demonstrated stable or declining trends.Breakpoints in temporal trends were identified in 2015 for surgeries and 2011 for procedures.Conclusions:The landscape of CHD surgery is undergoing a demographic and clinical transformation,with a shift toward early,complex operations in infants and reoperations in adults.These findings underscore the growing need for age-tailored,resource-intensive care models and long-term strategic planning to accommodate the evolving burden of CHD across the lifespan.展开更多
Introduction:Diabetes mellitus(DM),a metabolic disorder,leads to organ damage due to chronic hyperglycemia with multiple pathogenic processes.Gestational diabetes mellitus(GDM)poses risks to mothers and offspring,incr...Introduction:Diabetes mellitus(DM),a metabolic disorder,leads to organ damage due to chronic hyperglycemia with multiple pathogenic processes.Gestational diabetes mellitus(GDM)poses risks to mothers and offspring,increasing the incidence of structural congenital heart disease(CHD)and myocardial hypertrophy in newborns.Objective:This review aimed to examine the association between maternal diabetes mellitus and CHD.Methods:This systematic review used the STROBE and TRIPOD checklists registered in PROSPERO(CRD42024513858).It focused on diagnostic test accuracy using the Munn et al.protocol for systematic assessment,emphasizing the“PIRD”:Population,Index Test,Reference Test,Diagnosis of Interest.This review aimed the following PIRD model question:‘Does diabetic pregnant woman inffuence in fetal cardiac malformation?’using PRISMA 2020 statement.A systematic review was conducted on 19 October 2023 in the following databases:PubMed/MEDLINE,Embase(Elsevier),CINAHL(EBSCO),Scopus(Elsevier),Web of Science(Clarivate Analytics),LILACS,and SciELO.Only articles in English,Spanish,and Portuguese languages were selected.Results:Seven studies between 2018 and 2023 were selected.The studies differed in terms of the cardiac ultrasound parameters used to assess CHD and diagnose diabetes mellitus in pregnancy.They highlight the importance of fetal echocardiography in detecting CHD prenatally and assessing the impact of diabetes mellitus on fetal cardiac health,recommending proactive care planning and early intervention for better outcomes.Conclusions:The studies highlight the impact of maternal diabetes mellitus,particularly GDM,on fetal cardiac development and support early detection by fetal echocardiography.Standardization and collaboration are essential to reffne management and outcomes in high-risk pregnancies.展开更多
Background:Congenital heart disease(CHD)remains a significant global health concern,with considerable heterogeneity across age groups,genders,and regions.Objective:This study aimed to investigate the global epidemiolo...Background:Congenital heart disease(CHD)remains a significant global health concern,with considerable heterogeneity across age groups,genders,and regions.Objective:This study aimed to investigate the global epidemiological patterns,inequalities,and socio-demographic determinants of CHD burden from 1990 to 2021 to inform targeted interventions.Methods:We utilized data from the Global Burden of Disease 2021 study to assess CHD prevalence,incidence,and mortality rates.Trends were analyzed using Joinpoint regression,age-period-cohort models and autoregressive integrated moving average(ARIMA)forecasting.Health inequality was quantified using the slope index of inequality(SII)and the concentration index(CI),and associations with the Socio-Demographic Index(SDI)were explored.Results:CHD burden increased with age,peaking among individuals aged 70 years and older.This does not reflect new-onset disease,but rather the accumulation of late diagnoses,long-term complications,and healthcare encounters in aging individuals with CHD.Males consistently exhibited higher incidence and mortality rates than females.From 1990 to 2010,global age-standardized prevalence and incidence rates increased steadily and declined slightly thereafter.Joinpoint and age-period-cohort analyses revealed inflection points post-2010 and suggested cohort-related effects.Although SII trends indicated rising inequality over time,that disease burden has become more concentrated in low-SDI regions.ARIMA projections estimated a stable or marginally declining CHD burden by 2030.Regional analyses showed that high-SDI countries experienced significant reductions in CHD mortality,whereas low-SDI regions continued to bear a disproportionate burden.Conclusions:CHD burden has shifted in recent decades,influenced by demographic transitions,healthcare access,and socio-economic development.Despite progress,persistent health inequalities remain.Continued investment in early detection,maternal care,and public health infrastructure is essential to reduce CHD disparities globally.展开更多
Today,more than 90%of children who are born with congenital heart disease survive and reach adulthood,especially in developed countries.Consequently,the population of adults with congenital heart disease has increased...Today,more than 90%of children who are born with congenital heart disease survive and reach adulthood,especially in developed countries.Consequently,the population of adults with congenital heart disease has increased signiffcantly over the last few decades.In Latin America and the Caribbean countries,this same scenario is occurring at an accelerated pace.Loss to follow-up is a global problem in adults with congenital heart disease,ranging from 30–60%.In Latin America and Caribbean countries,it is estimated that less than 10%of adults with congenital heart disease are being followed.The small number of specialists and adult congenital heart disease specialized centers,as well as virtually nonexistent transition and transfer programs,are some of the reasons for this.This article is a narrative review of the current status of the transition and transfer of young adults with congenital heart disease,with a special focus on Latin America and Caribbean countries.It describes the general concepts of transition and transfer,analyzes barriers and,ffnally,presents specialized care alternatives that would reduce losses and improve this population’s care.展开更多
Background:Congenital heart disease(CHD)occurs in 9out of 100 births and is the leadingcatuse of birth defects,with acyanotic CHD being more common.The incidence of adult CHD is risingfaster than pediatric CHD.Pulmona...Background:Congenital heart disease(CHD)occurs in 9out of 100 births and is the leadingcatuse of birth defects,with acyanotic CHD being more common.The incidence of adult CHD is risingfaster than pediatric CHD.Pulmonary hypertension is the most common complication in untreated CHDpatients.Methods:This study is retrospective descriptive research based on medical record data andthe results of right heart catheterization exanninations in adult acyanotic CHD aged>18 years and freefrom other organ disorders.Results:A total of 103 patients met the inclusion criteria,the majority wereyoung adults and predominantly fernale.The median height of 155.0 cm(IQR:150.0-160.0),the meanweight was 49.6 kg±10.7 kg,and BSA of 1.4 m2±0.1 m^(2).Most patients had a normal BMI status andwere classified as WHO-FC II.Herodynamic findings included a median PARI of 13.5 WU/m^(2)(IQR4.5-29.6),RAP 7.0 mmHg(IQR:5.0-11.0),mPAP 56.0 mmHg±23.5 mmHg,LVEDP 9.5 mmHg±3.9 mmHg,PVR 12.6 WU±11.0 WU,PVR/SVR 0.5 WU±0.4 WU,pulmonary artery saturation 74.0%±12.1%,aorticsaturation 88.1%±7.8%,mixed venous saturation 59.0%±10.1%.Conclusions:This study providescomprehensive data on the demographic characteristics and henodynamic parameters of patients withCHD and pulmonary hypertension.As a hospital-based registry,this study offers valuable insights into theclinical profile of adult CHDpatients at Dr.Hasan Sadikin GeneralHospital,Bandung,.展开更多
Background:Congenital heart disease(CHD)is the most common congenital anomaly,but whether the COVID-19 pandemic affects its prevalence is unknown.We aimed to compare the incidence of CHD during the COVID-19 pandemic w...Background:Congenital heart disease(CHD)is the most common congenital anomaly,but whether the COVID-19 pandemic affects its prevalence is unknown.We aimed to compare the incidence of CHD during the COVID-19 pandemic with that before the pandemic in China.Methods:This multicenter retrospective observational study involved all newborns in seven representative cities of China between 01 September 2019,and 31 December 2021.All the newborns underwent pulse oximetry monitoring combined with cardiac murmur auscultation in the first 6 h to 72 h after birth for CHD screening.We defined fetuses born in and beyond September 2020 as the exposed group,and before as the non-exposed group.The incidence of CHD and specific heart abnormalities,including atrial septal defect(ASD)and ventricular septal defect(VSD),before and during the COVID-19 pandemic were compared.Results:The study included 492,662 newborns;217,003 newborns born before September 2020 and 275,659 newborns born in and beyond September 2020.There were 3115 patients with CHD in total during the whole study period.Of those,1055(September 2019 to August 2020)and 2060(September 2020 to December 2021)were less and more affected by the pandemic,respectively.There was a significant increase in the incidence of CHD in the early stage of the COVID-19 pandemic(7.78 per 1000 births)compared to that before the pandemic(4.86 per 1000 births)(p<0.001).The birth prevalence of ASD and VSD significantly increased during the pandemic from 3.991 per 1000 births to 4.717 per 1000 births(p=0.008)and from 1.650 per 1000 births to 3.508 per 1000 births(p<0.001),respectively.Conclusions:The incidence of CHD increased during the COVID-19 pandemic,which was possibly related to the reallocation of medical resources,increased psychological pressure,and increased socioeconomic deprivation,though underlying mechanisms remain unclear.展开更多
Background:In the 1990s,there were few multicenter research collaborations and pediatric cardiovascular clinical trials.The National Heart,Lung,and Blood Institute at the National Institutes of Health established the ...Background:In the 1990s,there were few multicenter research collaborations and pediatric cardiovascular clinical trials.The National Heart,Lung,and Blood Institute at the National Institutes of Health established the Pediatric Heart Network(PHN)in 2001 to stimulate multi-center collaboration and clinical studies in children and adults with congenital heart disease(CHD)and pediatric acquired heart disease.Methods:The PHN developed a flexible infrastructure for multi-center collaborative clinical research in children and adults with CHD and pediatric acquired heart disease.The objectives of the PHN are to improve health outcomes in individuals of all ages with CHD and pediatric acquired heart disease,to disseminate findings to improve treatment options and standards of care,to train and educate new investigators,and to support families during the conduct of clinical research.Results:To date,the PHN has conducted 30 studies,including 13 clinical trials,across over 60 sites and has enrolled over 10,000 participants.PHN studies have impacted clinical practice and guidelines in CHD and have supported the career development of young investigators,research nurses,and study coordinators.None of this would have been possible without the many partnerships with patient advocacy organizations,the U.S.Food and Drug Administration,a variety of industry collaborators and clinical registries.PHN studies have leveraged registry data to improve efficiency,minimize burden and reduce errors in data collection.Conclusion:The PHN’s success is due to fostering collaboration across pediatric cardiology centers,creating a clinical research infrastructure that can adapt to different types of studies,and emphasizing career development of young investigators and research coordinators.This paper will summarize the PHN’s history,partnerships,use of clinical registries,future directions,and ways to get involved.展开更多
Congenital heart disease(CHD)is one of the most common congenital birth defects.With the deepening of people’s understanding of CHD disease and the continuous improvement of screening methods,children with CHD have b...Congenital heart disease(CHD)is one of the most common congenital birth defects.With the deepening of people’s understanding of CHD disease and the continuous improvement of screening methods,children with CHD have been able to receive diagnosis and treatment at an early stage,thus improving the survival rate and quality of life.The main means of early screening of CHD are heart sound auscultation and percutaneous oxygen saturation detection.At present,there are relatively mature commercial equipment for transcutaneous oximetry,but the heart sound assessment is greatly affected by personal experience and external factors,which is prone to misdiagnosis and missed diagnosis.In recent years,the continuous development of artificial intelligence(AI)makes the digital collection,storage,and analysis of heart sound signals,and then makes the intelligent auscultation-assisted diagnosis technology of cardiovascular diseases possible.At present,it is based on deep learning.DL’s AI algorithm has been extensively studied in CHD cardiac sound auscultation assisted diagnosis,but most of them are still in the algorithm research stage and are implemented based on specific data sets,and have not been verified in clinical Settings.In this paper,the development and research status of AI auscultation technology at the current stage are reviewed,the development of DL based intelligent auscultation technology in the field of CHD in recent years is summarized and the problems to be solved in the clinical application of heart sound auscultation are proposed.展开更多
Background:Ventricular arrhythmia is a common cause of mortality in adult congenital heart disease(ACHD).The beneficial effects of implantable cardioverter-defibrillators(ICD)in patients with ACHD have been demonstrat...Background:Ventricular arrhythmia is a common cause of mortality in adult congenital heart disease(ACHD).The beneficial effects of implantable cardioverter-defibrillators(ICD)in patients with ACHD have been demonstrated;however,evidence on this topic remains insufficient.This study aimed to assess the long-term outcomes after ICD implantation in the ACHD population.Methods:We retrospectively reviewed 35 consecutive patients with ACHD who underwent ICD implantation between December 2012 and August 2022.ICD implantation was classified as primary or secondary prevention.The long-term outcomes,including all-cause mortality,appropriate and inappropriate ICD therapy,and complications related to ICD implantation,were evaluated.Results:Among the 35 patients,18 patients underwent ICD implantation for primary prevention.During a median follow-up period of 1484 days,3 patients in the primary prevention group and 1 patient in the secondary prevention group died.The 2-and 5-year all-cause mortality rates were 6.2%and 13.6%,respectively.Two(11.1%)and 4(23.5%)patients in the primary and secondary prevention groups,respectively,received appropriate therapy.Six patients(17%)were administered inappropriate therapy,and 2 patients(5.7%)experienced device-related complications.Kaplan-Meier analysis revealed no significant differences in the all-cause mortality or the rates of appropriate and inappropriate therapy between the primary and secondary prevention groups(p=0.297,p=0.427,and p=0.490,respectively).Conclusions:The incidence of appropriate ICD therapy in patients with ACHD was considerably high and comparable to that observed in patients with acquired heart disease,both in primary and secondary prevention.ICD implantation for primary prevention as well as for secondary prevention may be important in patients with ACHD.展开更多
Background:Adult patients with congenital heart disease(ACHD)might be at high risk of Coronavirus disease-2019(COVID-19).This study aimed to report on a one-year tertiary center experience regards COVID-19 infection i...Background:Adult patients with congenital heart disease(ACHD)might be at high risk of Coronavirus disease-2019(COVID-19).This study aimed to report on a one-year tertiary center experience regards COVID-19 infection in ACHD patients.Methods:This is a one-year(March-2020 to March-2021)tertiary-center retrospective study that enrolled all ACHD patients;COVID-19 positive patients’medical records,and management were reported.Results:We recorded 542 patients,205(37.8%)COVID-19-positive,and 337(62.2%)COVID-19-negative patients.Palliated single ventricle and Eisenmenger syndrome patients were more vulnerable to COVID-19 infection(P<0.05*).Cardiovascular COVID-19 complications were arrhythmias in 47(22.9%)patients,heart failure in 39(19.0%)patients,cyanosis in 12(5.9%)patients,stroke/TIA in 5(2.4%)patients,hypertension and infective endocarditis in 2(1.0%)patients for each,pulmonary hypertension and pulmonary embolism in 1(0.5%)patient for each.11(5.4%)patients were managed with home isolation,147(71.7%)patients required antibiotics,32(15.6%)patients required intensive care unit(ICU),8(3.9%)patients required inotropes,7(3.4%)patients required mechanical ventilation,and 2(1.0%)patients required extracorporeal membrane oxygenation(ECMO).Thromboprophylaxis was given to all 46(22.4%)hospitalized patients.American College of Cardiology/American Heart Association classification revealed that complex lesions,and FC-C/D categories were more likely to develop severe/critical symptoms,that required mechanical ventilation and ECMO(P<0.05*).Mortality was reported in 3(0.6%)patients with no difference between groups(P=0.872).193(35.6%)patients were vaccinated.Conclusions:COVID-19 infection in ACHD patients require individualized risk stratification and management.Eisenmenger syndrome,single ventricle palliation,complex lesions,and FC-C/D patients were more vulnerable to severe/critical symptoms that required ICU admission,mechanical ventilation,and ECMO.The vaccine was mostly tolerable.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
To investigate the application and effectiveness of vascular corrosion technique in preparing fetal cardiovascular cast models, 10 normal fetal heart specimens with other congenital disease（control group） and 18 spe...To investigate the application and effectiveness of vascular corrosion technique in preparing fetal cardiovascular cast models, 10 normal fetal heart specimens with other congenital disease（control group） and 18 specimens with severe congenital heart disease（case group） from induced abortions were enrolled in this study from March 2013 to June 2015 in our hospital. Cast models were prepared by injecting casting material into vascular lumen to demonstrate real geometries of fetal cardiovascular system. Casting effectiveness was analyzed in terms of local anatomic structures and different anatomical levels（including overall level, atrioventricular and great vascular system, left-sided and right-sided heart）, as well as different trimesters of pregnancy. In our study, all specimens were successfully casted. Casting effectiveness analysis of local anatomic structures showed a mean score from 1.90±1.45 to 3.60±0.52, without significant differences between case and control groups in most local anatomic structures except left ventricle, which had a higher score in control group（P=0.027）. Inter-group comparison of casting effectiveness in different anatomical levels showed no significant differences between the two groups. Intra-group comparison also revealed undifferentiated casting effectiveness between atrioventricular and great vascular system, or left-sided and right-sided heart in corresponding group. Third-trimester group had a significantly higher perfusion score in great vascular system than second-trimester group（P=0.046）, while the other anatomical levels displayed no such difference. Vascular corrosion technique can be successfully used in fabrication of fetal cardiovascular cast model. It is also a reliable method to demonstrate three-dimensional anatomy of severe congenital heart disease and normal heart in fetus.展开更多
Objective To investigate the relation of methionine synthase (MS) gene variation with congenital heart disease (CHD) phenotype. Methods One hundred and ninety three CHD patients (94 males and 99 females) and their bio...Objective To investigate the relation of methionine synthase (MS) gene variation with congenital heart disease (CHD) phenotype. Methods One hundred and ninety three CHD patients (94 males and 99 females) and their biological parents (nuclear families) in Liaoning Province were selected as the case group, and another 104 normal persons (60 males and 44 females) and their parents without family history of birth defects as the control group. For all subjects the polymorphism of MS gene A2756G locus was examined by PCR-RFLP method. Results In offspring of the control group the frequencies of MS genotype (+/ -) and allele (+) were 10.7% and 5.3%, without existence of homozygote. The MS genotype distribution and allele frequencies of CHD patients and their mothers were not significantly different from the control (P > 0.05). The frequency of allele (+) in case fathers (5.0 %) was apparently lower than that in the control (9.1%, P=0.060), and the odds ratio (OR) was 0.53 (95% CI: 0.25-1.09). There was no difference in parents' genotype combination between the two groups, and in genotype distribution among different types of CHD. Analysis of genetic transmission indicated that mutation allele (+) existed transmission disequilibrium in CHD nuclear families. The percentage of allele (+) transmitted from parents was lower than that allele (-) with OR 0.26 (95% CI: 0.11-0.60). Conclusion MS gene variation in parents is associated with occurrence of CHD in offspring, and mutation allele (+) in parents may be related with the decrease of CHD risk in offspring.展开更多
Objective To study the relationship between polymorphism of cystathionine beta synthase （CBS） gene and development of congenital heart disease （CHD）. Methods One hundred and twenty-seven CHD case-parent triads wer...Objective To study the relationship between polymorphism of cystathionine beta synthase （CBS） gene and development of congenital heart disease （CHD）. Methods One hundred and twenty-seven CHD case-parent triads were recruited from Liaoning Province as patient group, and 129 healthy subjects without family history of birth defect were simultaneously recruited as control group together with their biological parents. For all subjects the polymorphism of CBS gene G919A locus was examined by PCR-ARMS method, Results The frequencies of three genotypes （w/w, w/m, and m/m） in control group were 27.2%, 58,4%, and 14.4%, respectively, with no significant difference in gender. A significant difference in the allele frequency was found between CHD patients and controls, the wild allele frequency was 67,9% in patients and 55.7% in controls CHD parents＇ genotype distribution was significantly different from that in controls. Further comparison of each type of CHD showed that genotype frequencies in several CHD subtypes were significantly different from those in their corresponding controls. The results of TDT analysis showed that no allele transmission disequilibrium existed in CHD nuclear families. Conclusions CBS gene G919A mutation is associated with the development of CHD, and the mutated allele may decrease the risk of CHD.展开更多
The second edition of the expert consensus on pediatric nutrition was formed based on a global update of pedia-tric nutrition guidelines or consensus worldwide,the management of congenital heart disease,and the result...The second edition of the expert consensus on pediatric nutrition was formed based on a global update of pedia-tric nutrition guidelines or consensus worldwide,the management of congenital heart disease,and the results of multi-center clinical nutrition research for congenital heart disease following thefirst Chinese consensus edition of 2016.The consensus was also shaped by the results of three discussion sessions and two questionnaires con-ducted by the 13-member collaboration group.This process was informed by both clinical guidelines and expert consensus.The quality of literature,both in English and Chinese,and the level of recommendations were evaluated using the Grading of Recommendations Assessment,Development,and Evaluations(GRADE)system.展开更多
The correlation of single nucleotide polymorphism (SNP) rs10569304 on the second expressed region of hole gene and congenital heart disease (CHD) of human being, and the effect of hole gene on CHD were investigated. 1...The correlation of single nucleotide polymorphism (SNP) rs10569304 on the second expressed region of hole gene and congenital heart disease (CHD) of human being, and the effect of hole gene on CHD were investigated. 179 patients with CHD as CHD group and 183 healthy people as control group were selected in the case-control study. DNA was abstracted from the peripheral blood by phenol-chloroform method. Primer was designed for the flanking sequence of SNP rs10569304 on the second expressed region of hole gene. The genotype was identified by PCR degenerative acrylamide electrophoresis with amplification products. Then the three amplification products received sequencing. By chi-square test, the genotype frequency and allele frequency in CHD group and control group were analyzed. There was insertion-deletion (GCC/-) of SNP rs10569304 which corresponded to alleles of A and B in Southern Chinese people. The genotype frequency and allele frequency in control group and CHD group were met the Hardy-Weinberg equilibrium. By chi-square test, in control group and CHD group, the genotype frequency of AA (insertion homozygous), AB (insertion-deletion heterozygous) and BB (deletion homozygous) was 21.31%, 54.09%, 24.59% and 16.75%, 46.36%, 36.87%, respectively. The distributional difference of genotype frequency had statistical significance (χ2=6.51, P<0.05); The allele frequency of A and B was 48.36% and 51.64% in control group, 39.94% and 60.06% in CHD group, respectively. The distribu- tional difference of allele frequency had statistical significance (χ2=5.20, P<0.05). Meanwhile, by contrast with the control group, the BB genotype frequency and B allele frequency in CHD group was higher, but the AA and AB frequency was lower. There was higher risk to suffer from CHD involving B allele. BB genotype had 1.907-fold increased risk of developing CHD according to AA genotype (P<0.05). It is concluded that there is insertion-deletion (GCC/-) of SNP rs10569304 in the Southern Chinese people, and the people whose hole gene involving BB genotype have higher risk to suffering from CHD.展开更多
文摘Women with adult congenital heart disease(CHD)face unique challenges during pregnancy,as gestational cardiovascular(CV)and hemodynamic changes can exacerbate underlying cardiac conditions.While these adaptations are well tole-rated in women with structurally and functionally normal hearts,they pose sig-nificant risks for those with adult CHD(ACHD),whether repaired,palliated,or with residual defects.Maternal CHD is associated with an increased risk of ad-verse CV events,including stroke,heart failure,arrhythmias,and thromboem-bolic complications during pregnancy and the peripartum period.Effective mana-gement requires a multidisciplinary team,including cardiologists,perinatologists,anesthesiologists,and other skilled care providers.Risk stratification tools such as the modified World Health Organization classification,CARPREG II,and ZA-HARA scores are useful for predicting maternal and fetal outcomes and guiding clinical decision-making.Preconception counseling plays a critical role in asse-ssing individual risks,optimizing cardiac function,and educating patients about potential complications.Future research should prioritize innovative therapies,including targeted pharmacological agents and minimally invasive interventions,alongside improved screening methods to identify high-risk patients before symp-tomatic disease manifests.This review synthesizes current literature on managing pregnant women with ACHD,highlights gaps in clinical practice,and explores future directions to enhance care.Addressing these challenges is essential to improving maternal and fetal outcomes and ensuring comprehensive,patient-centered care throughout the reproductive journey.
文摘Pulmonary hypertension associated with congenital heart disease represents a significant challenge for clinicians due to its complex pathophysiology and diverse presentation.This patient population exhibits a broad spectrum of anatomical and hemodynamic abnormalities,with congenital heart disease-associated pulmonary arterial hypertension(PAH-CHD)comprising a significant proportion of pediatric pulmonary hypertension(PH)cases.Although progress in diagnostic methods and treatment options has been made,PH continues to be a major contributor to illness and death among affected pediatric patients,especially when diagnosis or treatment is postponed.This review aims to equip non-specialist clinicians with a better understanding of PH associated with congenital heart disease,focusing on its pathophysiology,clinical presentation,and diagnostic criteria.Key recommendations for evaluating and managing this fragile population are presented,emphasizing the importance of early recognition and multidisciplinary collaboration.As an increasing number of congenital heart disease patients reach adulthood,understanding its lifelong impacts becomes crucial for improving outcomes and creating tailored treatment approaches.
文摘The electrical activity of the human heart,recorded via an electrocardiogram(ECG),is characterized by distinct waveforms such as the P wave,QRS complex,and T wave.By analyzing the duration,morphology,and intervals between these waveforms,various cardiac disorders can be identified.This study aims to develop a deep learning-based approach for the accurate classification of congenital heart disease(CHD)using ECG data.We employed convolutional neural networks(CNNs)and recurrent neural networks(RNNs)to analyze ECG signals,leveraging their ability to detect multiple features in time-series data.A deep learning model was developed and trained using features such as estimated peak locations,inter-peak intervals,and other ECG parameters.To address class imbalance,we applied the synthetic minority oversampling technique(SMOTE),which generates synthetic samples to balance each class.The analysis was conducted using the MIT-BIH Arrhythmia Database,enabling CHD classification based on ECG patterns.The proposed method improved classification accuracy by effectively balancing the dataset with SMOTE.Compared to conventional methods,the deep learning algorithms demonstrated robust performance in analyzing ECG data and detecting disease-related patterns,achieving superior results.This study highlights the potential of CNNs and RNNs for classifying CHD from ECG signals.By mitigating data imbalance with SMOTE,the approach enhances both accuracy and reliability.Future work will focus on validating the model with additional datasets and addressing real-world challenges such as noise handling and external validation.
文摘Background:Advancements in diagnostic tools,surgical techniques,and long-termmanagement have significantly improved survival among individuals with congenital heart disease(CHD),leading to an evolving epidemiologic profile characterized by increasing procedural complexity and a growing adult CHD population.This study aimed to examine nationwide trends in CHD surgeries over a 17-year period,with a focus on temporal shifts in surgical volume,procedural complexity,and age-specific incidence.Methods:A total of 41,608 CHD surgeries and 85,417 surgical procedures performed between 2002 and 2018 were identified from a nationwide health insurance database.Temporal trends were evaluated using segmented linear regression,and age-specific standardized incidence rates were calculated per 100,000 population across three age groups:infants(<1 year),children(1-18 years),and adults(≥19 years).Results:Despite a decline in overall surgical volume(from 2523 in 2002 to 1624 in 2018),the number of surgical procedures rose markedly(from 2936 to 5402),indicating higher claims-based procedural volume per patient(i.e.,more billed procedure codes per operation),a proxy for operative intensity rather than a direct measure of clinical or system burden.This divergence was particularly notable in infants and adults,while pediatric surgical rates declined sharply.Age-specific incidence rates of surgical procedures showed a continuous rise in infants and a moderate increase in adults,whereas children demonstrated stable or declining trends.Breakpoints in temporal trends were identified in 2015 for surgeries and 2011 for procedures.Conclusions:The landscape of CHD surgery is undergoing a demographic and clinical transformation,with a shift toward early,complex operations in infants and reoperations in adults.These findings underscore the growing need for age-tailored,resource-intensive care models and long-term strategic planning to accommodate the evolving burden of CHD across the lifespan.
基金supported by Funding was provided by grants from the Changsha Chinese Medicine Foundation(Grant No.B202314)the Natural Science Foundation of Hunan Province,China(Grant No.2024JJ8224)+1 种基金Changsha Municipal Natural Science Foundation(Grant No.kq2403187)Hunan Province Children’s Safe Medication Clinical Medical Technology Demonstration Base(Grant No.2023SK4083).
文摘Pediatric congenital heart disease(CHD)pharmacotherapy faces three fundamental barriers:developmental pharmacokinetic complexity,anatomic-genetic heterogeneity,and evidence chain gaps.Traditional agents exhibit critical limitations:digoxin’s narrow therapeutic index(0.5–0.9 ng/mL)is exacerbated by ABCB1 mutations(toxicity risk increases 4.1-fold),furosemide efficacy declines by 35%in neonates due to NKCC2 immaturity,andβ-blocker responses vary by CYP2D6 polymorphisms(poor metabolizers require 50–75%dose reduction).Novel strategies demonstrate transformative potential—CRISPR editing achieves 81%reversal of BMPR2-associated pulmonary vascular remodeling,metabolically matured cardiac organoids replicate adult myocardial energy metabolism for drug screening,and SGLT2 inhibitors activate triple mechanisms(calcium overload mitigation,mitophagy,fibrosis reversal).However,clinical translation requires overcoming developmental barriers:age-dependent enzyme expression(infant CYP2D6=30–60%adult activity),post-Fontan hepatotoxicity(bosentan trough concentrations elevates 1.8-fold),and AI model limitations(32%error in complex CHD).Future integration of placental transfer models,disease-specific organoids,and multi-omics mapping of FOXO/CRIM1 pathways will shift paradigms from symptom control to curative repair.
文摘Introduction:Diabetes mellitus(DM),a metabolic disorder,leads to organ damage due to chronic hyperglycemia with multiple pathogenic processes.Gestational diabetes mellitus(GDM)poses risks to mothers and offspring,increasing the incidence of structural congenital heart disease(CHD)and myocardial hypertrophy in newborns.Objective:This review aimed to examine the association between maternal diabetes mellitus and CHD.Methods:This systematic review used the STROBE and TRIPOD checklists registered in PROSPERO(CRD42024513858).It focused on diagnostic test accuracy using the Munn et al.protocol for systematic assessment,emphasizing the“PIRD”:Population,Index Test,Reference Test,Diagnosis of Interest.This review aimed the following PIRD model question:‘Does diabetic pregnant woman inffuence in fetal cardiac malformation?’using PRISMA 2020 statement.A systematic review was conducted on 19 October 2023 in the following databases:PubMed/MEDLINE,Embase(Elsevier),CINAHL(EBSCO),Scopus(Elsevier),Web of Science(Clarivate Analytics),LILACS,and SciELO.Only articles in English,Spanish,and Portuguese languages were selected.Results:Seven studies between 2018 and 2023 were selected.The studies differed in terms of the cardiac ultrasound parameters used to assess CHD and diagnose diabetes mellitus in pregnancy.They highlight the importance of fetal echocardiography in detecting CHD prenatally and assessing the impact of diabetes mellitus on fetal cardiac health,recommending proactive care planning and early intervention for better outcomes.Conclusions:The studies highlight the impact of maternal diabetes mellitus,particularly GDM,on fetal cardiac development and support early detection by fetal echocardiography.Standardization and collaboration are essential to reffne management and outcomes in high-risk pregnancies.
文摘Background:Congenital heart disease(CHD)remains a significant global health concern,with considerable heterogeneity across age groups,genders,and regions.Objective:This study aimed to investigate the global epidemiological patterns,inequalities,and socio-demographic determinants of CHD burden from 1990 to 2021 to inform targeted interventions.Methods:We utilized data from the Global Burden of Disease 2021 study to assess CHD prevalence,incidence,and mortality rates.Trends were analyzed using Joinpoint regression,age-period-cohort models and autoregressive integrated moving average(ARIMA)forecasting.Health inequality was quantified using the slope index of inequality(SII)and the concentration index(CI),and associations with the Socio-Demographic Index(SDI)were explored.Results:CHD burden increased with age,peaking among individuals aged 70 years and older.This does not reflect new-onset disease,but rather the accumulation of late diagnoses,long-term complications,and healthcare encounters in aging individuals with CHD.Males consistently exhibited higher incidence and mortality rates than females.From 1990 to 2010,global age-standardized prevalence and incidence rates increased steadily and declined slightly thereafter.Joinpoint and age-period-cohort analyses revealed inflection points post-2010 and suggested cohort-related effects.Although SII trends indicated rising inequality over time,that disease burden has become more concentrated in low-SDI regions.ARIMA projections estimated a stable or marginally declining CHD burden by 2030.Regional analyses showed that high-SDI countries experienced significant reductions in CHD mortality,whereas low-SDI regions continued to bear a disproportionate burden.Conclusions:CHD burden has shifted in recent decades,influenced by demographic transitions,healthcare access,and socio-economic development.Despite progress,persistent health inequalities remain.Continued investment in early detection,maternal care,and public health infrastructure is essential to reduce CHD disparities globally.
文摘Today,more than 90%of children who are born with congenital heart disease survive and reach adulthood,especially in developed countries.Consequently,the population of adults with congenital heart disease has increased signiffcantly over the last few decades.In Latin America and the Caribbean countries,this same scenario is occurring at an accelerated pace.Loss to follow-up is a global problem in adults with congenital heart disease,ranging from 30–60%.In Latin America and Caribbean countries,it is estimated that less than 10%of adults with congenital heart disease are being followed.The small number of specialists and adult congenital heart disease specialized centers,as well as virtually nonexistent transition and transfer programs,are some of the reasons for this.This article is a narrative review of the current status of the transition and transfer of young adults with congenital heart disease,with a special focus on Latin America and Caribbean countries.It describes the general concepts of transition and transfer,analyzes barriers and,ffnally,presents specialized care alternatives that would reduce losses and improve this population’s care.
文摘Background:Congenital heart disease(CHD)occurs in 9out of 100 births and is the leadingcatuse of birth defects,with acyanotic CHD being more common.The incidence of adult CHD is risingfaster than pediatric CHD.Pulmonary hypertension is the most common complication in untreated CHDpatients.Methods:This study is retrospective descriptive research based on medical record data andthe results of right heart catheterization exanninations in adult acyanotic CHD aged>18 years and freefrom other organ disorders.Results:A total of 103 patients met the inclusion criteria,the majority wereyoung adults and predominantly fernale.The median height of 155.0 cm(IQR:150.0-160.0),the meanweight was 49.6 kg±10.7 kg,and BSA of 1.4 m2±0.1 m^(2).Most patients had a normal BMI status andwere classified as WHO-FC II.Herodynamic findings included a median PARI of 13.5 WU/m^(2)(IQR4.5-29.6),RAP 7.0 mmHg(IQR:5.0-11.0),mPAP 56.0 mmHg±23.5 mmHg,LVEDP 9.5 mmHg±3.9 mmHg,PVR 12.6 WU±11.0 WU,PVR/SVR 0.5 WU±0.4 WU,pulmonary artery saturation 74.0%±12.1%,aorticsaturation 88.1%±7.8%,mixed venous saturation 59.0%±10.1%.Conclusions:This study providescomprehensive data on the demographic characteristics and henodynamic parameters of patients withCHD and pulmonary hypertension.As a hospital-based registry,this study offers valuable insights into theclinical profile of adult CHDpatients at Dr.Hasan Sadikin GeneralHospital,Bandung,.
基金funded by Central Guiding Fund for Local Science and Technology Development Projects(No.2023ZY1058)the National Nature Science Foundation of China(No.82270309)both awarded to Weize Xu.
文摘Background:Congenital heart disease(CHD)is the most common congenital anomaly,but whether the COVID-19 pandemic affects its prevalence is unknown.We aimed to compare the incidence of CHD during the COVID-19 pandemic with that before the pandemic in China.Methods:This multicenter retrospective observational study involved all newborns in seven representative cities of China between 01 September 2019,and 31 December 2021.All the newborns underwent pulse oximetry monitoring combined with cardiac murmur auscultation in the first 6 h to 72 h after birth for CHD screening.We defined fetuses born in and beyond September 2020 as the exposed group,and before as the non-exposed group.The incidence of CHD and specific heart abnormalities,including atrial septal defect(ASD)and ventricular septal defect(VSD),before and during the COVID-19 pandemic were compared.Results:The study included 492,662 newborns;217,003 newborns born before September 2020 and 275,659 newborns born in and beyond September 2020.There were 3115 patients with CHD in total during the whole study period.Of those,1055(September 2019 to August 2020)and 2060(September 2020 to December 2021)were less and more affected by the pandemic,respectively.There was a significant increase in the incidence of CHD in the early stage of the COVID-19 pandemic(7.78 per 1000 births)compared to that before the pandemic(4.86 per 1000 births)(p<0.001).The birth prevalence of ASD and VSD significantly increased during the pandemic from 3.991 per 1000 births to 4.717 per 1000 births(p=0.008)and from 1.650 per 1000 births to 3.508 per 1000 births(p<0.001),respectively.Conclusions:The incidence of CHD increased during the COVID-19 pandemic,which was possibly related to the reallocation of medical resources,increased psychological pressure,and increased socioeconomic deprivation,though underlying mechanisms remain unclear.
基金The Pediatric Heart Network is funded by the National Heart,Lung,and Blood Institute,including grants HL172722,HL172707,HL172717,HL172702,HL172719,HL172695,HL172701,HL172715,HL172720,HL172706.
文摘Background:In the 1990s,there were few multicenter research collaborations and pediatric cardiovascular clinical trials.The National Heart,Lung,and Blood Institute at the National Institutes of Health established the Pediatric Heart Network(PHN)in 2001 to stimulate multi-center collaboration and clinical studies in children and adults with congenital heart disease(CHD)and pediatric acquired heart disease.Methods:The PHN developed a flexible infrastructure for multi-center collaborative clinical research in children and adults with CHD and pediatric acquired heart disease.The objectives of the PHN are to improve health outcomes in individuals of all ages with CHD and pediatric acquired heart disease,to disseminate findings to improve treatment options and standards of care,to train and educate new investigators,and to support families during the conduct of clinical research.Results:To date,the PHN has conducted 30 studies,including 13 clinical trials,across over 60 sites and has enrolled over 10,000 participants.PHN studies have impacted clinical practice and guidelines in CHD and have supported the career development of young investigators,research nurses,and study coordinators.None of this would have been possible without the many partnerships with patient advocacy organizations,the U.S.Food and Drug Administration,a variety of industry collaborators and clinical registries.PHN studies have leveraged registry data to improve efficiency,minimize burden and reduce errors in data collection.Conclusion:The PHN’s success is due to fostering collaboration across pediatric cardiology centers,creating a clinical research infrastructure that can adapt to different types of studies,and emphasizing career development of young investigators and research coordinators.This paper will summarize the PHN’s history,partnerships,use of clinical registries,future directions,and ways to get involved.
文摘Congenital heart disease(CHD)is one of the most common congenital birth defects.With the deepening of people’s understanding of CHD disease and the continuous improvement of screening methods,children with CHD have been able to receive diagnosis and treatment at an early stage,thus improving the survival rate and quality of life.The main means of early screening of CHD are heart sound auscultation and percutaneous oxygen saturation detection.At present,there are relatively mature commercial equipment for transcutaneous oximetry,but the heart sound assessment is greatly affected by personal experience and external factors,which is prone to misdiagnosis and missed diagnosis.In recent years,the continuous development of artificial intelligence(AI)makes the digital collection,storage,and analysis of heart sound signals,and then makes the intelligent auscultation-assisted diagnosis technology of cardiovascular diseases possible.At present,it is based on deep learning.DL’s AI algorithm has been extensively studied in CHD cardiac sound auscultation assisted diagnosis,but most of them are still in the algorithm research stage and are implemented based on specific data sets,and have not been verified in clinical Settings.In this paper,the development and research status of AI auscultation technology at the current stage are reviewed,the development of DL based intelligent auscultation technology in the field of CHD in recent years is summarized and the problems to be solved in the clinical application of heart sound auscultation are proposed.
文摘Background:Ventricular arrhythmia is a common cause of mortality in adult congenital heart disease(ACHD).The beneficial effects of implantable cardioverter-defibrillators(ICD)in patients with ACHD have been demonstrated;however,evidence on this topic remains insufficient.This study aimed to assess the long-term outcomes after ICD implantation in the ACHD population.Methods:We retrospectively reviewed 35 consecutive patients with ACHD who underwent ICD implantation between December 2012 and August 2022.ICD implantation was classified as primary or secondary prevention.The long-term outcomes,including all-cause mortality,appropriate and inappropriate ICD therapy,and complications related to ICD implantation,were evaluated.Results:Among the 35 patients,18 patients underwent ICD implantation for primary prevention.During a median follow-up period of 1484 days,3 patients in the primary prevention group and 1 patient in the secondary prevention group died.The 2-and 5-year all-cause mortality rates were 6.2%and 13.6%,respectively.Two(11.1%)and 4(23.5%)patients in the primary and secondary prevention groups,respectively,received appropriate therapy.Six patients(17%)were administered inappropriate therapy,and 2 patients(5.7%)experienced device-related complications.Kaplan-Meier analysis revealed no significant differences in the all-cause mortality or the rates of appropriate and inappropriate therapy between the primary and secondary prevention groups(p=0.297,p=0.427,and p=0.490,respectively).Conclusions:The incidence of appropriate ICD therapy in patients with ACHD was considerably high and comparable to that observed in patients with acquired heart disease,both in primary and secondary prevention.ICD implantation for primary prevention as well as for secondary prevention may be important in patients with ACHD.
文摘Background:Adult patients with congenital heart disease(ACHD)might be at high risk of Coronavirus disease-2019(COVID-19).This study aimed to report on a one-year tertiary center experience regards COVID-19 infection in ACHD patients.Methods:This is a one-year(March-2020 to March-2021)tertiary-center retrospective study that enrolled all ACHD patients;COVID-19 positive patients’medical records,and management were reported.Results:We recorded 542 patients,205(37.8%)COVID-19-positive,and 337(62.2%)COVID-19-negative patients.Palliated single ventricle and Eisenmenger syndrome patients were more vulnerable to COVID-19 infection(P<0.05*).Cardiovascular COVID-19 complications were arrhythmias in 47(22.9%)patients,heart failure in 39(19.0%)patients,cyanosis in 12(5.9%)patients,stroke/TIA in 5(2.4%)patients,hypertension and infective endocarditis in 2(1.0%)patients for each,pulmonary hypertension and pulmonary embolism in 1(0.5%)patient for each.11(5.4%)patients were managed with home isolation,147(71.7%)patients required antibiotics,32(15.6%)patients required intensive care unit(ICU),8(3.9%)patients required inotropes,7(3.4%)patients required mechanical ventilation,and 2(1.0%)patients required extracorporeal membrane oxygenation(ECMO).Thromboprophylaxis was given to all 46(22.4%)hospitalized patients.American College of Cardiology/American Heart Association classification revealed that complex lesions,and FC-C/D categories were more likely to develop severe/critical symptoms,that required mechanical ventilation and ECMO(P<0.05*).Mortality was reported in 3(0.6%)patients with no difference between groups(P=0.872).193(35.6%)patients were vaccinated.Conclusions:COVID-19 infection in ACHD patients require individualized risk stratification and management.Eisenmenger syndrome,single ventricle palliation,complex lesions,and FC-C/D patients were more vulnerable to severe/critical symptoms that required ICU admission,mechanical ventilation,and ECMO.The vaccine was mostly tolerable.
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.
基金supported by grants from the National Natural Science Foundation of China(No.81530056 and No.81501494)Hubei Province Health and Family Planning Scientific Research Project(No.WJ2015MB016)Hubei Provincial Key Laboratory of Molecular Imaging Foundation,China(No.02.03.2014-29)
文摘To investigate the application and effectiveness of vascular corrosion technique in preparing fetal cardiovascular cast models, 10 normal fetal heart specimens with other congenital disease（control group） and 18 specimens with severe congenital heart disease（case group） from induced abortions were enrolled in this study from March 2013 to June 2015 in our hospital. Cast models were prepared by injecting casting material into vascular lumen to demonstrate real geometries of fetal cardiovascular system. Casting effectiveness was analyzed in terms of local anatomic structures and different anatomical levels（including overall level, atrioventricular and great vascular system, left-sided and right-sided heart）, as well as different trimesters of pregnancy. In our study, all specimens were successfully casted. Casting effectiveness analysis of local anatomic structures showed a mean score from 1.90±1.45 to 3.60±0.52, without significant differences between case and control groups in most local anatomic structures except left ventricle, which had a higher score in control group（P=0.027）. Inter-group comparison of casting effectiveness in different anatomical levels showed no significant differences between the two groups. Intra-group comparison also revealed undifferentiated casting effectiveness between atrioventricular and great vascular system, or left-sided and right-sided heart in corresponding group. Third-trimester group had a significantly higher perfusion score in great vascular system than second-trimester group（P=0.046）, while the other anatomical levels displayed no such difference. Vascular corrosion technique can be successfully used in fabrication of fetal cardiovascular cast model. It is also a reliable method to demonstrate three-dimensional anatomy of severe congenital heart disease and normal heart in fetus.
基金This work was supported by the Major State Basic Research Development Program of People's Republic of China (G1999055904) the Danone's Diet and Nutrition Research and Education Grant (DIC2002-08).
文摘Objective To investigate the relation of methionine synthase (MS) gene variation with congenital heart disease (CHD) phenotype. Methods One hundred and ninety three CHD patients (94 males and 99 females) and their biological parents (nuclear families) in Liaoning Province were selected as the case group, and another 104 normal persons (60 males and 44 females) and their parents without family history of birth defects as the control group. For all subjects the polymorphism of MS gene A2756G locus was examined by PCR-RFLP method. Results In offspring of the control group the frequencies of MS genotype (+/ -) and allele (+) were 10.7% and 5.3%, without existence of homozygote. The MS genotype distribution and allele frequencies of CHD patients and their mothers were not significantly different from the control (P > 0.05). The frequency of allele (+) in case fathers (5.0 %) was apparently lower than that in the control (9.1%, P=0.060), and the odds ratio (OR) was 0.53 (95% CI: 0.25-1.09). There was no difference in parents' genotype combination between the two groups, and in genotype distribution among different types of CHD. Analysis of genetic transmission indicated that mutation allele (+) existed transmission disequilibrium in CHD nuclear families. The percentage of allele (+) transmitted from parents was lower than that allele (-) with OR 0.26 (95% CI: 0.11-0.60). Conclusion MS gene variation in parents is associated with occurrence of CHD in offspring, and mutation allele (+) in parents may be related with the decrease of CHD risk in offspring.
基金This work was supported by Major State Basic Research Development Program of the People's Republic of China (No. 2001CB510305).
文摘Objective To study the relationship between polymorphism of cystathionine beta synthase （CBS） gene and development of congenital heart disease （CHD）. Methods One hundred and twenty-seven CHD case-parent triads were recruited from Liaoning Province as patient group, and 129 healthy subjects without family history of birth defect were simultaneously recruited as control group together with their biological parents. For all subjects the polymorphism of CBS gene G919A locus was examined by PCR-ARMS method, Results The frequencies of three genotypes （w/w, w/m, and m/m） in control group were 27.2%, 58,4%, and 14.4%, respectively, with no significant difference in gender. A significant difference in the allele frequency was found between CHD patients and controls, the wild allele frequency was 67,9% in patients and 55.7% in controls CHD parents＇ genotype distribution was significantly different from that in controls. Further comparison of each type of CHD showed that genotype frequencies in several CHD subtypes were significantly different from those in their corresponding controls. The results of TDT analysis showed that no allele transmission disequilibrium existed in CHD nuclear families. Conclusions CBS gene G919A mutation is associated with the development of CHD, and the mutated allele may decrease the risk of CHD.
基金supported by the National Natural Science Foundation of China(81970265,82270310)a Sub-Project of the National Key R&D Program“The recognition and Identification of Genetic Pathogenic Genes for Structural Birth Defects”(2021YFC2701002)+1 种基金Nanjing Science and Technology Development Project(2019060007)Jiangsu Provincial Key Research and Development Program(BE2023662).
文摘The second edition of the expert consensus on pediatric nutrition was formed based on a global update of pedia-tric nutrition guidelines or consensus worldwide,the management of congenital heart disease,and the results of multi-center clinical nutrition research for congenital heart disease following thefirst Chinese consensus edition of 2016.The consensus was also shaped by the results of three discussion sessions and two questionnaires con-ducted by the 13-member collaboration group.This process was informed by both clinical guidelines and expert consensus.The quality of literature,both in English and Chinese,and the level of recommendations were evaluated using the Grading of Recommendations Assessment,Development,and Evaluations(GRADE)system.
基金supported by grants from the Science & Technology Foundation of Guizhou Province (No. [2007]2088)China Postdoctoral Science Foundation (No. 20080440215)+1 种基金the Natural Science Foundation of Guangdong Province (No. 7000068)the Science & Technology Planning Project of Guangzhou City and Guangdong Province (Nos. 2009B011000018, 2009J1-c491)
文摘The correlation of single nucleotide polymorphism (SNP) rs10569304 on the second expressed region of hole gene and congenital heart disease (CHD) of human being, and the effect of hole gene on CHD were investigated. 179 patients with CHD as CHD group and 183 healthy people as control group were selected in the case-control study. DNA was abstracted from the peripheral blood by phenol-chloroform method. Primer was designed for the flanking sequence of SNP rs10569304 on the second expressed region of hole gene. The genotype was identified by PCR degenerative acrylamide electrophoresis with amplification products. Then the three amplification products received sequencing. By chi-square test, the genotype frequency and allele frequency in CHD group and control group were analyzed. There was insertion-deletion (GCC/-) of SNP rs10569304 which corresponded to alleles of A and B in Southern Chinese people. The genotype frequency and allele frequency in control group and CHD group were met the Hardy-Weinberg equilibrium. By chi-square test, in control group and CHD group, the genotype frequency of AA (insertion homozygous), AB (insertion-deletion heterozygous) and BB (deletion homozygous) was 21.31%, 54.09%, 24.59% and 16.75%, 46.36%, 36.87%, respectively. The distributional difference of genotype frequency had statistical significance (χ2=6.51, P<0.05); The allele frequency of A and B was 48.36% and 51.64% in control group, 39.94% and 60.06% in CHD group, respectively. The distribu- tional difference of allele frequency had statistical significance (χ2=5.20, P<0.05). Meanwhile, by contrast with the control group, the BB genotype frequency and B allele frequency in CHD group was higher, but the AA and AB frequency was lower. There was higher risk to suffer from CHD involving B allele. BB genotype had 1.907-fold increased risk of developing CHD according to AA genotype (P<0.05). It is concluded that there is insertion-deletion (GCC/-) of SNP rs10569304 in the Southern Chinese people, and the people whose hole gene involving BB genotype have higher risk to suffering from CHD.
