Background:Given the pervasive issues of obesity and diabetes both in Puerto Rico and the broader United States,there is a compelling need to investigate the intricate interplay among body mass index(BMI),pregesta-tio...Background:Given the pervasive issues of obesity and diabetes both in Puerto Rico and the broader United States,there is a compelling need to investigate the intricate interplay among body mass index(BMI),pregesta-tional,and gestational maternal diabetes,and their potential impact on the occurrence of congenital heart defects(CHD)during neonatal development.Methods:Using the comprehensive System of Vigilance and Surveillance of Congenital Defects in Puerto Rico,we conducted a focused analysis on neonates diagnosed with CHD between 2016 and 2020.Our assessment encompassed a range of variables,including maternal age,gestational age,BMI,pregestational diabetes,gestational diabetes,hypertension,history of abortion,and presence of preeclampsia.Results:A cohort of 673 patients was included in our study.The average maternal age was 26 years,within a range of 22 to 32 years.The mean gestational age measured 39 weeks,with a median span of 38 to 39 weeks.Of the 673 patients,274(41%)mothers gave birth to neonates diagnosed with CHD.Within this group,22 cases were linked to pre-gestational diabetes,while 202 were not;20 instances were associated with gestational diabetes,compared to 200 without;and 148 cases exhibited an overweight or obese BMI,whereas 126 displayed a normal BMI.Conclusion:We identified a statistically significant correlation between pre-gestational diabetes mellitus and the occurrence of CHD.However,our analysis did not show a statistically significant association between maternal BMI and the likelihood of CHD.These results may aid in developing effective strategies to prevent and manage CHD in neonates.展开更多
Background:Research on fetal congenital heart defect(CHD)mostly focuses on etiology and mechanisms.However,studies on maternal complications or pathophysiology are limited.Our objective was to determine whether vascul...Background:Research on fetal congenital heart defect(CHD)mostly focuses on etiology and mechanisms.However,studies on maternal complications or pathophysiology are limited.Our objective was to determine whether vascular dysfunction exists in pregnant women carrying a fetus with congenital heart defects.Methods:We conducted a case-control study.27 cases of pregnant women carrying a fetus with major CHD admitted to our hospital for delivery between April 2021 and August 2022 were selected.Every case was matched with about 2 pregnant complication-free controls without fetal abnormalities.The proangiogenic and anti-angiogenic factors and pregnancy outcomes were compared.Results:The proangiogenic factors include vascular endothelial growth factor(VEGF)and placental growth factor(PlGF).The anti-angiogenic factors involve soluble fms-like tyrosine kinase 1(sFlt-1)and soluble endoglin(sEng).No differences were found in maternal plasma concentrations of PlGF,VEGF,and sFlt-1 between case-control groups when analyzed at 36 weeks≤gestational age(GA)<39 weeks and 39 weeks≤GA≤41 weeks.The concentrations of sEng in maternal plasma in the fetal CHD group were significantly higher than those in the control group:0.60(0.77)vs.0.32(0.26)ng/ml at 36 weeks≤GA<39 weeks,p=0.001 and 0.75(0.55)vs.0.28(0.27)ng/ml at 39 weeks≤GA≤41 weeks,p<0.001.Conclusion:Vascular dysfunction exists in pregnant women with fetal congenital heart defects,manifesting significantly elevated sEng concentration at delivery.展开更多
Background:The management of suspected critical congenital heart defects(CCHD)relies on timely echocardiographic diagnosis.The availability of experienced echocardiographers is limited or even non-existent in many hos...Background:The management of suspected critical congenital heart defects(CCHD)relies on timely echocardiographic diagnosis.The availability of experienced echocardiographers is limited or even non-existent in many hospitals with obstetric units.This study evaluates remote-mentored echocardiography performed by physicians without experience in imaging of congenital heart defects(CHD).Methods:The setup included a pediatric cardiologist in a separate room,guiding a physician without experience in echocardiographic imaging of CHD in the examination of a symptomatic newborn.This remote-mentoring pair was blinded to the diagnosis of the newborn and presented with a simplified patient history.The echocardiographic images were streamed to the laptop of the mentor,along with a webcam feed showing the probe position.The task was to identify CCHD in need of immediate transfer to a pediatric cardiac surgical center.The result was compared to the previously completed echocardiographic report and the clinical decision of the patient-responsible pediatric cardiologist.Results:During 17 months,15 newborns were recruited.All six newborns with CCHD were correctly labeled by the remotementoring pair.One newborn with Tetralogy of Fallot was erroneously labeled as needing immediate transfer.Eight newborns without CCHD were correctly labeled.Conclusions:Remote-mentored echocardiography performed by examiners without experience in imaging CHD identified all newborns with CCHD in need of immediate transfer for specialist care.The setup shows promising results for improving the management of CCHD in hospitals without continuous pediatric cardiology service.展开更多
BACKGROUND: Micro RNAs are small non-coding RNAs of approximately 22 nucleotides in length, and play important regulatory roles in normal heart development and the pathogenesis of heart diseases. Recently, a few prosp...BACKGROUND: Micro RNAs are small non-coding RNAs of approximately 22 nucleotides in length, and play important regulatory roles in normal heart development and the pathogenesis of heart diseases. Recently, a few prospective studies have implicated the diagnostic role of micro RNAs in congenital heart defects(CHD).DATA RESOURCES: This review retrieved the research articles in Pub Med focusing on the altered microR NAs in cardiac tissue or serum of patients with CHD versus healthy normal controls, as well as the studies exploring circulating microR NAs as potential biomarkers for(fetal) CHD.RESULTS: Most of the studies of interest were conducted in recent years, implicating that the topic in this review is a newly emerging field and is drawing much attention. Moreover, a number of differentially expressed microR NAs between CHD specimens and normal controls have been reported.CONCLUSION: Circulating micro RNAs may serve as potential biomarkers for diagnosis of CHD in the future, with more efforts paving the road to the aim.展开更多
This review aims to sum up the improvements witnessed in the field of interventional cardiology during recent times. The last decade has witnessed significant technical advances in the field of radiological imaging an...This review aims to sum up the improvements witnessed in the field of interventional cardiology during recent times. The last decade has witnessed significant technical advances in the field of radiological imaging and also in interventional cardiology which has helped to offer more non-invasive solutions for the management of congenital heart defects. This has resulted from the use of advanced 3-dimensional fusion imaging instead of conventional 2-dimensional angiography, applying interactive real-time enhancement and using computed tomography and Magnetic Resonance Imaging for interventional procedures. Similarly the introduction of next generation devices, have not only improved the final outcome of the procedure but also has helped in reducing the challenges that were faced before and with the initial generation of devices. These advances have helped not only in reducing the radiation exposure, the use of contrast medium dose but also have resulted in improved early survival. The field of neonatal cardiology has advanced at an unprecedented pace. The transcatheter closure of patent ductus arteriosus has evolved over time and now it has been made possible at much lower body weight. Similarly, early use of stents for aortic coarctation has been found effective in some patients, especially when surgical intervention had been denied. The application of the hybrid approach for the management of complex congenital heart defects has also been effectively applied. More recently transcatheter placement of the pulmonary valve has been introduced for severely stenotic and/or regurgitant pulmonary valve in adolescents and adults. It is anticipated that in near future, this procedure would be available for relatively younger patients. In conclusion: last 2 decades have improvised pediatric interventional cardiology to incorporate less invasive solutions for CHD. The current advances in radio-diagnostic imaging, gadgetry and technical expertise have improved significantly and led to manage many of such defects by trans-catheter approach. This has led also, to replace the early surgical intervention with a more subtle hybrid approach, thus reducing not only the major surgical trauma but also been found to be cost-effective due to a shorter hospital stay. But a learning curve for performers is required for optimum results and also such procedures should be performed in a fully developed facility with an optimum surgical backup.展开更多
The objective of the work is to study the topographic and anatomical characteristics of the atrioventricular node’s artery in complex congenital heart defects.The material for the work was the following:44 specimens ...The objective of the work is to study the topographic and anatomical characteristics of the atrioventricular node’s artery in complex congenital heart defects.The material for the work was the following:44 specimens including hearts of fetuses and children of the first three years having congenital defects and 50 specimens of the hearts of a similar age with normal development as the control.A complex of generally accepted morphological methods was used to identify the conductive system of the heart,its blood supply.According to the data obtained given congenital heart defects,the artery of the atrioventricular node arises from an artery,that determines the type of blood supply to the heart.With the full form of the common atrioventricular canal,the presence of the“U”-shaped bend of the coronary artery at the point of departure of the atrioventricular artery from it is inconstant,which is apparently due to the localization of the atrioventricular node in the embryonic position.The intensity of the lateral branches from the artery of the atrioventricular node to the heart partitions is determined by the hemodynamic features with congenital heart defects.展开更多
Aim: To assess basic trends in epidemiology of congenital heart defects (CHDs). Method: Population based prospective observational study. Material: CHDs in infants born alive in a Norwegian county 1982-2011. Results: ...Aim: To assess basic trends in epidemiology of congenital heart defects (CHDs). Method: Population based prospective observational study. Material: CHDs in infants born alive in a Norwegian county 1982-2011. Results: In 828/71 217 infants (12 per 1000) a CHD was diagnosed. The prevalence increased from 8 to 12 per 1000 after introduction of early echocardiography in newborns with suspected CHD from 1986 (p = 0.0001). Ventricular septal defect (VSD) was the dominating CHD (474;57%). In 222 (27%) the CHDs were missed and diagnosed after discharge from hospital after birth. Twelve critical CHDs (causing death or requiring invasive procedures before 28 days of life) were missed. Prenatal diagnosis of critical CHDs increased from 4/67 (6%) born 1997-2006 to 4/11 (36%) born 2007-2011 (p = 0.01). In 177 (21%) a syndrome or extracardial defect occurred. The occurrence of CHDs associated with chromosomal disorders (60/73 (82%) trisomies) more than doubled from the cohort born in the first 10-year period 1982-1991 (0.6 per 1000) to the last 2002-2011 (1.4 per 1000) (p < 0.0001) in parallel with increasing births in women ≥ 35 years old in the population. 237 (29%) underwent therapeutic procedures (203 (86%) surgery, of whom 16 after initial catheter intervention, and 34 (14%) catheter intervention alone). 39/237 (16%) died, 101 (43%) were repaired and 97 (41%) had some minor residual defect. The death rate declined significantly from 65/532 (12%) born 1982-2001 to 11/296 (4%) born 2002-2011 (p = 0.0001). 37/76 (49%) deaths occurred within 28 days after birth. Conclusions: The rate of detection of CHDs increased substantially after introduction of echocardiography in newborns with suspected CHD, especially VSDs. Some critical CHDs were overlooked. The prenatal detection rate of such defects increased. The prevalence of CHDs with associated chromosomal disorders increased in parallel with increasing maternal age in the population. Most deaths occurred during the neonatal period. Increasing survival increases the load on long-term follow-up programmes.展开更多
Objective To explore the multiple risk factors for family lifestyle of children with congenital heart defects(CHDs)in Shaanxi Province,China.Methods A 1∶1 case-control study was carried out to investigate 60 pairs of...Objective To explore the multiple risk factors for family lifestyle of children with congenital heart defects(CHDs)in Shaanxi Province,China.Methods A 1∶1 case-control study was carried out to investigate 60 pairs of children and their parents.The univariate and multivariable logistic regression models were used to analyze the influence of risk factors related to parents’ lifestyle on CHDs.Results Several possible risk factors were found for CHDs,including fever(OR=4.465,P=0.017),pesticides contact(OR=2.234,P=0.083),passive smoking during pregnancy(OR=20.529,P=0.007)and father’s smoking(OR=3.342,P=0.005);fever(OR=2.428,P=0.012)and passive smoking during pregnancy(OR=1.201,P=0.037)were also correlated with ventricular sepal defect(VSD).Conclusion Fever,pesticides contact and passive smoking are associated with CHDs during pregnancy.We should focus our attention on health care during pregnancy to avoid the above-mentioned risk factors and call on parents to hold on to a good healthy lifestyle.展开更多
Objective This study aimed to assess the associations between maternal drug use,cytochrome P450(CYP450)genetic polymorphisms,and their interactions with the risk of congenital heart defects(CHDs)in offspring.Methods A...Objective This study aimed to assess the associations between maternal drug use,cytochrome P450(CYP450)genetic polymorphisms,and their interactions with the risk of congenital heart defects(CHDs)in offspring.Methods A case-control study involving 569 mothers of CHD cases and 652 controls was conducted from November 2017 to January 2020.Results After adjusting for potential confounding factors,the results show that mothers who used ovulatory drugs(adjusted odds ratio[a OR]=2.12;95% confidence interval[CI]:1.08-4.16),antidepressants(a OR=2.56;95%CI:1.36-4.82),antiabortifacients(a OR=1.55;95%CI:1.00-2.40),or traditional Chinese drugs(a OR=1.97;95%CI:1.26-3.09)during pregnancy were at a significantly higher risk of CHDs in offspring.Maternal CYP450 genetic polymorphisms at rs1065852(A/T vs.A/A:OR=1.53,95%CI:1.10-2.14;T/T vs.A/A:OR=1.57,95%CI:1.07-2.31)and rs16947(G/G vs.C/C:OR=3.41,95%CI:1.82-6.39)were also significantly associated with the risk of CHDs in offspring.Additionally,significant interactions were observed between the CYP450 genetic variants and drug use on the development of CHDs.Conclusions In those of Chinese descent,ovulatory drugs,antidepressants,antiabortifacients,and traditional Chinese medicines may be associated with the risk of CHDs in offspring.Maternal CYP450 genes may regulate the effects of maternal drug exposure on fetal heart development.展开更多
Objective Congenital heart defect (CHD) is one of the most common birth anomalies with high morbidity and mortality. Previous studies of CHD mostly focus on the postnatal prevalence, mortality and successful rate of o...Objective Congenital heart defect (CHD) is one of the most common birth anomalies with high morbidity and mortality. Previous studies of CHD mostly focus on the postnatal prevalence, mortality and successful rate of operation, etc. This study aimed to explore the detection rate of prenatal CHD and CHD factors that attribute to termination of pregnancy (TOP).展开更多
Background Evidence remains limited on the association between maternal ozone(O,)exposure and congenital heart defects(CHDs)in offspring,and few studies have investigated the interaction and modification of paternal s...Background Evidence remains limited on the association between maternal ozone(O,)exposure and congenital heart defects(CHDs)in offspring,and few studies have investigated the interaction and modification of paternal smoking on this association.Methods Using a sample including pregnant women at high risk of fetal CHD(with metabolic disease,first-trimester viral infection,family history of CHD,etc.)from a maternal-fetal medicine study covering 1313 referral hospitals in China during 2013-2021,we examined the associations between maternal O_(3)exposure during 3-8 weeks of gestational age and fetal CHD in offspring and investigated the interaction and modification of paternal smoking on this association.CHD was diagnosed by fetal echocardiograms,maximum daily 8-hour average O,exposure data at a 10 km×10 km spatial resolution came from the Tracking Air Pollution in China dataset,and paternal smoking was collected using questionnaires.Logistic regression models were used to estimate adjusted odds ratios(ORs)and 95%confidence intervals(CIs).Results Among 27,834 pregnant women at high risk of fetal CHD,17.4%of fetuses were diagnosed with CHD.Each 10μg/m^(3)increase in maternal O_(3)exposure was associated with a 17%increased risk of CHD in offspring(OR=1.17,95%CI=1.14-1.20).Compared with paternal nonsmoking and maternal low O_(3)exposure,the ORs(95%CI)of CHD for smoking and low O_(3)exposure,nonsmoking and high O_(3)exposure,and smoking and high O_(3)exposure were 1.25(1.08-1.45),1.81(1.56-2.08),and 2.23(1.84-2.71),respectively.Paternal smoking cessation seemingly mitigated the increased risk of CHD.Conclusions Maternal O_(3)exposure and paternal smoking were interactively associated with an increased risk of fetal CHD in offspring,which calls for effective measures to decrease maternal exposure to O_(3)pollution and secondhand smoke for CHDprevention.展开更多
From January 1982 to June 1990, 2730 patients with congenital heart defects (CHDS) were treated at Xinhua Hospital there were 537 cases of complex lesions. Fifty of 537 patients died, the hospital mortality rate was 9...From January 1982 to June 1990, 2730 patients with congenital heart defects (CHDS) were treated at Xinhua Hospital there were 537 cases of complex lesions. Fifty of 537 patients died, the hospital mortality rate was 9.31%. On the basis of our clinical experience, it is important that the accurate diagnosis was made promptly in neonate with complex CHDs. The surgical results can be improved by the use of PGEI and balloon atrial septostomy in the cyanotic neonate. For the congestive CHDs, the operation must be per formed in the early life to prevent pulmonary hypertension. Improved methods of preoperative and postoperative care have contributed to these results.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
Background:Failure to rescue has been an effective quality metric in congenital heart surgery.Conversely,mor-bidity and mortality depend greatly on non-modifiable individual factors and have a weak correlation with be...Background:Failure to rescue has been an effective quality metric in congenital heart surgery.Conversely,mor-bidity and mortality depend greatly on non-modifiable individual factors and have a weak correlation with better-quality performance.We aim to measure the complications,mortality,and risk factors in pediatric patients undergoing congenital heart surgery in a high-complexity institution located in a middle-income country and compare it with other institutions that have conducted a similar study.Methods:A retrospective observational study was conducted in a high-complexity service provider institution,in Cali,Colombia.All pediatric patients undergoing any congenital heart surgery between 2019 and 2022 were included.The main outcomes evaluated in the study were complication,mortality,and failure to rescue rate.Univariate and multivariate logistic regression analysis was performed with mortality as the outcome variable.Results:We evaluated 308 congenital heart sur-geries.Regarding the outcomes,201(65%)complications occurred,23(7.5%)patients died,and the FTR of the entire cohort was 11.4%.The presence of a postoperative complication(OR 14.88,CI 3.06–268.37,p=0.009),age(OR 0.79,CI 0.57–0.96,p=0.068),and urgent/emergent surgery(OR 8.14,CI 2.97–28.66,p<0.001)were the most significant variables in predicting mortality.Conclusions:Failure to rescue is an effective and comparable quality measure in healthcare institutions and is the major contributor to postoperative mortality in congenital heart surgeries.Despite our higher mortality and complication rate,we obtained a comparable failure to rescue rate to high-income countries’health institutions.展开更多
Introduction: Congenital heart disease includes all cardiac and vascular malformations. It accounts for approximately one third of all congenital malformations and is a public health problem, particularly in developin...Introduction: Congenital heart disease includes all cardiac and vascular malformations. It accounts for approximately one third of all congenital malformations and is a public health problem, particularly in developing countries. The aim of this study was to analyze the epidemiological, clinical and paraclinical aspects of congenital heart disease. Methods: This was a retrospective descriptive and analytical study based on the records of 135 patients referred for surgery and followed up in the cardiology department of the Ignace Deen University Hospital, collected in November 2022. Results: Hospital prevalence was 5%. The mean age was 71 months, ranging from 1 month to 19 years. The age group over 24 months was the most represented (62%). The M/F sex ratio was 1.36. Urban origin was predominant (58%). The rate of children not attending school or dropping out was high (16%). Siblings with fewer than 4 children were the most common (88%). A heart murmur was the most frequent sign (78%), followed by cyanosis (36%) and heart failure (29%). The association between heart murmurs and CHD was proven with a p-value Conclusion: CHDs represent the main indication for paediatric cardiac surgery and follow-up (95%). We stress the importance of implementing a screening and management strategy for congenital heart disease.展开更多
In this editorial,we comment on the article by Kong et al published in the recent issue of the World Journal of Cardiology.In this interesting case,the authors present the challenges faced in managing a 13-year-old pa...In this editorial,we comment on the article by Kong et al published in the recent issue of the World Journal of Cardiology.In this interesting case,the authors present the challenges faced in managing a 13-year-old patient with Down syndrome(DS)and congenital heart disease(CHD)associated with pulmonary arterial hypertension.In this distinct population,the Authors underscore the need for early diagnosis and management as well as the need of a multidisciplinary approach for decision making.It seems that the occurrence of CHD in patients with DS adds layers of complexity to their clinical management.This editorial aims to provide a comprehensive overview of the intricate interplay between DS and congenital heart disorders,offering insights into the nuanced diagnostic and therapeutic considerations for physicians.展开更多
Background Cyanotic patients have potential growth retardation and malnutrition due to hypoxemia and other reasons. Ghrelin is a novel endogenous growth hormone secretagogue that has effects on growth and cardiovascul...Background Cyanotic patients have potential growth retardation and malnutrition due to hypoxemia and other reasons. Ghrelin is a novel endogenous growth hormone secretagogue that has effects on growth and cardiovascular activities. The aim of this study was to evaluate the plasma level and myocardial expression of ghrelin and insulin-like growth factor-1 （IGF-1） using an immature piglet model of chronic cyanotic congenital heart defects with decreased pulmonary blood flow. Methods Twelve weanling Chinese piglets underwent procedures of main pulmonary artery-left atrium shunt with pulmonary artery banding or sham operation as control. Four weeks later, hemodynamic parameters were measured. Enzyme-linked immunosorbent assay for plasma ghrelin and IGF-1 level measurement were performed. Ventricular ghrelin and IGF-1 mRNA expressions were measured by quantitative real-time polymerase chain reaction. Results Four weeks after surgical procedure, the cyanotic model produced lower arterial oxygen tension （（68.73±15.09） mmHg）, arterial oxygen saturation （（82.35±8.63）%）, and higher arterial carbon dioxide tension （（51.83±6.12） mmHg）, hematocrit （（42.67±3.83）%） and hemoglobin concentration （（138.17±16.73） g/L） than the control piglets （（194.08±98.79） mmHg, （96.43±7.91）%, （36.9±4.73） mmHg, （31.17±3.71）%, （109.83±13.75） g/L） （all P 〈0.05）. Plasma ghrelin level was significantly higher in the cyanotic model group in comparison to the control （P=0.004）, and the plasma IGF-1 level was significantly lower than control （P=0.030）. Compared with control animals, the expression of ghrelin mRNAs in the ventricular myocardium was significantly decreased in the cyanotic model group （P=0.000）, and the expression of IGF-1 mRNAs was elevated （P=0.001）. Conclusions Chronic cyanotic congenital heart defects model was successfully established. Plasma ghrelin level and myocardial IGF-1 mRNA expression were significantly up-regulated, while plasma iGF-1 level and myocardial ghrelin mRNA expression were down-regulated in the chronic cyanotic immature piglets. The ghrelin system may be an important part of the network regulating cardiac performance.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
Congenital heart defect （CHD） is the most common fetal defects. Copy nmnber variations （CNVs） were demonstrated to be involved in the etiology of CHDs. We report three cases from a family diagnosed as CHDs with a ...Congenital heart defect （CHD） is the most common fetal defects. Copy nmnber variations （CNVs） were demonstrated to be involved in the etiology of CHDs. We report three cases from a family diagnosed as CHDs with a rare novel duplication ofXp22.33-p I 1.22. A 30-year-old woman, gmvida 2 para 0. Her first pregnancy at 2012 was diagnosed to be dichorionic twin pregnancy and her second pregnancy at 2014 was a singleton pregnancy. After a routine ultrasound scan at 22 week＇s gestation, all the fetuses were diagnosed with critical CHDs. The first fetus （male） exhibited tetralogy of Fallot, atrial septal defect, persistent left superior vena cava, and coronary sinus dilatation while the examination of the second fetus （male） revealed atrioventricular septal detect and hypoplastic left heart syndrome. The third fetus （t^male） was also diagnosed with an atrioventricular septaI defect and hypoplastic left heart syndrome. The parents decided to terminate the wegnancy.展开更多
Background:Three-dimensional printing technology may become a key factor in transforming clinical practice and in significant improvement of treatment outcomes.The introduction of this technique into pediatric cardiac...Background:Three-dimensional printing technology may become a key factor in transforming clinical practice and in significant improvement of treatment outcomes.The introduction of this technique into pediatric cardiac surgery will allow us to study features of the anatomy and spatial relations of a defect and to simulate the optimal surgical repair on a printed model in every individual case.Methods:We performed the prospective cohort study which included 29 children with congenital heart defects.The hearts and the great vessels were modeled and printed out.Measurements of the same cardiac areas were taken in the same planes and points at multislice computed tomography images(group 1)and on printed 3D models of the hearts(group 2).Pre-printing treatment of the multislice computed tomography data and 3D model preparation were performed according to a newly developed algorithm.Results:The measurements taken on the 3D-printed cardiac models and the tomographic images did not differ significantly,which allowed us to conclude that the models were highly accurate and informative.The new algorithm greatly simplifies and speeds up the preparation of a 3D model for printing,while maintaining high accuracy and level of detail.Conclusions:The 3D-printed models provide an accurate preoperative assessment of the anatomy of a defect in each case.The new algorithm has several important advantages over other available programs.They enable the development of customized preliminary plans for surgical repair of each specific complex congenital heart disease,predict possible issues,determine the optimal surgical tactics,and significantly improve surgical outcomes.展开更多
基金The San Juan Bautista School of Medicine’s Institutional Review Board approved the study(EMSJBIRB-7-2021).
文摘Background:Given the pervasive issues of obesity and diabetes both in Puerto Rico and the broader United States,there is a compelling need to investigate the intricate interplay among body mass index(BMI),pregesta-tional,and gestational maternal diabetes,and their potential impact on the occurrence of congenital heart defects(CHD)during neonatal development.Methods:Using the comprehensive System of Vigilance and Surveillance of Congenital Defects in Puerto Rico,we conducted a focused analysis on neonates diagnosed with CHD between 2016 and 2020.Our assessment encompassed a range of variables,including maternal age,gestational age,BMI,pregestational diabetes,gestational diabetes,hypertension,history of abortion,and presence of preeclampsia.Results:A cohort of 673 patients was included in our study.The average maternal age was 26 years,within a range of 22 to 32 years.The mean gestational age measured 39 weeks,with a median span of 38 to 39 weeks.Of the 673 patients,274(41%)mothers gave birth to neonates diagnosed with CHD.Within this group,22 cases were linked to pre-gestational diabetes,while 202 were not;20 instances were associated with gestational diabetes,compared to 200 without;and 148 cases exhibited an overweight or obese BMI,whereas 126 displayed a normal BMI.Conclusion:We identified a statistically significant correlation between pre-gestational diabetes mellitus and the occurrence of CHD.However,our analysis did not show a statistically significant association between maternal BMI and the likelihood of CHD.These results may aid in developing effective strategies to prevent and manage CHD in neonates.
基金supported by grants from the Guangzhou Municipal Science and Technology Bureau(Nos.202102080466,202201011423,202206010049,2023B03J0596,2023B03J1254,2023B03J1255)Department of Science and Technology of Guangdong Province(Nos.2020B1111170011,2023A1515012501)+1 种基金the Natural Science Foundation of Guangdong Province(Nos.2023A1515010801,2021A1515011445)the National Natural Science Foundation of China(Nos.82100371,81903287).
文摘Background:Research on fetal congenital heart defect(CHD)mostly focuses on etiology and mechanisms.However,studies on maternal complications or pathophysiology are limited.Our objective was to determine whether vascular dysfunction exists in pregnant women carrying a fetus with congenital heart defects.Methods:We conducted a case-control study.27 cases of pregnant women carrying a fetus with major CHD admitted to our hospital for delivery between April 2021 and August 2022 were selected.Every case was matched with about 2 pregnant complication-free controls without fetal abnormalities.The proangiogenic and anti-angiogenic factors and pregnancy outcomes were compared.Results:The proangiogenic factors include vascular endothelial growth factor(VEGF)and placental growth factor(PlGF).The anti-angiogenic factors involve soluble fms-like tyrosine kinase 1(sFlt-1)and soluble endoglin(sEng).No differences were found in maternal plasma concentrations of PlGF,VEGF,and sFlt-1 between case-control groups when analyzed at 36 weeks≤gestational age(GA)<39 weeks and 39 weeks≤GA≤41 weeks.The concentrations of sEng in maternal plasma in the fetal CHD group were significantly higher than those in the control group:0.60(0.77)vs.0.32(0.26)ng/ml at 36 weeks≤GA<39 weeks,p=0.001 and 0.75(0.55)vs.0.28(0.27)ng/ml at 39 weeks≤GA≤41 weeks,p<0.001.Conclusion:Vascular dysfunction exists in pregnant women with fetal congenital heart defects,manifesting significantly elevated sEng concentration at delivery.
基金This study was funded through a grant from the European Union's Project Horizon 2020 and 5G HEART,under Grant Agreement Number 857034[15]the Norwegian Association for Children with Congenital Heart Disease.
文摘Background:The management of suspected critical congenital heart defects(CCHD)relies on timely echocardiographic diagnosis.The availability of experienced echocardiographers is limited or even non-existent in many hospitals with obstetric units.This study evaluates remote-mentored echocardiography performed by physicians without experience in imaging of congenital heart defects(CHD).Methods:The setup included a pediatric cardiologist in a separate room,guiding a physician without experience in echocardiographic imaging of CHD in the examination of a symptomatic newborn.This remote-mentoring pair was blinded to the diagnosis of the newborn and presented with a simplified patient history.The echocardiographic images were streamed to the laptop of the mentor,along with a webcam feed showing the probe position.The task was to identify CCHD in need of immediate transfer to a pediatric cardiac surgical center.The result was compared to the previously completed echocardiographic report and the clinical decision of the patient-responsible pediatric cardiologist.Results:During 17 months,15 newborns were recruited.All six newborns with CCHD were correctly labeled by the remotementoring pair.One newborn with Tetralogy of Fallot was erroneously labeled as needing immediate transfer.Eight newborns without CCHD were correctly labeled.Conclusions:Remote-mentored echocardiography performed by examiners without experience in imaging CHD identified all newborns with CCHD in need of immediate transfer for specialist care.The setup shows promising results for improving the management of CCHD in hospitals without continuous pediatric cardiology service.
文摘BACKGROUND: Micro RNAs are small non-coding RNAs of approximately 22 nucleotides in length, and play important regulatory roles in normal heart development and the pathogenesis of heart diseases. Recently, a few prospective studies have implicated the diagnostic role of micro RNAs in congenital heart defects(CHD).DATA RESOURCES: This review retrieved the research articles in Pub Med focusing on the altered microR NAs in cardiac tissue or serum of patients with CHD versus healthy normal controls, as well as the studies exploring circulating microR NAs as potential biomarkers for(fetal) CHD.RESULTS: Most of the studies of interest were conducted in recent years, implicating that the topic in this review is a newly emerging field and is drawing much attention. Moreover, a number of differentially expressed microR NAs between CHD specimens and normal controls have been reported.CONCLUSION: Circulating micro RNAs may serve as potential biomarkers for diagnosis of CHD in the future, with more efforts paving the road to the aim.
文摘This review aims to sum up the improvements witnessed in the field of interventional cardiology during recent times. The last decade has witnessed significant technical advances in the field of radiological imaging and also in interventional cardiology which has helped to offer more non-invasive solutions for the management of congenital heart defects. This has resulted from the use of advanced 3-dimensional fusion imaging instead of conventional 2-dimensional angiography, applying interactive real-time enhancement and using computed tomography and Magnetic Resonance Imaging for interventional procedures. Similarly the introduction of next generation devices, have not only improved the final outcome of the procedure but also has helped in reducing the challenges that were faced before and with the initial generation of devices. These advances have helped not only in reducing the radiation exposure, the use of contrast medium dose but also have resulted in improved early survival. The field of neonatal cardiology has advanced at an unprecedented pace. The transcatheter closure of patent ductus arteriosus has evolved over time and now it has been made possible at much lower body weight. Similarly, early use of stents for aortic coarctation has been found effective in some patients, especially when surgical intervention had been denied. The application of the hybrid approach for the management of complex congenital heart defects has also been effectively applied. More recently transcatheter placement of the pulmonary valve has been introduced for severely stenotic and/or regurgitant pulmonary valve in adolescents and adults. It is anticipated that in near future, this procedure would be available for relatively younger patients. In conclusion: last 2 decades have improvised pediatric interventional cardiology to incorporate less invasive solutions for CHD. The current advances in radio-diagnostic imaging, gadgetry and technical expertise have improved significantly and led to manage many of such defects by trans-catheter approach. This has led also, to replace the early surgical intervention with a more subtle hybrid approach, thus reducing not only the major surgical trauma but also been found to be cost-effective due to a shorter hospital stay. But a learning curve for performers is required for optimum results and also such procedures should be performed in a fully developed facility with an optimum surgical backup.
文摘The objective of the work is to study the topographic and anatomical characteristics of the atrioventricular node’s artery in complex congenital heart defects.The material for the work was the following:44 specimens including hearts of fetuses and children of the first three years having congenital defects and 50 specimens of the hearts of a similar age with normal development as the control.A complex of generally accepted morphological methods was used to identify the conductive system of the heart,its blood supply.According to the data obtained given congenital heart defects,the artery of the atrioventricular node arises from an artery,that determines the type of blood supply to the heart.With the full form of the common atrioventricular canal,the presence of the“U”-shaped bend of the coronary artery at the point of departure of the atrioventricular artery from it is inconstant,which is apparently due to the localization of the atrioventricular node in the embryonic position.The intensity of the lateral branches from the artery of the atrioventricular node to the heart partitions is determined by the hemodynamic features with congenital heart defects.
基金the Vestfold Hospital Trust,supporting the study financially.
文摘Aim: To assess basic trends in epidemiology of congenital heart defects (CHDs). Method: Population based prospective observational study. Material: CHDs in infants born alive in a Norwegian county 1982-2011. Results: In 828/71 217 infants (12 per 1000) a CHD was diagnosed. The prevalence increased from 8 to 12 per 1000 after introduction of early echocardiography in newborns with suspected CHD from 1986 (p = 0.0001). Ventricular septal defect (VSD) was the dominating CHD (474;57%). In 222 (27%) the CHDs were missed and diagnosed after discharge from hospital after birth. Twelve critical CHDs (causing death or requiring invasive procedures before 28 days of life) were missed. Prenatal diagnosis of critical CHDs increased from 4/67 (6%) born 1997-2006 to 4/11 (36%) born 2007-2011 (p = 0.01). In 177 (21%) a syndrome or extracardial defect occurred. The occurrence of CHDs associated with chromosomal disorders (60/73 (82%) trisomies) more than doubled from the cohort born in the first 10-year period 1982-1991 (0.6 per 1000) to the last 2002-2011 (1.4 per 1000) (p < 0.0001) in parallel with increasing births in women ≥ 35 years old in the population. 237 (29%) underwent therapeutic procedures (203 (86%) surgery, of whom 16 after initial catheter intervention, and 34 (14%) catheter intervention alone). 39/237 (16%) died, 101 (43%) were repaired and 97 (41%) had some minor residual defect. The death rate declined significantly from 65/532 (12%) born 1982-2001 to 11/296 (4%) born 2002-2011 (p = 0.0001). 37/76 (49%) deaths occurred within 28 days after birth. Conclusions: The rate of detection of CHDs increased substantially after introduction of echocardiography in newborns with suspected CHD, especially VSDs. Some critical CHDs were overlooked. The prenatal detection rate of such defects increased. The prevalence of CHDs with associated chromosomal disorders increased in parallel with increasing maternal age in the population. Most deaths occurred during the neonatal period. Increasing survival increases the load on long-term follow-up programmes.
基金supported by the Tackling Project for Social Development of Committee of Science and Technology of Shaanxi Province(2003K10-G83)
文摘Objective To explore the multiple risk factors for family lifestyle of children with congenital heart defects(CHDs)in Shaanxi Province,China.Methods A 1∶1 case-control study was carried out to investigate 60 pairs of children and their parents.The univariate and multivariable logistic regression models were used to analyze the influence of risk factors related to parents’ lifestyle on CHDs.Results Several possible risk factors were found for CHDs,including fever(OR=4.465,P=0.017),pesticides contact(OR=2.234,P=0.083),passive smoking during pregnancy(OR=20.529,P=0.007)and father’s smoking(OR=3.342,P=0.005);fever(OR=2.428,P=0.012)and passive smoking during pregnancy(OR=1.201,P=0.037)were also correlated with ventricular sepal defect(VSD).Conclusion Fever,pesticides contact and passive smoking are associated with CHDs during pregnancy.We should focus our attention on health care during pregnancy to avoid the above-mentioned risk factors and call on parents to hold on to a good healthy lifestyle.
基金supported by the National Natural Science Foundation Program of China[82073653,81803313,and 81974019]China Postdoctoral Science Foundation[2020M682644]+6 种基金Hunan Provincial Science and Technology Talent Support Project(2020TJ-N07)Natural Science Foundation of Hunan Province[2018JJ2551]Hunan Provincial Key Research and Development Program[2018SK2063 and 2018SK2062]Open Project from NHC Key Laboratory of Birth Defect for Research and Prevention[KF2020006]National Key Research and Development Program of China[2018YFA0108700 and2017YFA0105602]Postgraduate Scientific Research Innovation Project of Hunan Province[grant number CX20200271]Fundamental Research Funds for the Central Universities of Central South University[grant number 2020zzts798]。
文摘Objective This study aimed to assess the associations between maternal drug use,cytochrome P450(CYP450)genetic polymorphisms,and their interactions with the risk of congenital heart defects(CHDs)in offspring.Methods A case-control study involving 569 mothers of CHD cases and 652 controls was conducted from November 2017 to January 2020.Results After adjusting for potential confounding factors,the results show that mothers who used ovulatory drugs(adjusted odds ratio[a OR]=2.12;95% confidence interval[CI]:1.08-4.16),antidepressants(a OR=2.56;95%CI:1.36-4.82),antiabortifacients(a OR=1.55;95%CI:1.00-2.40),or traditional Chinese drugs(a OR=1.97;95%CI:1.26-3.09)during pregnancy were at a significantly higher risk of CHDs in offspring.Maternal CYP450 genetic polymorphisms at rs1065852(A/T vs.A/A:OR=1.53,95%CI:1.10-2.14;T/T vs.A/A:OR=1.57,95%CI:1.07-2.31)and rs16947(G/G vs.C/C:OR=3.41,95%CI:1.82-6.39)were also significantly associated with the risk of CHDs in offspring.Additionally,significant interactions were observed between the CYP450 genetic variants and drug use on the development of CHDs.Conclusions In those of Chinese descent,ovulatory drugs,antidepressants,antiabortifacients,and traditional Chinese medicines may be associated with the risk of CHDs in offspring.Maternal CYP450 genes may regulate the effects of maternal drug exposure on fetal heart development.
文摘Objective Congenital heart defect (CHD) is one of the most common birth anomalies with high morbidity and mortality. Previous studies of CHD mostly focus on the postnatal prevalence, mortality and successful rate of operation, etc. This study aimed to explore the detection rate of prenatal CHD and CHD factors that attribute to termination of pregnancy (TOP).
基金supported by the National Natural Science Foundation of China(82073573 to ZZY,U21A20523 to HYH)the Beijing Key Laboratory of Maternal-Fetal Medicine in Fetal Heart Disease(BZ0308 to HYH)the National Key Research and Development Program of China(2022YFC3703502 to LJ).
文摘Background Evidence remains limited on the association between maternal ozone(O,)exposure and congenital heart defects(CHDs)in offspring,and few studies have investigated the interaction and modification of paternal smoking on this association.Methods Using a sample including pregnant women at high risk of fetal CHD(with metabolic disease,first-trimester viral infection,family history of CHD,etc.)from a maternal-fetal medicine study covering 1313 referral hospitals in China during 2013-2021,we examined the associations between maternal O_(3)exposure during 3-8 weeks of gestational age and fetal CHD in offspring and investigated the interaction and modification of paternal smoking on this association.CHD was diagnosed by fetal echocardiograms,maximum daily 8-hour average O,exposure data at a 10 km×10 km spatial resolution came from the Tracking Air Pollution in China dataset,and paternal smoking was collected using questionnaires.Logistic regression models were used to estimate adjusted odds ratios(ORs)and 95%confidence intervals(CIs).Results Among 27,834 pregnant women at high risk of fetal CHD,17.4%of fetuses were diagnosed with CHD.Each 10μg/m^(3)increase in maternal O_(3)exposure was associated with a 17%increased risk of CHD in offspring(OR=1.17,95%CI=1.14-1.20).Compared with paternal nonsmoking and maternal low O_(3)exposure,the ORs(95%CI)of CHD for smoking and low O_(3)exposure,nonsmoking and high O_(3)exposure,and smoking and high O_(3)exposure were 1.25(1.08-1.45),1.81(1.56-2.08),and 2.23(1.84-2.71),respectively.Paternal smoking cessation seemingly mitigated the increased risk of CHD.Conclusions Maternal O_(3)exposure and paternal smoking were interactively associated with an increased risk of fetal CHD in offspring,which calls for effective measures to decrease maternal exposure to O_(3)pollution and secondhand smoke for CHDprevention.
文摘From January 1982 to June 1990, 2730 patients with congenital heart defects (CHDS) were treated at Xinhua Hospital there were 537 cases of complex lesions. Fifty of 537 patients died, the hospital mortality rate was 9.31%. On the basis of our clinical experience, it is important that the accurate diagnosis was made promptly in neonate with complex CHDs. The surgical results can be improved by the use of PGEI and balloon atrial septostomy in the cyanotic neonate. For the congestive CHDs, the operation must be per formed in the early life to prevent pulmonary hypertension. Improved methods of preoperative and postoperative care have contributed to these results.
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.
基金approved by the Institutional Ethics Committee(approval number 628-2022 Act No.I22-112 of November 02,2022)following national and international recommendations for human research.In。
文摘Background:Failure to rescue has been an effective quality metric in congenital heart surgery.Conversely,mor-bidity and mortality depend greatly on non-modifiable individual factors and have a weak correlation with better-quality performance.We aim to measure the complications,mortality,and risk factors in pediatric patients undergoing congenital heart surgery in a high-complexity institution located in a middle-income country and compare it with other institutions that have conducted a similar study.Methods:A retrospective observational study was conducted in a high-complexity service provider institution,in Cali,Colombia.All pediatric patients undergoing any congenital heart surgery between 2019 and 2022 were included.The main outcomes evaluated in the study were complication,mortality,and failure to rescue rate.Univariate and multivariate logistic regression analysis was performed with mortality as the outcome variable.Results:We evaluated 308 congenital heart sur-geries.Regarding the outcomes,201(65%)complications occurred,23(7.5%)patients died,and the FTR of the entire cohort was 11.4%.The presence of a postoperative complication(OR 14.88,CI 3.06–268.37,p=0.009),age(OR 0.79,CI 0.57–0.96,p=0.068),and urgent/emergent surgery(OR 8.14,CI 2.97–28.66,p<0.001)were the most significant variables in predicting mortality.Conclusions:Failure to rescue is an effective and comparable quality measure in healthcare institutions and is the major contributor to postoperative mortality in congenital heart surgeries.Despite our higher mortality and complication rate,we obtained a comparable failure to rescue rate to high-income countries’health institutions.
文摘Introduction: Congenital heart disease includes all cardiac and vascular malformations. It accounts for approximately one third of all congenital malformations and is a public health problem, particularly in developing countries. The aim of this study was to analyze the epidemiological, clinical and paraclinical aspects of congenital heart disease. Methods: This was a retrospective descriptive and analytical study based on the records of 135 patients referred for surgery and followed up in the cardiology department of the Ignace Deen University Hospital, collected in November 2022. Results: Hospital prevalence was 5%. The mean age was 71 months, ranging from 1 month to 19 years. The age group over 24 months was the most represented (62%). The M/F sex ratio was 1.36. Urban origin was predominant (58%). The rate of children not attending school or dropping out was high (16%). Siblings with fewer than 4 children were the most common (88%). A heart murmur was the most frequent sign (78%), followed by cyanosis (36%) and heart failure (29%). The association between heart murmurs and CHD was proven with a p-value Conclusion: CHDs represent the main indication for paediatric cardiac surgery and follow-up (95%). We stress the importance of implementing a screening and management strategy for congenital heart disease.
文摘In this editorial,we comment on the article by Kong et al published in the recent issue of the World Journal of Cardiology.In this interesting case,the authors present the challenges faced in managing a 13-year-old patient with Down syndrome(DS)and congenital heart disease(CHD)associated with pulmonary arterial hypertension.In this distinct population,the Authors underscore the need for early diagnosis and management as well as the need of a multidisciplinary approach for decision making.It seems that the occurrence of CHD in patients with DS adds layers of complexity to their clinical management.This editorial aims to provide a comprehensive overview of the intricate interplay between DS and congenital heart disorders,offering insights into the nuanced diagnostic and therapeutic considerations for physicians.
基金This work was supported by a grant from the National Natural Science Foundation of China （No. 30972958）.
文摘Background Cyanotic patients have potential growth retardation and malnutrition due to hypoxemia and other reasons. Ghrelin is a novel endogenous growth hormone secretagogue that has effects on growth and cardiovascular activities. The aim of this study was to evaluate the plasma level and myocardial expression of ghrelin and insulin-like growth factor-1 （IGF-1） using an immature piglet model of chronic cyanotic congenital heart defects with decreased pulmonary blood flow. Methods Twelve weanling Chinese piglets underwent procedures of main pulmonary artery-left atrium shunt with pulmonary artery banding or sham operation as control. Four weeks later, hemodynamic parameters were measured. Enzyme-linked immunosorbent assay for plasma ghrelin and IGF-1 level measurement were performed. Ventricular ghrelin and IGF-1 mRNA expressions were measured by quantitative real-time polymerase chain reaction. Results Four weeks after surgical procedure, the cyanotic model produced lower arterial oxygen tension （（68.73±15.09） mmHg）, arterial oxygen saturation （（82.35±8.63）%）, and higher arterial carbon dioxide tension （（51.83±6.12） mmHg）, hematocrit （（42.67±3.83）%） and hemoglobin concentration （（138.17±16.73） g/L） than the control piglets （（194.08±98.79） mmHg, （96.43±7.91）%, （36.9±4.73） mmHg, （31.17±3.71）%, （109.83±13.75） g/L） （all P 〈0.05）. Plasma ghrelin level was significantly higher in the cyanotic model group in comparison to the control （P=0.004）, and the plasma IGF-1 level was significantly lower than control （P=0.030）. Compared with control animals, the expression of ghrelin mRNAs in the ventricular myocardium was significantly decreased in the cyanotic model group （P=0.000）, and the expression of IGF-1 mRNAs was elevated （P=0.001）. Conclusions Chronic cyanotic congenital heart defects model was successfully established. Plasma ghrelin level and myocardial IGF-1 mRNA expression were significantly up-regulated, while plasma iGF-1 level and myocardial ghrelin mRNA expression were down-regulated in the chronic cyanotic immature piglets. The ghrelin system may be an important part of the network regulating cardiac performance.
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.
基金This work was supported by grants from the National Natural Science Foundation of China （N o. 81071159）, Beijing Municipal Science and Technology Commission （No. Z 141107002514006） and Beijing Municipal Administration of Hospital Clinical Medicine Development of Special Foundation （No, XMLX201310）.
文摘Congenital heart defect （CHD） is the most common fetal defects. Copy nmnber variations （CNVs） were demonstrated to be involved in the etiology of CHDs. We report three cases from a family diagnosed as CHDs with a rare novel duplication ofXp22.33-p I 1.22. A 30-year-old woman, gmvida 2 para 0. Her first pregnancy at 2012 was diagnosed to be dichorionic twin pregnancy and her second pregnancy at 2014 was a singleton pregnancy. After a routine ultrasound scan at 22 week＇s gestation, all the fetuses were diagnosed with critical CHDs. The first fetus （male） exhibited tetralogy of Fallot, atrial septal defect, persistent left superior vena cava, and coronary sinus dilatation while the examination of the second fetus （male） revealed atrioventricular septal detect and hypoplastic left heart syndrome. The third fetus （t^male） was also diagnosed with an atrioventricular septaI defect and hypoplastic left heart syndrome. The parents decided to terminate the wegnancy.
基金funded by the Ministry of Science and Higher Education of the Russian Federation as part of the World-Class Research Center Program:Advanced Digital Technologies(Contract No.075-15-2022-311,dated 20.04.2022).
文摘Background:Three-dimensional printing technology may become a key factor in transforming clinical practice and in significant improvement of treatment outcomes.The introduction of this technique into pediatric cardiac surgery will allow us to study features of the anatomy and spatial relations of a defect and to simulate the optimal surgical repair on a printed model in every individual case.Methods:We performed the prospective cohort study which included 29 children with congenital heart defects.The hearts and the great vessels were modeled and printed out.Measurements of the same cardiac areas were taken in the same planes and points at multislice computed tomography images(group 1)and on printed 3D models of the hearts(group 2).Pre-printing treatment of the multislice computed tomography data and 3D model preparation were performed according to a newly developed algorithm.Results:The measurements taken on the 3D-printed cardiac models and the tomographic images did not differ significantly,which allowed us to conclude that the models were highly accurate and informative.The new algorithm greatly simplifies and speeds up the preparation of a 3D model for printing,while maintaining high accuracy and level of detail.Conclusions:The 3D-printed models provide an accurate preoperative assessment of the anatomy of a defect in each case.The new algorithm has several important advantages over other available programs.They enable the development of customized preliminary plans for surgical repair of each specific complex congenital heart disease,predict possible issues,determine the optimal surgical tactics,and significantly improve surgical outcomes.
