Management Of Congenital Heart Defects Research Articles

P59 Multicentric osteolysis nodulosis and arthropathy syndrome: a case report in Erbil - Iraq

Abstract Introduction Multicentric osteolysis nodulosis and arthropathy (MONA) is inherited in an autosomal recessive manner. At conception, each sib of an affected individual has a 25% chance of being affected, a 50% chance of being an asymptomatic carrier, and a 25% chance of being unaffected and not a carrier. Once the MMP2 pathogenic variants have been identified in an affected family member, it is a skeletal dysplasia characterized by progressive osteolysis (particularly of the carpal and tarsal bones), osteoporosis, subcutaneous nodules on the palms and soles, and progressive arthropathy (joint contractures, pain, swelling, and stiffness). Case description The patient is a 15-year-old female living in Erbil, Kurdistan. Her condition started when she was 10 months old, as she began walking and experienced recurrent sore throat. At age 4 year, she had a history of falling, developed stiffness and contracture in her elbow that made it difficult to move. A few months later, she developed a painful swelling/mass in her left foot that interfered with her walking. She had delayed tooth eruption, with only 2 teeth appearing per 2 years, her fontanelle did not close until age 3 years. At age 4, she had a fall that caused stiffness in her right hand. Over the next few years, she developed masses/swelling and pain/stiffness in her feet, hands, elbows, knees, and ankles, leading to deformities. She did not have any hearing problems but missed 3 years of school due to her condition. Back pain started 3 years ago and has been decreasing Family History: Her sister, at age 4, had pain and mild swelling in her hands and feet, along with facial abnormalities. Another 4-year-old child in the family was admitted to the ICU with similar symptoms. Complete blood count, serum biochemistry, rheumatoid profile was normal. Ultrasound of abdomen and ECHO was normal. On radiological imaging done for hands, feet, spine, in which in hands has diffuse generalized osteopenia, decrease joint spaces, resorptions of the phalanges, or cortical thinning and expansion of the phalangeal, metacarpal and metatarsal bone with deformity, and in x-ray of spine shows osteopenia with scoliosis. Dexa scan done for hip and spine which reveals (-6) severe osteoporosis. The results of genetic testing on 26th of October, led to the diagnosis of MONA syndrome. The patient was started on supportive treatment (alendronate tablet 70 mg per week, Vit D tablet 5000 IU per day, NSAID for pain and physiotherapy). Discussion The existing literature on MONA syndrome has broadly characterized the skeletal manifestations in the hands and feet. However, more detailed information is needed regarding specific skeletal involvement, ray involvement (which fingers/toes are affected), type and number of joints affected, laterality (whether the involvement is symmetrical or asymmetrical), type and severity of deformities, characteristic sparing of individual joints, if any longitudinal studies could help track the chronological order of joint involvement, especially in the larger or proximal joint Research on MONA syndrome has described the skeletal manifestations in the hands and feet, but further study is needed to understand the specifics of ray involvement, joint involvement, laterality, and severity of deformity. Longitudinal studies can help track the progression of joint involvement, particularly in larger joints. The recurrence of symptoms after orthopedic surgery in one patient highlights the progressive nature of the syndrome and suggests that early surgical intervention may not be effective. Due to the rarity of MONA syndrome, it is difficult to fully understand the pattern of the syndrome’s phenotype. Furthermore, reported correlations between the syndrome’s genetic and phenotypic characteristics have been inconsistent and inconclusive The treatment for MONA syndrome is primarily supportive and includes physical therapy to slow the development of contractures and prolong mobility. Pain relief may not be achieved through medication unless the pain is caused by secondary osteoarthritis or contractures. Additionally, daily recommended supplementation of vitamin D and calcium; standard management of congenital heart defects; management of scoliosis and kyphosis per orthopedist. Key learning points • The complicated diagnostic process for MONA syndrome necessitates a re-review of the reported phenotype-genotype correlations. By expanding the understanding of the phenotype, including the detailed skeletal manifestations, the goal is to reach a consensus on the diagnostic criteria for MONA syndrome. The aim of this case report was to systematically describe the clinical manifestations, with a focus on the skeletal features, in children with molecularly confirmed MONA syndrome, and to establish relevant phenotype-genotype correlations.

Characterization of pediatric porcine pulmonary valves as a model for tissue engineered heart valves

Heart valve tissue engineering holds the potential to transform the surgical management of congenital heart defects affecting the pediatric pulmonary valve (PV) by offering a viable valve replacement. While aiming to recapitulate the native valve, the minimum requirement for tissue engineered heart valves (TEHVs) has historically been adequate mechanical function at implantation. However, long-term in situ functionality of TEHVs remains elusive, suggesting that a closer approximation of the native valve is required. The realization of biomimetic engineered pediatric PV is impeded by insufficient characterization of healthy pediatric tissue. In this study, we comprehensively characterized the planar biaxial tensile behaviour, extracellular matrix (ECM) composition and organization, and valvular interstitial cell (VIC) phenotypes of PVs from piglets to provide benchmarks for TEHVs. The piglet PV possessed an anisotropic and non-linear tension-strain profile from which material constants for a predictive constitutive model were derived. The ECM of the piglet PV possessed a trilayer organization populated by collagen, glycosaminoglycans, and elastin. Biochemical quantification of ECM content normalized to wet weight and DNA content of PV tissue revealed homogeneous distribution across sampled regions of the leaflet. Finally, VICs in the piglet PV were primarily quiescent vimentin-expressing fibroblasts, with a small proportion of activated α-smooth muscle actin-expressing myofibroblasts. Overall, piglet PV properties were consistent with those reported anecdotally for pediatric human PVs and distinct from those of adult porcine and human PVs, supporting the utility of the properties determined here to inform the design of tissue engineered pediatric PVs. Statement of significanceHeart valve tissue engineering has the potential to transform treatment for children born with defective pulmonary valves by providing living replacement tissue that can grow with the child. The design of tissue engineered heart valves is best informed by native valve properties, but native pediatric pulmonary valves have not been fully described to date. Here, we provide comprehensive characterization of the planar biaxial tensile behaviour, extracellular matrix composition and organization, and valvular interstitial cell phenotypes of pulmonary valves from piglets as a model for the native human pediatric valve. Together, these findings provide standards that inform engineered heart valve design towards generation of biomimetic pediatric pulmonary valves.

Innovations in transplant techniques for complex anomalies.

With advances in the field of congenital cardiac surgery and in the management of congenital heart defects in early life, the population of adult congenital heart disease (ACHD) patients is increasing. End-stage heart failure is currently the main cause of cardiovascular mortality and is expected to increase in the coming years. This review summarizes recent innovations in transplant techniques, with special attention to what is known in the population of ACHD recipients. The use of machine perfusion for heart preservation enables longer preservation times. Normothermic (organ care system - OCS) and hypothermic (hypothermic oxygenated perfusion - HOPE) machine perfusion will alleviate the time pressure associated with heart transplantation in the ACHD population, may allow for expansion of the geographical range in which donors can be matched and may improve graft quality. Donation after circulatory death (DCD) heart transplantation, either through direct procurement-machine perfusion (DP-MP) or thoraco-abdominal normothermic regional perfusion (TA-NRP) is a viable strategy to further expand the donor pool. The use of machine perfusion and DCD donors in ACHD is feasible and shows promise. Time pressure and shortage of donors is even more critical in ACHD than in other patient populations, making these innovations particularly relevant. Further clinical experience and research is needed to elucidate their impact.

Cardiac Catheterization Post Congenital Cardiac Surgery: Analysis of Risk Factors for Mortality and Literature Review.

Background Diagnostic and interventional cardiac catheterization plays a significant role in the management of congenital heart defects with acceptable risks. Its role has also evolved in sick children but is associated with higher risks due to technical difficulties and co-morbidity factors. Some of the post-cardiac surgery children who show resistance to conventional management during the early postoperative period usually have residual defects or obstructions. Trans-catheter intervention (TCI) in such high-risk circumstances and relatively sick children is challenging, demands much expertise, and should be backed up by a competent multidisciplinary team. Some cases improve clinically, while others may require surgical or transcatheter re-intervention for a positive outcome. There is minimal data so far regarding the major complications after interventional cardiac catheterization during the immediate postoperative period after cardiac surgery.We analyzed multiple factors, including age, sex, weight, the initial diagnosis, and the time interval between surgery and TCI, to stratify the possible risks for mortality after TCI during the immediate postoperative period after cardiac surgery. Results Thirty-five patients fulfilled the inclusion criteria and underwent 43 interventional procedures. Five patients could not survive.Four had stent angioplasties on natural vasculature and one patient had in synthetic conduit. None of the mortality was related to the procedure.Multivariable risk factor analysis confirmed a moderate positive correlation coefficient (r) of 0.8017 between the variables. Still, it was not statistically significant if compared among subgroups or among the mortality and survival groups. Conclusion Interventional cardiac catheterization in sick children during the immediate postoperative period can be carried out without much-added risks in expert hands and under the supervision of a multi-disciplinary team.Though no conclusions could be drawn, our study adds to the limited existing data that could inspire others to perform such procedures on sick children. Moreover, the trend in our results indicated a large sample size could have identified a possible risk factor for mortality.

Tissue inhibitor of metalloproteinase-2 in patients aged 1 month to 1 year with and without cardiac surgery-associated acute kidney injury in congenital heart disease surgery with cardiopulmonary bypass: a single-center retrospective study

Introduction: Acute kidney injury is a common complication of cardiac surgery after management of congenital heart defects. Cardiac surgery-associated acute kidney injury (CS-AKI) results in longer stays of patients in the intensive care unit and hospital. However, using an increase in postoperative creatinine as a means of detecting AKI has some limitations, since significant changes occur after the loss of more than 50% of renal function. In children, the creatinine level is influenced by various factors such as muscle mass, cardiac output, etc. These factors vary significantly among young children and complicate the early diagnosis of AKI. Recent studies have explored biomarkers as potential predictors for the early detection of CS-AKI after cardiac surgery for management of congenital heart disease in children.Objective: To evaluate the urinary tissue inhibitor of metalloproteinase-2 (TIMP2) as a predictor of CS-AKI following management of congenital heart defects in children aged 1 month to 1 year who underwent cardiopulmonary bypass.Methods: A single-center retrospective study included patients aged 1 month to 1 year who underwent cardiopulmonary bypass for the correction of congenital heart defects. The groups were formed based on the presence of CS-AKI. The study group comprised of patients who had CS-AKI (group 1, n = 52), while those without CC-AKI constituted the control group (group 2, n = 98). To ensure minimal systematic errors and comparability between two groups, propensity score matching analysis was performed (52 patients in groups 1 and 2). Preoperative, intraoperative, and postoperative parameters and characteristics were compared.Results: The results showed no differences in baseline or demographic characteristics between the patients. In the study group, 34.6% of patients were diagnosed with CS-AKI. Among them, 67.4% (n = 35) were stage 1, 28.8% (n = 15) were stage 2, and 3.8% (n = 2) were stage 3. The results of the regression analysis show a decrease by 24% and an increase by 9 and 16% in CS-AKI respectively, with an increase in creatinine levels by 1 µmol/l, at baseline and on days 3 and 4. Additionally, male patients have a 76% lower likelihood to develop CS-AKI. It was observed that there was no significant difference in the tissue inhibitor of metalloprotease-2 levels between the groups with and without CS-AKI.Conclusion: Urinary TIMP2 levels were found to be unable to predict the early onset of CS-AKI in congenital heart defect patients ages 1 month to 1 year who underwent cardiopulmonary bypass surgery. Received 24 April 2023. Revised 27 November 2023. Accepted 28 November 2023. Funding: The study did not have sponsorship. Conflict of interest: The authors declare no conflict of interest. Contribution of the authors: The authors contributed equally to this article.

Editorial: Congenital Heart Defects in Pakistan: Addressing Challenges and Enhancing Care

Introduction:
 Congenital heart defects (CHDs) are a significant health concern worldwide, affecting millions of infants each year. In Pakistan, the prevalence of CHDs is alarmingly high, posing a considerable burden on the healthcare system and placing numerous families in distress. This editorial aims to shed light on the challenges associated with CHDs in Pakistan and highlight the need for improved strategies and resources to enhance the care and outcomes for affected individuals.
 
 High Prevalence:
 Pakistan witnesses a high incidence of CHDs, with estimates suggesting that around 50,000 children are born with these defects every year [1]. The exact causes for this high prevalence are not yet fully understood, but factors such as consanguineous marriages, maternal malnutrition, exposure to environmental toxins, and limited access to prenatal care may contribute to the increased occurrence [2].
 
 Challenges Faced:
 Several challenges impede the effective management of CHDs in Pakistan. Limited awareness among the general population, particularly in rural areas, hampers early detection and timely intervention. Late diagnosis often leads to complications and reduced chances of successful treatment. Moreover, the shortage of specialized pediatric cardiac centers and trained healthcare professionals further exacerbates the problem [3].
 
 Inadequate Infrastructure:
 Pakistan faces a scarcity of dedicated pediatric cardiac centers equipped with the necessary technology and facilities to diagnose and treat CHDs effectively. The existing infrastructure is insufficient to cater to the overwhelming demand, resulting in long waiting times and delayed interventions. Investment in establishing more centers with state-of-the-art equipment and skilled medical staff is essential to ensure timely and accessible care for affected children throughout the country.
 Financial Barriers:
 The cost of treating CHDs can be exorbitant, making it unaffordable for many families in Pakistan. Surgical interventions and long-term medical management impose a significant financial burden, further compounded by the lack of health insurance coverage for congenital conditions. Public and private collaborations, along with governmental initiatives, are needed to develop financial assistance programs and insurance schemes that provide necessary support to families affected by CHDs [4].
 
 Improving Awareness and Education:
 Raising awareness about CHDs is crucial in order to promote early diagnosis, timely intervention, and prevention strategies. Public health campaigns, educational programs in schools and colleges, and community outreach initiatives should be implemented to disseminate information about CHDs, their signs and symptoms, and the importance of seeking medical attention. Empowering healthcare professionals with specialized training and knowledge in pediatric cardiology is also essential to enhance the capacity for accurate diagnosis and appropriate management[5].
 
 Collaboration and Research:
 Strengthening collaboration between healthcare institutions, researchers, and policymakers is vital to tackle the challenges associated with CHDs effectively. Increased investment in research on the causes, prevention, and treatment of CHDs in the Pakistani context can lead to significant advancements in understanding the disease and developing targeted interventions. Furthermore, fostering international collaborations can facilitate knowledge exchange and promote best practices in CHD management.
 
 Conclusion:
 Congenital heart defects present a significant healthcare challenge in Pakistan, affecting a large number of children and placing a strain on families and the healthcare system. Addressing the challenges associated with CHDs requires a comprehensive approach that includes improved infrastructure, enhanced awareness, financial support, and collaborative research efforts. By investing in these areas, Pakistan can pave the way for better outcomes and improved quality of life for individuals with CHDs.

Gender differences in congenital heart defects: a narrative review.

Congenital heart defects (CHD) represent the most frequent human birth defects, occurring in almost 1% of all live newborns. Understanding the effects of gender in the prevalence of CHD has a key role in defining personalized prevention, disease identification, prognosis definition and individualized therapeutic strategies. Recently, the attempt to achieve a holistic approach to patients with CHD cannot be separated from accounting for existing gender differences. The main aim of this narrative review is to provide an overview of gender differences in the epidemiology of CHD. A standardized research through three electronic databases (PubMed/Scopus/Embase) was performed using a combination of keywords and Medical Subject Headings (MeSH) terms to include congenital heart diseases, gender difference(s), prevalence. Observational, prospective, population based and retrospective studies reporting gender differences in the prevalence of CHD were included. Conference abstracts were excluded as well as studies not written in English language and non-human studies. Further relevant papers were selected by hand-searching of the references list of selected articles. Search results returned 1,904 papers. Screening articles by title and abstracts resulted in 17 articles for full text review. Of these, 10 were included for analysis and additional 11 articles were included after hand searching review of reference lists. A total of 21 articles were included. Our narrative review confirms that there is a significant gender variation in specific CHD subgroups. In particular, we summarized the evidence that there is a significantly greater risk for males to be born with severe CHD and for females with milder CHD subtypes. The etiology of the different distribution of CHD among genders is still under investigation and a deeper understanding of how gender influences the risk for CHD is warranted. In the future, a gender-based management of CHD should become an established medical approach.

Does universal insurance influence disparities in high-quality hospital use for inpatient pediatric congenital heart defect care within the first year of diagnosis?

BackgroundHealthcare disparities are an issue in the management of Congenital Heart Defects (CHD) in children. Although universal insurance may mitigate racial or socioeconomic status (SES) disparities in CHD care, prior studies have not examined these effects in the use of High-Quality Hospitals (HQH) for inpatient pediatric CHD care in the Military Healthcare System (MHS). To assess for racial and SES disparities in inpatient pediatric CHD care that may persist despite universal insurance coverage, we performed a cross-sectional study of the HQH use for children treated for CHD in the TRICARE system, a universal healthcare system for the U.S. Department of Defense. In the present work we evaluated for the presence of disparities, like those seen in the civilian U.S. healthcare system, among military ranks (SES surrogate) and races and ethnicities in HQH use for pediatric inpatient admissions for CHD care within a universal healthcare system (MHS).MethodsWe conducted a cross-sectional study using claims data from the U.S. MHS Data Repository from 2016 to 2020. We identified 11,748 beneficiaries aged 0 to 17 years who had an inpatient admission for CHD care from 2016 to 2020. The outcome variable was a dichotomous indicator for HQH utilization. In the sample, 42 hospitals were designated as HQH. Of the population, 82.9% did not use an HQH at any point for CHD care and 17.1% used an HQH at some point for CHD care. The primary predictor variables were race and sponsor rank. Military rank has been used as an indicator of SES status. Patient demographic information at the time of index admission post initial CHD diagnosis (age, gender, sponsor marital status, insurance type, sponsor service branch, proximity to HQH based on patient zip code centroid, and provider region) and clinical information (complexity of CHD, common comorbid conditions, genetic syndromes, and prematurity) were used as covariates in multivariable logistic regression analysis.ResultsAfter controlling for demographic and clinical factors including age, gender, sponsor marital status, insurance type, sponsor service branch, proximity to HQH based on patient zip code centroid, provider region, complexity of CHD, common comorbid conditions, genetic syndromes, and prematurity, we did not find disparities in HQH use for inpatient pediatric CHD care based upon military rank. After controlling for demographic and clinical factors, lower SES (Other rank) was less likely to use an HQH for inpatient pediatric CHD care; OR of 0.47 (95% CI of 0.31 to 0.73).ConclusionsWe found that for inpatient pediatric CHD care in the universally insured TRICARE system, historically reported racial disparities in care were mitigated, suggesting that this population benefitted from expanded access to care. Despite universal coverage, SES disparities persisted in the civilian care setting, suggesting that universal insurance alone cannot sufficiently address differences in SES disparities in CHD care. Future studies are needed to address the pervasiveness of SES disparities and potential interventions to mitigate these disparities such as a more comprehensive patient travel program.

Advances in the Diagnosis and Management of Congenital Heart Disease in Children

The last five decades have witnessed an inordinate number of advances in the diagnosis and management of congenital heart defects (CHDs), as reviewed elsewhere [...].

A Hospital-Based Study on Congenital Heart Defects - Haidian District, Beijing Municipality, China, 2013-2022.

Congenital heart defects (CHDs) represent the most prevalent birth defects in China, exhibiting significant mortality and morbidity rates. Recent years have witnessed a steady increase in the occurrence of CHDs, highlighting a crucial need for rigorous research focus. The cumulative birth prevalence of CHDs in Haidian District from 2013 to 2022 was 80.77 per 10,000 births, reflective of an upward trend primarily influenced by the diagnosis of minor, non-critical congenital defects (non-CCHDs). This increase can be attributed to advancements in diagnostic methodologies. Despite the progress in detection, the survival rate for CHDs did not correspondingly improve. Policies need to be formulated to promote the graded management of CHDs. There should be timely updates to the diagnostic criteria to align with advancements in diagnostic techniques. Moreover, in instances where therapeutic abortion is not required, the provision of appropriate medical consultation post-diagnosis should be enhanced.

Hybrid Strategy in the Management of Congenital Heart Defects. Initial Results in a Multicentric Experience

Background: The hybrid approach implies the close collaboration between surgical and interventional cardiology teams forthe treatment of complex congenital heart diseases to reduce the number of interventions by using less invasive techniques,avoid the limitations due to the size of vascular accesses and the use of cardiopulmonary bypass.Objectives: The aim of this study is to evaluate the indications, techniques, initial results and short-term follow-up of thehybrid approach.Methods: We conducted a retrospective analysis of patients treated with hybrid approach between March 2014 and September2020. Fourteen procedures were performed in 13 patients. Mean age was 16.8 years (1 day-13 years); 50% were neonates, 57%were male and mean weight was 9 kg (1.9-70 kg). The hybrid procedures performed included stenting in coarctation of theaorta (4 patients), ductal stenting (3 patients), stenting of pulmonary artery branches (1 patient), neonatal aortic valvuloplasty(4 patients) and perventricular closure of muscular ventricular septal defect (2 patients). The access used was dissection ofthe carotid artery in 8 procedures and sternotomy in the remaining 6.Results: All the procedures were successfully completed, except for two patients: one died due to ventricular fibrillation afterthe procedure, and another in the immediate postoperative period due to severe coagulation abnormality. Mean follow-up ofthe remaining 12 patients was 19 months with favorable outcome.Conclusions: The initial results with the use of a hybrid strategy were satisfactory in terms of survival and improvement of the hemodynamicparameters. The selection of cases, teamwork and appropriate follow-up are key factors to achieve satisfactory results.Key words: Cardiac Surgical Procedures / methods - Heart Defects, Congenital / surgery1 Hospital Privado Universitario de Cordoba.2 Hospital de Ninos de la Santisima Trinidad de Cordoba.3 Clinica Privada del Sol de Cordoba.4 Centro Medico Especializado Diagnus de Cordoba.5 Instituto Universitario de Ciencias Biomedicas de Cordoba.Rev Argent Cardiol 2021;89:128-133. http://dx.doi.org/10.7775/rac.es.v89.i2.19990Recibido: 09/12/2020 - Aceptado: 04/02/2021Direccion para separatas: Dr. Alejandro Peirone - Hospital Privado Universitario de Cordoba - Naciones Unidas 346 (5016) Cordoba, Argentina - Email:alepeirone@yahoo.comEste trabajo obtuvo el Premio Kreutzer 2020 al mejor trabajo en cardiologia pediatricaESTRATEGIA HIBRIDA EN CARDIOPATIAS CONGENITAS / Luciana Daghero y cols. 129AbreviaturasCCC Cardiopatias congenitas complejasCEC Circulacion extracorporeaCoAo Coartacion de aortaReCoAo Recoartacion de aortaSCIH Sindrome de corazon izquierdo hipoplasicoCIV Comunicacion interventricularDAP Ductus arterioso permeableINTRODUCCIONDurante la ultima decada, hemos evidenciado unamejoria significativa en los resultados de cirugia porcardiopatias congenitas complejas (CCC) y tambienla expansion de las tecnicas de hemodinamia intervencionistapara el mismo fin. En el abordaje hibridose muestra la colaboracion estrecha de los equiposquirurgicos y de hemodinamia, donde cada uno utilizalas mejores tecnicas de su campo con el objetivode disminuir el numero de intervenciones a traves detecnicas menos invasivas, de evitar las limitacionesdadas por el tamano pequeno de los accesos vascularesen neonatos y lactantes y de reducir el tiempo decirculacion extracorporea (CEC) y parada circulatoria.El abordaje hibrido tambien permite la planificacionen tiempo y forma de los casos mas desafiantes quese beneficiarian con un procedimiento combinado ybrinda opciones de tratamiento que se adaptan a lasnecesidades individuales. (1-4)El objetivo de nuestro trabajo fue evaluar lasindicaciones, las tecnicas, los resultados inicialesy el seguimiento a corto plazo del abordaje hibridoen diferentes centros dedicados al tratamiento depacientes con CCC.MATERIAL Y METODOSSe efectuo un estudio multicentrico descriptivo, observacional.Se incluyeron retrospectivamente los pacientes que fueronabordados de manera hibrida desde marzo de 2014 hastamayo de 2020 en diferentes instituciones medicas de la ciudadde Cordoba. Todos los procedimientos fueron realizados porel mismo equipo medico. La indicacion de abordaje hibrido encada paciente fue acordada por los equipos de cardiologia, decirugia cardiovascular y de hemodinamia de cada centro. Seincluyeron

Current Advances in Transcatheter Intervention for Children Born with Congenital Heart Defects: A Review of Literature

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.

Abstract 16811: In-Utero Coxsackievirus Type B Infection is Associated With Congenital Pulmonary Atresia

Introduction: Maternal exposure to various pathogens during pregnancy has been well established as a cause of congenital heart defects (CHD). Suggestive, although inconclusive, data exists of an association between Coxsackievirus B (CVB) infection during pregnancy and CHD. Therefore, this study was undertaken to examine association between perinatal infection with CVB and CHD. Hypothesis: CVB infection during pregnancy may play a role in the pathogenesis of CHD. Methods: In a prospective study of 122 pregnant women with pregnancies affected with CHD, circulating CVB IgG and IgM antibodies in the maternal serum were quantified. To determine specific CVB serotypes involved, Neutralizing antibodies (NA) were measured against three CVB serotypes: CVB1-Chi07, CVB3, Nancy, and CVB4, J.V.B. Results: A significant number of the women were positive for CVB antibodies; 31.1% for IgG and 6.6% for IgM. Elevated levels of IgG were seen in 50% of women carrying babies with Pulmonary Atresia (PA) (p=0.04). In addition, 55.6% (p=0.100) of moms carrying babies with Hypoplastic Left Heart Syndrome (HLHS), aortic atresia/mitral stenosis (AA/MS) variant and 47.1% (p=0.127) of HLHS AA/mitral atresia (MA) had positive IgG levels. Among babies of women with positive IgM titers, 75% (p=0.001) had isolated Ventricular Septal Defect (VSD), comprising 26.1% (6/23) of all babies with isolated VSD in the cohort.We also show a possible association between CVB4 and CHD in the cohort. All mothers with positive IgM titers whose babies were born with a VSD had elevated CVB4 NA (p=0.001). Among women with elevated IgG having babies with PA, 40.0% (p=0.061) had elevated CVB1 NA, 70.0% (p=0.014) had elevated CVB3 NA, and 40.0% (p=0.876) had elevated CVB4 NA. Conclusion: We present data from a clinical study suggesting that CVB infection during pregnancy may contribute to the burden of CHD in affected babies. Our data demonstrates not only an association of CVB with CHD in pregnant women but this is the first report showing significant association between in-utero CVB infection and PA. Our study has broad implications for the future understanding and potential management of CHD as well as introduces a new avenue of research for cardiac defects.

Coarctatio aortae: management from infancy to adulthood.

The surgical management of congenital heart defects is changing continuously due to technical development. Aortic coarctation is one of the most frequent congenital heart diseases often with serious symptoms. The authors review the different surgical techniques (end-to-end anastomosis, pathplasty, interposition) and present the up-to-date procedures from infancy to adulthood. We assess the results, the benefits and disadvantages of the different procedures based on our and international experiences. The greatest surgical challenges are the management of the serious hypoplastic aortic arch in infancy and later evolving restenosis and complications (aneurysm, dissection). Nowadays, the management of aortic coarctation is very difficult because the surgical procedures are different in infancy, childhood and adult age. In the latter two cases, it is necessary to apply catheter interventions, too, the correct timing of which also present great challenges nowadays. Orv Hetil. 2020; 161(21): 861-866.

Management of Congenital Heart Disease: State of the Art; Part I-ACYANOTIC Heart Defects.

Since the description of surgery for patent ductus arteriosus in late 1930s, an innumerable number of advances have taken place in the management of congenital heart defects (CHDs). In this review the current status of treatment of seven of the most common acyanotic CHDs was reviewed. The discussion included indications for, and timing of, intervention and methods of intervention. The indications are, by and large, determined by the severity of the lesion. Pressure gradients in obstructive lesions and the magnitude of the shunt in left-to-right shunt lesions are used to assess the severity of the lesion. The timing of intervention is different for each lesion and largely dependent upon when the criteria for indications for intervention were met. Appropriate medical management is necessary in most patients. Trans-catheter methods are preferable in some defects while surgery is a better option in some other defects. The currently available medical, trans-catheter, and surgical methods to treat acyanotic CHD are feasible, safe, and effective.

Phospholipids and L-Carnitine Screening in Children with Congenital Heart Diseases Undergoing Surgical Correction

Objectives: Congenital heart defect (CHD) represents almost 33% of all major congenital deformities, representing a worldwide health problem. The aim of the study is to identify the value of lecithin, cephalin, sphingomyelin & other phospholipids screening in the pathogenesis and prognosis of CHDs and consequently improve their management. Methods: A total of 89 child with CHDs were included [35 atrial septal defect (ASD), 27 ventricular septal defect (VSD) and 27 patent ductus arteriosus (PDA)] and 34 child as a control group. Biochemical analysis of the plasma levels of total and different component of phospholipids for both CHD and control group were done by colorimetry and two-dimensional thin layer chromatography. Assay of plasma L-carnitine level was done by ELISA for both patients and control group. Results:The overall results of the present study revealed a significant reduction in the total phospholipids among CHD patients in comparison to the control group; also, a significant change in the phospholipid profile. A significant lower plasma L-carnitine levels in the CHDs group when compared with the control group (p < 0. 001). Conclusions: Disturbed total and differential types of phospholipids &plasma L-carnitine levels occurs in children with CHDs. Moreover, cell-specific targeting of L-carnitine and phospholipid biosynthetic pathways might serve as a possible strategy for helping favorable outcome in management of CHDs.

Management of children with congenital heart defect: state of the art and future prospects.

The treatment of children with congenital heart defects has evolved in the last 60 years from conservative care to a highly specialized management where advances in imaging, surgical, interventional and support techniques meet together to ensure satisfactory development and good quality of life to the child and to the upcoming grown up. Management of congenital heart defects best begins before birth with the aim, whenever possible, to maintain or establish biventricular physiology or, if this is excluded, to optimize the conditions for univentricular physiology. Current research in the field of genetics, device bioengineering and miniaturization, stem cell therapy, and fusion imaging technology is expected to help to improve further patient outcome. In this review, current management strategies and future prospects are discussed.

Change in our approach in the surgical management of congenital heart defects in patients with Down syndrome, 1974-2016

Congenital heart defects are frequently present in patients with Down syndrome. The authors analyzed the impact of changing approach in surgical management of congenital heart defect on the life expectancy of patients with Down syndrome. Between 1974 and 1997 the data of 359 children with Down syndrome were collected. Among them 255 patients had no surgery and the mortality in this group was 25.9%, whereas the mortality in the group of 104 patients who underwent palliative surgery was 8.6%. Surgical management of congenital heart defects provides the same life expectancy for these patients as compared to Down patients without cardiac defects. Primary reconstruction is the preferable surgical procedure in infancy that provides good results. Nowadays the number of the operated grown-up congenital heart disease patients with Down syndrome is increasing. During the last three years 82 grown-up congenital heart disease patients, including 4 patients with Down syndrome (aged between 24 and 60 years) were reconstructed successfully. Due to the successful surgery in infancy the population of grown-up congenital heart disease patients with Down syndrome is increasing. The cardiac surgeons are ready to do everything for the optimal life expectancy of these patients. However, management of special problems (indication and necessity of reoperation, optimal age) in patients with Down syndrome poses a great challenge for cardiologists and cardiac surgeons. Orv. Hetil., 2016, 157(40), 1601-1603.

Perspectives in the management of congenital heart defects in adult patients

Due to improving results in congenital heart surgery, the number of adult patients with congenital heart defect is increasing. The question is: what kind of problems can be managed in this patient-group? The authors review the different problems of management of congenital heart defects in adults based on national and international literature data. Simple defects recognised in adults, postoperative residual problems, changing of small grafts and valves, correction of primary or operated coarctation aortae can be usually managed without problems. A very close follow-up is necessary to establish the correct period for heart transplantation in patients with transposition of great arteries with Senning/Mustard operation, and univentricular heart corrected with "Fontan-circulation" type surgical procedure. The authors conclude that although the number of patients increases, only a few congenital heart diseases may cause problems. It seems important (1) to monitor asymptomatic patient who underwent operation (Fallot-IV, Ross procedure, etc.), (2) follow up regularly patients who underwent Senning/Mustard procedure (magnetic resonance imaging, echocardiography, brain natriuretic peptide measurement), (3) define the proper period of preparation for heart transplantation of patients with a univentricular heart, with special attention to the possibility of multiorgan (lung, liver, etc.) failure. Due to the improvement of foetal diagnosis of congenital heart defects, the number of patients with complex congenital heart defects is decreasing. The standard management of these patients could be primary heart transplantation in infancy.

Bicarotid Trunk: How Much Is “Not Uncommon”?

Bicarotid trunk is the most common variation of aortic arch branching patterns. Bicarotid trunk can be a decisive factor in the surgical management of congenital heart defects. Our objective was to determine the prevalence of the bicarotid trunk among pediatric patients with congenital heart defects and to identify whether there is an association between bicarotid trunk and aortic coarctation. From a total of 4,371 pediatric cardiac catheterizations between the years 1979 and 2010, a group of 2,033 patients were selected. Prevalence of the aortic coarctation in patients with bicarotid trunk and with a normal branching pattern was determined by evaluating the catheterization reports. In addition, associated congenital defects, vascular anomalies, and genetic syndromes were also assessed. Of 2,033 patients in our database, 84.8% of patients had a normal branching pattern of the aortic arch and 15.2% had a bicarotid trunk. The most frequent congenital heart defects in patients with a bicarotid trunk were ventricular septal defects, valvular pulmonary stenosis, and atrial septal defect. The most common associated vascular anomaly was the aberrant right subclavian artery. Most frequent genetic syndromes were trisomy 21, Williams syndrome, and CHARGE syndrome. The prevalence of bicarotid trunk of 17.6% among patients with aortic coarctation and 15.2% among the entire population studied made it not at all a rare phenomenon. Because bicarotid trunk can be a risk factor for surgery, the anatomy of the aortic arch needs to be clearly depicted and described. If ultrasonography examination cannot exclude bicarotid trunk, enhanced magnetic resonance imaging or aortic arch angiography may be necessary.