Pulmonary Arterial Hypertension Medical Management of the Adult Patient with Congenital Heart Disease

Congenital heart disease(CHD)-associated pulmonary arterial hypertension(PAH)includes a heterogeneous patient population that can be characterized by the underlying cardiac malformation.CHD-associated PAH has an estimated prevalence of 5– 10% in adult patients,with an increasing number of patients surviving to adulthood because of advances in the surgical management and the development of pulmonary arterial hypertension(PAH)-targeted pharmacotherapy.Although limited data exist,targeted PAH pharmacotherapy has proven to be benefi cial in patients with CHD-associated PAH,with observed improvement in functional class,increase in exercise capacity,and improvement in quality of life and cardiopulmonary hemodynamics.Additionally,there has been increasing interest in the“treat-to-close”strategy.PAH-targeted pharmacotherapy may be used to optimize cardiopulmonary hemodynamics so as to improve patients’operability in repairing the cardiac defect.Although there have been signifi cant advances in the management of this disease state in the past 2 decades,mortality remains high,and ongoing clinical trials are needed to better understand the treat-to-close strategy.

Adult Congenital Heart Disease in the Veteran Population:A Case-Based Report

Simple forms of congenital heart disease can allow patients to go undiagnosed until they reach adulthood.Furthermore,improvements in care of patients with complex congenital heart disease are now allowing most patients to reach adulthood.As some patients with adult congenital heart disease can remain asymptomatic until later in life,it is possible for them to serve in the military and eventually fall under the care of Veterans Administration(VA)providers.Therefore it is important for providers,especially cardiologists at VA centers,to have fundamental understanding of the management of adult congenital heart disease.This article provides multiple cases of adult congenital heart disease experienced at a single VA medical center and reviews the anatomy,physiology,and surgical management of each condition.

Identification of a novel MYO1D variant associated with laterality defects,congenital heart diseases,and sperm defects in humans

The establishment of left–right asymmetry is a fundamental process in animal development.Interference with this process leads to a range of disorders collectively known as laterality defects,which manifest as abnormal arrangements of visceral organs.Among patients with laterality defects,congenital heart diseases(CHD)are prevalent.Through multiple model organisms,extant research has established that myosin-Id(MYO1D)deficiency causes laterality defects.This study investigated over a hundred cases and identified a novel biallelic variant of MYO1D(NM_015194:c.1531G>A;p.D511N)in a consanguineous family with complex CHD and laterality defects.Further examination of the proband revealed asthenoteratozoospermia and shortened sperm.Afterward,the effects of the D511N variant and another known MYO1D variant(NM_015194:c.2293C>T;p.P765S)were assessed.The assessment showed that both enhance the interaction withβ-actin and SPAG6.Overall,this study revealed the genetic heterogeneity of this rare disease and found that MYO1D variants are correlated with laterality defects and CHD in humans.Furthermore,this research established a connection between sperm defects and MYO1D variants.It offers guidance for exploring infertility and reproductive health concerns.The findings provide a critical basis for advancing personalized medicine and genetic counseling.

Right Axillary Thoracotomy Should Be the Standard of Care for Repair of Non-Complex Congenital Heart Defects in Infants and Children

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.

A novel variant in TBX20 （p.DI76N） identified by whole-exome sequencing in combination with a congenital heart disease related gene filter is associated with familial atrial septal defect

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.

CHDbase:A Comprehensive Knowledgebase for Congenital Heart Disease-related Genes and Clinical Manifestations

Congenital heart disease(CHD)is one of the most common causes of major birth defects,with a prevalence of 1%.Although an increasing number of studies have reported the etiology of CHD,the findings scattered throughout the literature are difficult to retrieve and utilize in research and clinical practice.We therefore developed CHDbase,an evidence-based knowledgebase of CHD-related genes and clinical manifestations manually curated from 1114 publications,linking 1124 susceptibility genes and 3591 variations to more than 300 CHD types and related syndromes.Metadata such as the information of each publication and the selected population and samples,the strategy of studies,and the major findings of studies were integrated with each item of the research record.We also integrated functional annotations through parsing50 databases/tools to facilitate the interpretation of these genes and variations in disease pathogenicity.We further prioritized the significance of these CHD-related genes with a gene interaction network approach and extracted a core CHD sub-network with 163 genes.The clear genetic landscape of CHD enables the phenotype classification based on the shared genetic origin.Overall,CHDbase provides a comprehensive and freely available resource to study CHD susceptibilities,supporting a wide range of users in the scientific and medical communities.CHDbase is accessible at http://chddb.fwgenetics.org.

Congenital heart“Challenges”in Down syndrome

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.

Genetic Analysis of Variants of the MYH6 Gene Promoter in Congenital Atrial Septal Defects

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.

A 49-year-old male with sleep-disordered breathing and nocturnal paroxysmal dyspnea after congenital heart defect correction

Rationale PH is a pathophysiological disorder involving multiple clinical conditions and is often concomitant with other cardiopulmonary diseases,and related differential diagnosis is quite tricky for its various etiologies.Patient characteristics A 49-year-old man presented with 1-year history of nocturnal paroxysmal dyspnea and was transferred to our hospital.

Percutaneous closure of congenital Gerbode defect using Nit-Occlud^®LêVSD coil

We present a case report about percutaneous closure of a congenital Gerbode defect using Nit-Occlud~? Lê VSD coil. The patient was referred to our hospital with a diagnosis of ventricular septal defect(VSD) and severe pulmonary arterial hypertension. But transthoracic echocardiography revealed a communication between the left ventricle(LV) and the right atrial(RA), called Gerbode defect. Catheterization confirmed the shunt from the LV to the RA. We successfully closed the defect with a VSD coil. After uneventful 6 mo follow-up, the patient was out of dyspnea, the symptom urged him to have medical attention. This case report is to discuss the diagnosis and percutaneous treatment approach for this rare congenital heart disease.

Ellis-Van-Creveld Syndrome and Congenital Cardiac Anomaly: Common Atrium with Atrioventricular Canal Septal Defect

Background: Children presenting with physical features of chondro-ectodermal dysplasia (Ellis-Van Creveld syndrome) such as skeletal and joint abnormalities often have concomitant congenital cardiac anomalies. Presence of cardiorespiratory symptoms in children with Ellis-Van Craved syndrome warrants a thorough cardiologic evaluation to recognize and treat underlying congenital heart anomaly. Aim: A child with physical stigmata of Ellis-Van-Creveld syndrome is evaluated to detect an associated congenital cardiac anomaly and accomplish successful repair of the underlying cardiac lesion to reduce the cardiac related morbidity and improve the patient survival. Case Presentation: Ten years old boy with chondroectodermal dysplasia (dental anomalies, genu valgum and other skeletal abnormalities) presented with dyspnea and cyanosis. Cardiac evaluation by 2D echo revealed an atrioventricular (AV) canal septal defect with AV valve regurgitation and a common atrium. Angiocardiography showed a goose neck deformity of the left ventricular outflow tract. The Qp/Qs was 3.4: 1, with systemic arterial oxygen desaturation (SaO2 of 0.7) and O2 saturation in the common atrium was 0.7. The pulmonary venous connections to the common atrium were anomalous. Atriotomy on cardiopulmonary bypass and on a cardioplegic arrest discerned a partial AV canal septal defect with a common bridging leaflet, clefts in septal leaflets of tricuspid and mitral vlalves, an incompletely closed interventricular communication, and a common atrium with highly anomalous pulmonary venous insertions well anterior (8 cm) to vena caval orifices. Intracardiac repair was performed with two patches of Goertex to partition the common atrium into the pulmonary and systemic venous chambers after repair of the partial AV canal septal defect. Patient required only a temporary afterload reduction with enalapril;otherwise patient had an uneventful postoperative course. At a 2-year follow-up, the child was well without AV valve regurgitation and had normal biventricular function. Conclusion: A child with Ellis-Van-Creveld syndrome with skeletal abnormalities and dental anomalies had manifested with cardio-respiratory symptoms. Preoperative cardiac and intraoperative evaluation showed a common atrium with severely anomalous pulmonary venous connection and partial AV canal septal defect. Successful biventricular repair was accomplished by repairing the partial AV canal septal defect and partitioning the common atrium into left and right atrium by a complex atrial routing technique with two patches of Gore-Tex. On a follow-up at 2 years, the patient had adequate biventricular function without AV valve regurgitation. 114264

Ventricular Septal Defects at the Souro Sanou University Hospital Center (CHUSS): Ultrasound, Therapeutic and Evolutionary Aspects of 88 Cases

Background: There is a need for data on epidemiological, clinical and therapeutic aspects of ventricular septal defect among children in?Sub-Saharan Africa. Objective: The aim of this study was to determine the prevalence, epidemioclinical, echocardiographic, therapeutic and evolutionary aspects of ventricular septal defects (VSD) in the pediatric department of the University Hospital Center (CHUSS) of Bobo-Dioulasso. Methods: This study was a descriptive cross-sectional study, conducted from November 2013 to December 2016. All children aged 1 to 179 months seen at the pediatric consultation in CHUSS were included. CIV was confirmed with Doppler echocardiography. Results: Out of 36,240 children who received consultation in the pediatric ward of CHUSS during the study period, one hundred (100) cases of them had congenital heart disease representing a hospital prevalence of 2.76%. This was diagnosed with Doppler echocardiography. Of these, 88% were VSD isolated or associated with other cardiac malformations. Isolated form was reported in 54.3% of cases. The average?age at diagnosis was 39.6 months. The sex ratio was 1.05. Perimembranous topography and hemodynamic type 2 were the highest, representing 56.8% and 35.2% respectively. The indication for surgical repair was recommended for 81.8% of the cases, but only 9.7% of these cases benefited from cardiac surgery. The rest were for medicalcare with a high proportion of lost to follow-up (48.9%). Conclusion: VSD is the most common congenital heart disease. Its care is mainly surgical. This cardiac surgery is non-existent in Burkina Faso. The design of multidisciplinary strategies associated with an optimization of the means of the countries of Sub-Saharan Africa could improve the management of this cardiopathy.

儿童肌部室间隔缺损的介入治疗研究

目的探讨应用Cardi-O-Fix Plug封堵器治疗儿童肌部室间隔缺损(muscular ventricle septal defect,mVSD)的有效性和安全性。方法将昆明医科大学第一附属医院从2015年7月至2021年6月心内科收治的14例mVSD患儿作为研究对象。分为实验组(14例)和对照组(10例),实验组采用Cardi-O-Fix Plug封堵器进行封堵,对照组采用Cardi-O-Fix mVSD封堵器进行封堵。术后1d以及随访1个月、3个月、6个月采用经胸超声心动图和心电图评价封堵疗效及并发症的发生情况。结果24例患儿中22例成功封堵,2例封堵失败(实验组和对照组各1例),实验组成功率92.8%(13/14),对照组成功率90.0%(9/10)。实验组的平均手术时长(71.93±14.85)min,对照组的平均手术时间时长(90.70±19.78)min,二者比较差异有统计学意义(P<0.05)。实验组和对照组在术中及随访期间均未出现严重并发症。比较不同时间点2组的心脏超声指标(包括左室射血分数、左室舒张末期内径以及肺动脉压),差异均无统计学意义(P>0.05)。结论采用Cardi-O-Fix Plug封堵器在经皮导管封堵心尖部及小梁部的儿童mVSD手术安全有效,短期及中长期发生心律失常的概率低。

Impact of Atrial Septal Defect Closure on Mortality in Older Patients

Background:Atrial septal defect(ASD)is a common form of adult congenital heart disease that can lead to long-term adverse outcomes if left untreated.Early closure of ASD has been associated with excellent outcomes and lower complication rates.However,there is limited evidence regarding the prognosis of ASD closure in older adults.This study aims to evaluate the mortality rates in older ASD patients with and without closure.Methods:A retrospective cohort study was conducted on patients aged 40 years or older with ASD between 2001 and 2017.Patients were followed up to assess all-cause mortality.Univariable and multivariable analyses were performed to identify the predictors of mortality.A p-value of<0.05 was considered statistically significant.Results:The cohort consisted of 450 patients(mean age 56.6±10.4 years,77.3%female),with 66%aged between 40 and 60 years,and 34%over 60 years.Within the cohort,299 underwent ASD closure(201 with transcatheter and 98 with surgical closure).During the median follow-up duration of 7.9 years,51 patients died.The unadjusted cumulative 10-year rate of mortality was 3%in patients with ASD closure,and 28%in patients without ASD closure(log-rank p<0.001).Multivariable analysis revealed that age(hazard ratio[HR]1.04,95%confidence interval[CI]1.006–1.06,p=0.01),NYHA class(HR 2.75,95%CI 1.63–4.62,p<0.001),blood urea nitrogen(BUN)(HR 1.07,95%CI 1.03–1.12,p<0.001),right ventricular systolic pressure(RVSP)(HR 1.07,95%CI 1.003–1.04,p=0.01),and lack of ASD closure(HR 15.12,95%CI 5.63–40.59,p<0.001)were independently associated with mortality.Conclusion:ASD closure demonstrated favorable outcomes in older patients.Age,NYHA class,BUN,RVSP,and lack of ASD closure were identified as independent factors linked to mortality in this population.

Isolated Ventricular Septal Defect: Ultrasound, Therapeutic and Evolutionary Aspects of 85 Cases in the Cardiology Department of the Ignace Deen National Hospital in Conakry

Introduction: Ventricular septal defect (VSD) is the most common congenital heart disease of all congenital heart defects. The aim of this study was to investigate the echographic, therapeutic and evolutionary aspects of ventricular septal defects (VSD) in the general cardiology department of the Hôpital National Ignace Deen. Methods: A retrospective data collection was carried out from January 2018 to December 2023 including 85 cases of isolated IVC was performed. The variables studied were epidemiological, clinical, paraclinical, therapeutic and evolutionary. Results: Of the 320 patients seen during the study period for congenital heart disease, 85 (26.556%) were isolated IVCs. Age at diagnosis ranged from 3 months to 16 years, with an average age of 3.59 years. The most represented ethnic group was the Fulani (50.58%). The 8.24% came from consanguineous marriage versus 22.35%. 91.76% of children had a history of bronchitis. The most common clinical signs found were systolic murmur (90.58%), growth retardation (51.76%). Only 4 cases (4.70%) had a malformation associated with IVC represented by DiGeorges disease (2.35%) and trisomy 21 (2.35%). Nearly half the patients had type IIb VIC (44.71%). The other half were represented by type 1 (18.82%), type IIa (20%), type III (10.59%) and type IV (5.88%). According to site more than two-thirds of VICs (71.64%) were perimembranous in location, followed by infundibular (16.47%) and muscular (11.76%) VICs. In our study 55.29% presented an indication for both surgical intervention and medical treatment, while 16.47% required only medical treatment. In contrast, 28.23% were placed under exclusive surveillance. Of the 47 patients for whom surgery was indicated, 29 (61.17%) underwent surgical repair, while 18 (38.83%) were awaiting confirmation for surgery. Conclusion: VIC is the most common congenital heart disease. An early detection strategy and the establishment of specialized centers could improve the outcome of these children.

妊娠合并房间隔缺损并发醒后卒中1例报道

妊娠期缺血性卒中发病率低、致死率高。本文通过回顾1例妊娠合并有房间隔缺损并发醒后卒中患者的临床及影像学检查资料,探讨妊娠相关卒中的影像学表现、发病机制和治疗策略,旨在提高临床医师对合并有房间隔缺损的孕妇并发急性脑卒中的认识,为临床诊疗提供参考。

安康市2017—2021年围产儿出生缺陷监测及先天性心脏病影响因素分析

目的 了解陕西省安康市近五年(2017—2021年)围产儿出生缺陷发生情况及变化趋势,分析围产儿发生先天性心脏病(CHD)的影响因素,为制定有效的出生缺陷防治策略提供科学依据.方法 依据陕西省妇幼健康信息系统中的有关数据,回顾性分析2017—2021年安康市各助产医疗机构围产儿出生缺陷资料.采用病例对照研究设计,选择孕满28周至出生后7天明确诊断为CHD的围产儿为病例组(200例),选择同期诊断为非CHD的出生缺陷儿为对照组(400例),以单因素分析和多因素Logistic回归分析CHD的影响因素.结果 2017~—2021年共监测安康市围产儿126077例,其中发生出生缺陷1116例,出生缺陷总体发病率为88.52~/万;围产儿出生缺陷发生的前5顺位为CHD(29.90~/万)、多指(趾)(13.72~/万)、唇腭裂(7.54~/万)、外耳其他畸形(6.11~/万)、马蹄内翻足(5.79~/万).2017~—2021年安康市出生缺陷发病率由63.89~/万持续上升至131.96~/万,2021年比2017年增长了约2.07倍,有显著的上升趋势(χ^(2)趋势=106.074,P<0.001);其中CHD发病率上升明显(χ^(2)趋势=81.109,P<0.001).2017~—2021年监测的377例CHD出生缺陷围产儿中,动脉导管未闭、房间隔缺损、室间隔缺损、法洛四联症为4种最常见的CHD,依次占32.10%、24.14%、13.79%、9.02%;其中复合多种亚型的CHD(房间隔缺损+动脉导管未闭、房间隔缺损+室间隔缺损、房间隔缺损+肺动脉瓣狭窄)围产儿有12人,占3.18%.单因素分析显示,病例组与对照组围产儿胎龄及产妇围孕期的自然流产史和烟草暴露史的分布比较差异均有统计学意义(χ^(2)值分别为13.187、5.280、12.927,P<0.05).多因素Logistic回归分析显示,非足月儿(胎龄<37周)(OR=1.834,95%CI:1.196~2.812)和产妇围孕期有烟草暴露史(OR=1.914,95%CI:1.081~3.387)均是围产儿发生CHD的危险因素(P<0.05).结论 加强健康宣教,做好孕期保健,保障足月胎龄分娩,远离烟草等不良暴露,积极参与出生缺陷防控相关的惠民项目,其均是预防出生缺陷发生的有效策略.

房间隔缺损相关肺动脉高压机制及治疗进展

房间隔缺损(ASD)是常见的先天性心脏病,部分患者可能会并发肺动脉高压,对治疗和预后产生重大影响。虽然分流是先天性心脏病患者发生肺动脉高压的决定性因素,但部分患者的分流量并不足以解释肺动脉高压的严重程度。因此,阐明ASD相关肺动脉高压多方面的发病机制,对于认识肺动脉高压的发生发展过程和指导ASD的治疗具有重要意义。现就ASD相关肺动脉高压的病理生理学机制、危险因素和治疗策略的研究进展做一综述,为此类患者的诊治提供参考。

体外循环期间保持机械通气对学龄前先天性心脏畸形矫治术患儿术后肺部并发症发生率的影响

【目的】探讨体外循环(CPB)期间保持机械通气对行先天性心脏畸形矫治术的学龄前期患儿术后肺部并发症(PPCs)、动脉氧合以及术后预后的影响。【方法】前瞻性选取2023年7月至2024年7月在本院心胸外科拟行侧切口先天性心脏畸形矫治术的64例患儿,采用随机数字表法将其分为观察组(CPB期间阻断上下腔后继续机械通气)和对照组(CPB期间阻断上下腔后未继续机械通气),每组32例。比较两组围术期指标、PPCs发生率,以及CPB开始(T_(0))、阻断上下腔静脉(T_(1))、阻断主动脉(T_(2))、CPB结束(T_(3))、手术结束(T_(4))、术后1 h(T_(5))的氧合指数(PaO 2/FiO 2)。【结果】观察组患儿术后机械通气时间、心胸外科监护室(CCU)停留时间均短于对照组,C反应蛋白、乳酸水平低于对照组,术后血管活性药-正性肌力药评分(VIS)低于对照组,差异有统计学意义(P<0.05)。观察组患儿PPCs发生率低于对照组,差异有统计学意义(P<0.05)。T_(2)、T_(3)、T_(4)、T_(5)时,观察组PaO 2/FiO 2均显著高于对照组,差异有统计学意义(P<0.05)。【结论】在体外循环期间保持机械通气能够降低PPCs发生率,可改善儿心脏畸形矫治术患儿的预后。