Cyanotic Congenital Heart Defects Research Articles

Infertility treatments and cyanotic congenital heart defects among livebirths in the USA: findings from a contemporary cohort.

Is there an elevated risk of cyanotic congenital heart defects (CCHD) among livebirths following infertility treatments? In this population-based study of single livebirths, infertility treatment (either ART or non-ART) was associated with a higher prevalence of CCHD among livebirths. The use of infertility treatment has been on the rise over the past few decades. However, there are limited studies assessing the risk of major cardiac defects following infertility treatments. A retrospective cohort study of livebirth data from the National Vital Statistics System (NVSS) was conducted, comprising of 9.6 million singleton livebirths among first-time mothers aged 15-49 years from 2016 to 2022. Information on infertility treatment use and CCHD was obtained from the health and medical information section of birth certificates, which was completed by healthcare staff after reviewing medical records. Logistic regression models were used to estimate odds ratios (OR) and 95% CI. Entropy balancing weighting analysis and probabilistic bias analysis were also performed. The proportion of births following infertility treatment increased from 1.9% (27116) to 3.1% (43510) during the study period. Overall, there were 5287 cases of CCHD resulting in a prevalence of 0.6 per 1000 livebirths. The prevalence was 1.2 per 1000 live births among infertility treatment users (ART: 1.1 per 1000 livebirths; non-ART: 1.3 per 1000 livebirths) while that for naturally conceived births was 0.5 per 1000 livebirths. Compared to naturally conceived births, the use of any infertility treatment (OR: 2.06, 95% CI: 1.82-2.33), either ART (OR: 2.02, 95% CI: 1.73-2.36) or other infertility treatments (OR: 2.12, 95% CI: 1.74-2.33), was associated with higher odds of CCHD after adjusting for maternal and paternal age, race and ethnicity, and education, as well as maternal nativity, marital status, source of payment, smoking status, and pre-pregnancy measures of BMI, hypertension and diabetes. This association did not differ by the type of infertility treatment (ART versus other infertility treatments) (OR: 1.04, 95% CI: 0.82-1.33, P = 0.712), and was robust to the presence of exposure and outcome misclassification bias and residual confounding. The findings are only limited to livebirths. We did not have the capacity to examine termination data, but differential termination by mode of conception has not been supported by previous studies designed to consider it. Infertility treatment use was self-reported, leading to the potential for selection bias and misclassification for infertility treatment and CCHD. However, the association persisted when systematic bias as well as exposure and outcome misclassification bias were accounted for in the analyses. Information on the underlying etiology of infertility relating to either maternal, paternal, or both factors, data on specific types of ART and other infertility treatments, as well as information on subtypes of CCHD, were all not available. In light of the increasing trend in the use of infertility treatment in the USA, and elsewhere, the finding of the current study holds significant importance for the clinical and public health of reproductive-aged individuals. The data show that the use of infertility treatment may expose offspring to elevated odds of severe congenital heart defects such as CCHD studied here. These findings cannot be interpreted causally. While our findings can assist in preconception counseling and prenatal care for pregnancies conceived by either ART or other infertility treatments, they also support some current recommendations that pregnancies resulting from infertility treatments undergo fetal echocardiography screening. No funding was sought for the study. The authors declare that they have no conflict of interest. N/A.

Intervention needs assessment in children with heart diseases presenting to Tibebe-Ghion Specialized Teaching Hospital, Bahir Dar, North West Ethiopia – Tip of the iceberg of the intervention gap in Low-and-middle-income Countries (LMICs)

BackgroundPediatric heart disease is becoming a major contributor to childhood mortality. Almost half of congenital heart defects require intervention, either surgical or trans-catheter. Rheumatic heart disease also remains a global health problem in Low-and-middle-income-countries (LMICs). Intervention timing depends on the natural course and hemodynamic significance of the lesion with an emphasis on earlier intervention to prevent the damage of volume or pressure load and hypoxia. Objectivedescribe the current unmet intervention need of children with heart diseases presenting to Bahir Dar University Tibebe-Ghion Specialized Teaching Hospital. MethodsThis is a descriptive cross-sectional study involving three-hundred-seventy-six children (376) who had echocardiography-confirmed cardiac diseases over fifteen months from August 01, 2022, to October 30, 2023. Variables were analysed using IBM SPSS version 27 software. ResultsOf the 376 children with heart diseases, 54% were boys. The mean (SD) age was 53 (58) months, the median (IQR) being 26 (5–96). Congenital heart defects (CHDs) account for 68% of pediatric heart diseases. 77% of CHDs were acyanotic. Isolated Ventricular septal defect (21%) is the most common acyanotic CHD followed by patent ductus arteriosus (13.2%). Tetralogy of Fallot is the most common cyanotic CHD (41%). Rheumatic heart disease is the most common acquired heart disease (76.9%). 89.4% (336) of children were eligible for intervention need assessment. 35.4% (119) of intervention-eligible children had delayed presentation. 79.8% (268) of intervention-eligible children need intervention at the current presentation. 61%(163) of children who need intervention had delayed intervention timing. 242/268 (90.3%) of children with intervention needs were candidates for surgery. Only 0.7% of children had intervention. ConclusionOur study illustrates the unmet intervention need for pediatric heart diseases our health facilities faced to achieve the 2030 Sustained-development-goal (SDG) target.

PATENT DUCTUS ARTERIOSUS STENTING IN NEWBORNS AND INFANTS WITH CYANOTIC CONGENITAL HEART DEFECTS: EXPERIENCE AND OUTCOMES

Background. Among all congenital heart defects (CHD), one-third are cyanotic defects with duct-dependent pulmonary blood flow. Palliative interventions are necessary for children with complex cyanotic CHD, premature infants, and children with complex comorbidities. Ensuring a reliable source of pulmonary blood flow adequate for arterial oxygenation and native pulmonary artery branches growth are the primary goals of staged interventions. The classic approach to providing adequate pulmonary blood flow before total repair is systemic-to-pulmonary artery shunting. Currently, there is a growing trend towards the use of an alternative method - transcatheter patent ductus arteriosus (PDA) stenting. Aim: Demonstrate the experience of PDA stenting, immediate and long-term outcomes in newborns and infants. Materials and Methods. From 2009 to April 2024, PDA stenting was performed in 66 patients at the UCC. Among the all cohort, 49 (74.2%) were newborns (Group I), and 17 (25.7%) were infants (Group II). The average age was: Group I - 7.4±5.9 days (range 1 to 28 days), and Group II - 105.2±54.78 days (range 42 to 280 days). The average weight was: Group I - 3.0±0.49 kg (range 1.9 to 4.4 kg), and Group II - 5.2±1.4 kg (range 2.7 to 9 kg). This study analyzed pre-, intra-, and postoperative parameters including age, weight, presence of concomitant/genetic pathology, saturation level, pulmonary artery branches diameter, Nakata index, PDAs size, origin and type, duration of staying in the intensive care unit, duration of artificial lung ventilation and inotropic support, early and late postoperative complications, 30-day and inter-stage mortality rates in the two patient groups. Results. All cases of transcatheter stent implantation were performed by transfemoral access. The average ICU stay duration for Group I was 13.8±9.52 days (range 2 to 119 days), and for Group II was 6.4±3.64 days (range 2 to 20 days). The duration of artificial lung ventilation in Group I was 185.8±165.28 hours (range 2 to 2066 hours), and in Group II was 67.5±46.15 hours (range 4 to 248 hours). Inotropic support - on average for Group I - 151.6±81.06 hours (range 0 to 720 hours), and for Group II - 82.4±47 hours (range 0 to 211 hours). Saturation increased from an average of 65.7±11.03% to 85.2±5.7% in Group I (p<0.05), and from 66.8±10.9% to 87.4±4.24% in Group II (p<0.05). Early postoperative complications were observed in 34.6% (17/49) of Group I patients and 23.5% (4/17) of Group II patients. The early 30-day mortality rate was 8.1% (4/49) for Group I. The next stage of surgical treatment wasperformed on average after 12.9±10.2 months by 51% (25/49) of Group I patients and by 88% (15/17) of Group II patients, on average after 14.98±12 months post-stenting. The interstage (late) mortality rate was 6.1% (3/49) for Group I and 5.8% (1/17) for Group II. Conclusion. Considering the outcomes after PDA stenting in our cohort of patients, this procedure appears to be an effective operation for providing a reliable source of pulmonary blood flow in various anatomical variants of cyanotic CHD in both newborns and infants.

The efficacy and safety of patent ductus arteriosus stent versus surgical aortopulmonary shunt in the management of babies with duct dependent circulation: a meta-analysis and review of literature

This meta-analysis aims to comprehensively assess the efficacy and safety of both patent ductus arteriosus (PDA) stents and surgical aortopulmonary shunt (APS) as the initial palliative measures in babies relying on ductal-dependent circulation. This review is essential to compare the outcome of relatively newer catheter-based PDA stent procedure with a surgical APS. By synthesizing existing literature, this review aims to provide insights to inform clinical practice and enhance patient care in this challenging clinical scenario. The methodology involved an extensive search of PubMed and Embase databases using specific keywords and terminology related to mortality, procedural outcomes, and postprocedural complications following PDA stent and APS in cyanotic congenital heart defects (CHD) patients. Six retrospective observational studies met the criteria, with 757 patients included. The analysis showed comparable mortality rates between PDA stents and APS. However, PDA stents were associated with decreased risks of mechanical circulatory support, postprocedural complications, and shorter hospital stays, mechanical ventilation, and intensive care unit stays compared to APS. Notably, patients with pulmonary atresia scheduled for biventricular surgery were more prevalent among those receiving PDA stents. In conclusion, while the risk of mortality is similar between PDA stents and APS, PDA stents offer advantages such as shorter hospital stays and reduced complications. Patient characteristics also vary, with a higher prevalence of intact ventricular septum among those receiving PDA stents.

Stages of motor development in children with cyanotic congenital heart defects after surgical treatment

Background. The article deals with the actual problem of pediatric neurology, pediatric cardiology, and pediatric cardiac surgery, in particular, the peculiarities of neurodevelopment in children with congenital heart defects (CHD). The purpose is to conduct a study of stages of stato-motor development (SMD) in patients with cyanotic congenital heart defects after surgical treatment and to determine the influence of pathogenic factors on neurodevelopmental delay. Materials and methods. Thirty-five patients with cyanotic CHD underwent examination and surgical treatment at the Center for Pediatric Cardiology and Cardiac Surgery of the Ministry of Health of Ukraine: 20 children — with transposition of the great vessels (TGV) and 15 children — with tetralogy of Fallot (TOF). The control group consisted of 35 healthy patients whose motor development corresponded to their age. Gestational age, body weight at birth, Apgar score, saturation, and duration of artificial blood circulation during surgical treatment for CHD were considered. Assessment of motor development was carried out with the help of the following scales: Munich Functional Developmental Diagnosis (G.J. Köhler, H.D. Egelkraut) and section 2 of the Hammersmith Infant Neurological Examination. Data were processed using the software Microsoft Excel version 16.0.12527.21236. Results. The gestational age of the studied group of patients with cyanotic CHD was 38 weeks, body weight — 3,500 g, which corresponded to the control group. Patients of the first subgroup with TGV were diagnosed with lower saturation indicators (р = 0.0001), a lower 1-minute Apgar score (p = 0.028) and a longer duration of artificial blood circulation — 146.00 ± 29.03 (р = 0.043) compared to the second subgroup with TOF. SMD delay was diagnosed in 29 % of cases, namely 12 % with TGV and 17 % with TOF. The average period of sitting with delayed SMD was 8.4 ± 2.2 months (p = 0.002), walking — 18.4 ± 6.3 months (p = 0.0001). Subsequently, children with TGV continue to develop without a significant delay compared to the TOF subgroup. Conclusions. 1. Patients with cyanotic CHD are born at 38 weeks of gestation, with sufficient body weight without a significant difference depending on the type of CHD and compared to the control group of healthy children. The predominance of the male gender is typical in cyanotic CHD. However, children with transposition of the great vessels are characterized by a lower 1-minute Apgar score and lower indicators of saturation at birth compared to those with tetralogy of Fallot. 2. Based on the conducted study, a delay of SMD was found in 29 % of patients with cyanotic CHD, namely 17 % with TOF and 12 % with TGV. The average duration of sitting with delay was 8.4 ± 2.2 months and walking was 18.4 ± 6.3 months. 3. Surgical treatment was carried out according to the detected indications, for transposition of the great vessels on the first day and for tetralogy of Fallot at 8 months of life. No pathogenic influence of the duration of artificial blood circulation and aortic clamping during cardiosurgical treatment on SMD in children was found. An increase in the duration of artificial blood circulation was noted during arterial switch operation in children with TGV, but no significant difference was found in children with SMD delay. 4. Timely early surgical treatment of critical CHD — TGV on the first day after birth, a developed route for pregnant women, techniques of performing operations — ensure a better SMD of this subgroup in the future. In patients with TOF, taking into account the long period of hypoxia before the start of surgical correction, neuropsychiatric disorders of varying degrees are more often noted. The development of an individual rehabilitation program is provided for this category of children.

Possibilities of modern methods of cardiac imaging in the diagnosis and preoperative planning of transposition of the great arteries in children: a prospective study

INTRODUCTION: Transposition of the great arteries (TGA) is the classic, most common and severe form of cyanotic congenital heart defects in children, which is characterized by a variety of anatomical and hemodynamic variants, combined with other cardiac anomalies and high infant mortality rates. The surgical treatment and the possibility of performing simultaneous correction of TGA depend on the anatomical and hemodynamic features of the TGA and the presence of combined intra- and extracardiac anomalies, which must be determined using cardiac imaging techniques on the preoperative stage.OBJECTIVE: To evaluate the capabilities of TTE and cardiac CT in the diagnosis and surgical planning of TGA in children.MATERIALS AND METHODS: The study included 29 children with an incoming diagnosis of transposition of the great arteries. The average age of the patients was 31 (14.5; 67) days. All children underwent TTE, 21 — cardiac CT with intravenous contrast enhancement, 6 — catheterization of the cardiac cavities with conventional angiography. Cardiac MRI was not performed due to the severe and unstable general condition of all patients and the significant risks from a longer stay in anesthesia. Capabilities of TTE and cardiac CT in determining combined intra- and extracardiac anomalies were assessed and compared. All data from TTE and cardiac CT were compared with the results of conventional angiography and intraoperative data. The interval between TTE, cardiac CT and angiography or surgery was less than 10 days.RESULTS: The accuracy of TTE and cardiac CT in TGA diagnosis and determining its type was 100% for both methods, however, with regard to determining combined intra- and extracardiac anomalies, the methods play a different role: the accuracy of cardiac CT in determining combined intracardiac anomalies in patients with TGA was 87.7% (AUC 89.3%), for TTE — 97.1% (AUC 97.3%). Comparing the capabilities of the techniques in determining intracardial anomalies, no statistically significant difference was obtained (p=0.092). The diagnostic accuracy of cardiac CT in determining concomitant anomalies of the great vessels and extracardiac pathology was 98% (AUC=98.9%). The sensitivity and specificity of TTE in the comprehensive assessment of concomitant extracardiac anomalies were 58% and 98%, respectively (accuracy 89.1%), AUC 81.1%. Comparing the capabilities of techniques in determining intracardial anomalies, cardiac CT showed to be a more accurate tool in comparison with TTE (p=0.041).DISCUSSION: Results of our study demonstrate the high efficiency of TTE in determining indications for emergency palliative correction of transposition of the great arteries, however, the method has limited diagnostic capabilities in assessing surgical risks when planning radical correction of the defect. Cardiac CT has proven to be a highly accurate tool both in making a diagnosis and in identifying combined intra- and extracardiac anomalies, which play a decisive role in planning open surgical correction of transposition of the great arteries in children.CONCLUSION: For patients with TMA and critical hypoxia, transthoracic echocardiography is the definitive diagnostic tool for planning endovascular repair. When planning open surgery, transthoracic echocardiography should be complemented by cardiac CT with ECG gating to assess the anatomy of the coronary arteries and possible associated extracardiac anomalies.

Continuous Long-Term Assessment of Heart Rate Variability in Adults with Cyanotic Congenital Heart Disease after Surgical Repair.

Background: Heart rate variability (HRV) is an established, non-invasive parameter for the assessment of cardiac autonomic nervous activity and the health status in general cardiology. However, there are few studies on HRV in adults with congenital heart defects (CHDs). The aim of the present study was to evaluate the use of long-term continuous HRV measurement for the assessment of global health status in adults with cyanotic CHD. Methods: This prospective study included 45 adults (40% female, mean age = 35.2 ± 9.2 [range: 19-58] years) after cardiac surgical repair. HRV parameters were calculated from continuous 24 h measurements using a Bittium Faros 180 sensor (Bittium Corp., Oulu, Finland). Results: Postoperative patients with transposition of the great arteries (TGA) (n = 18) achieved significantly higher values of standard deviation of NN intervals (SDNN) (175.4 ± 59.9 ms vs. 133.5 ± 40.6 ms; p = 0.013) compared with patients with other conotruncal anomalies (n = 22). Comparing patients with TGA after a Senning-Brom or Mustard operation (n = 13) with all other heart surgery patients (n = 32), significantly higher HRV parameters were found after atrial switch (root mean square of successive RR interval differences: 53.6 ± 20.7 ms vs. 38.4 ± 18.3 ms; p = 0.019; SDNN: 183.5 ± 58.4 ms vs. 136.3 ± 45.3 ms; p = 0.006). A higher SDNN was also measured after Senning-Brom or Mustard operations than after a Rastelli operations (n = 2) (SDNN: 183.5 ± 58.4 ms vs. 84.5 ± 5.2 ms; p = 0.037). When comparing atrial switch operations (n = 3) with Rastelli operations, the SDNN value was significantly shorter in the Rastelli group (p = 0.004). Conclusions: Our results suggest that continuous HRV monitoring may serve as a marker of cardiac autonomic dysfunction in adults with cyanotic CHD after surgical repair. Impaired cardiac autonomic nervous activity may be associated with an increased risk of adverse reactions in patients with repaired CHD. Therefore, a longitudinal assessment of HRV patterns and trends may provide a deeper insight into dynamic changes in their autonomic regulation and disease progression, lifestyle changes, or treatments. As each person has individual variability in heart rate, HRV may be useful in assessing intra-individual disease progression and may help to improve personalized medicine. Further studies are needed to better understand the underlying mechanisms and to explore the full potential of HRV analysis to optimize medical care for ACHDs.

Two-Dimensional and Doppler trans-thoracic echocardiographic patterns of suspected pediatric heart diseases at Tibebe--Ghion specialized Teaching Hospital and Adinas General Hospital, Bahir Dar, North-west Ethiopia:-An experience from an LMIC.

Transthoracic Echocardiography is the first-line, non-invasive, and accessible imaging modality to evaluate heart disease anatomy, physiology, and hemodynamics. We aim to describe the trans-thoracic echocardiography pattern of pediatric heart diseases and reasons for referral in children referred to Bahir Dar University Tibebe-Ghion Hospital and Adinas General Hospital. A descriptive cross-sectional study of the archived Transthoracic, Two Dimensional, and Doppler Echocardiography assessments of children from birth to fifteen years of age performed between June 2019 to May 2023 was done. Data were collected retrospectively from February 01, 2023 -May 31, 2023. Categorical variables like gender, referral reasons for echocardiography, and patterns of pediatric heart lesions were analyzed in the form of proportions and presented in tables and figures. Discrete variables including age were summarized as means (SD) and medians(IQR). Out of 3,647 Children enrolled; 1,917 (52.6%) were males and 1,730 (47.4%) were females. The median (IQR) age of children enrolled was 24 months (5 to 96). Cardiac murmur (33%) was the most common reason for echocardiography followed by, Respiratory Distress (18%), Syndromic Child (15%), easy fatigability/ Diaphoresis (14.3%), congestive heart failure (14%), and rheumatic fever (13.2%). Congenital heart defect (CHD) accounts for 70% of all heart diseases, followed by rheumatic heart disease (21%). Isolated ventricular septal defect(VSD) was the most common CHD (21%) followed by isolated Patent ductus arteriosus (15%), isolated atrial septal defect (10%), Isolated atrioventricular septal defect (6%) and isolated pulmonary stenosis (5%). Cyanotic CHD accounts for 11.5% of all heart diseases. Tetralogy of Fallot (30%), d-TGA (20%), and double outlet right ventricle (19%) were the most common cyanotic CHDs. In our study, congenital heart lesions are the most common diagnosis and cardiac murmurs are the most common presenting reasons for echocardiography evaluation.

Pictorial rendition of author’s observations on balloon valvuloplasty/angioplasty procedures: Pulmonary stenosis

Balloon valvuloplasty/angioplasty techniques have been available to address valvar and vascular obstructions associated with congenital heart defects (CHDs) since the 1980s. The objective of this paper is to provide a pictorial rendition of the author’s observations over the last four decades on these techniques. In this paper, balloon pulmonary valvuloplasty (BPV) for treating isolated pulmonary stenosis (PS), PS associated with cyanotic CHDs, and bioprosthetic valve in the pulmonary position were reviewed. Balloon dilatation leads to a decrease in the peak systolic pressure gradient through the pulmonary valve during BPV, as well as at intermediate-term and long-term evaluation. Problems, such as the reappearance of obstruction at intermediate-term follow-up and pulmonary insufficiency (PI) at long-term follow-up, have been documented in isolated PS cases but are infrequent. Repeat balloon valvuloplasty for restenosis has been successfully used. The development of infundibular obstruction in PS cases was also reviewed. To decrease the frequency and degree of PI, the author has revised the recommendations for balloon/annulus ratios used for BPV from the previous 1.2 – 1.4 to 1.2 – 1.25. In patients with PS associated with cyanotic CHD, improvement of oxygen saturations at the time of BPV and enhanced anatomy during follow-up were observed. BPV of bioprosthetic valves results in minimal improvement in the pulmonary valve gradient, and stents may be a better alternative to address this problem.

Role of Vascular Endothelial Growth Factor as a Potential Biomarker in Congenital Heart Defects: A Systematic Review.

Several studies have investigated the role of vascular endothelial growth factor (VEGF) variants, serum levels, and correlations with other extrinsic factors in congenital heart defects (CHDs); however, the findings need confirmation. The present systematic review evaluates the association between CHDs and genetic polymorphisms and serum expressions. Relevant literature was searched through electronic databases using keywords and MeSH terms. VEGF activity was comparatively assessed between cyanotic and acyanotic CHDs, and the association between different polymorphisms and heart defects was evaluated. We ultimately evaluated 12 studies regarding the association between VEGF serum patterns and found that serum VEGF levels were upregulated or downregulated in correlation with hypoxia and hemoglobin levels and were significantly associated with cyanotic CHDs compared with acyanotic CHDs. Our results also showed a significant role for different single-nucleotide polymorphisms, including rs699947, rs2010963, and rs3025039. The findings of the current study suggested a significant association between CHDs and VEGF genetic polymorphisms or varied serum levels. Nevertheless, more comprehensive studies may provide conclusive results and valuable insights into the pathogenesis of CHDs and relevant treatment strategies.

Meta-analysis reveals differential gene expression in tetralogy of Fallot versus controls.

Tetralogy of Fallot (TOF) is the most common cyanotic congenital heart defect in the United States. We aimed to identify genetic variations associated with TOF using meta-analysis of publicly available digital samples to spotlight targets for prevention, screening, and treatment strategies. We used the Search Tag Analyze Resource for Gene Expression Omnibus (STARGEO) platform to identify 39 TOF and 19 non-TOF right ventricle tissue samples from microarray data and identified upregulated and downregulated genes. Associated gene expression data were analyzed using ingenuity pathway analysis and restricted to genes with a statistically significant (p < .05) difference and an absolute experimental log ratio >0.1 between disease and control samples. Our analysis identified 220 genes whose expression profiles were significantly altered in TOF vs. non-TOF samples. The most striking differences identified in gene expression included genes FBXO32, PTGES, MYL12a, and NR2F2. Some top associated canonical pathways included adrenergic signaling, estrogen receptor signaling, and the role of NFAT in cardiac hypertrophy. In general, genes involved in adaptive, defensive, and reparative cardiovascular responses showed altered expression in TOF vs. non-TOF samples. We introduced the interpretation of open "big data" using the STARGEO platform to define robust genomic signatures of congenital heart disease pathology of TOF. Overall, our meta-analysis results indicated increased metabolism, inflammation, and altered gene expression in TOF patients. Estrogen receptor signaling and the role of NFAT in cardiac hypertrophy represent unique pathways upregulated in TOF patients and are potential targets for future pharmacologic treatments.

Biomarkers in transposition of the great arteries after arterial switch operation: A pilot trial with deep phenotyping

IntroductionTransposition of the great arteries (TGA) is a cyanotic congenital heart defect for which the arterial switch operation (ASO) is the preferred surgical repair. This study wanted to investigate whether a panel of biomarkers could identify morphologic as well as hemodynamic changes obtained by cardiac magnetic resonance (CMR). MethodsForty-four adult patients were included. Blood samples were collected to measure a broad range of biomarkers (galectin-3, ST2, GDF-15, PINP, ICTP, PIIINP, IGF-1, NT-proBNP, and hs-Tn). CMR was performed at rest and during exercise to assess cardiac function and morphology. Explorative statistics were performed between biomarker levels and CMR findings. ResultsAll patients were asymptomatic. While galectin-3, GDF-15, and NT-proBNP levels were within normal ranges, increased ST2, PINP, PIIINP, and ICTP levels were found in 20.5%, 34.1%, 45.5%, and 27.3% of patients, respectively. Moreover, 3 and 2 patients, respectively, showed elevated IGF-1 and hs-Tn levels. Although the ejection fraction of both ventricles was within normal limits, impaired cardiac reserve was found in 20 and 25% of patients for left and right ventricle, respectively. CMR revealed no evidence of diffuse interstitial fibrosis, while 4 patients showed focal ischemic scarring. However, no significant associations between serum biomarkers and CMR data could be detected. ConclusionThe results suggest that in asymptomatic ASO-repaired TGA patients serum level biomarkers are elevated and that this increase is not associated with morphological changes nor with a decreased cardiac reserve. Further study with larger sample sizes is required to draw conclusions with greater confidence.

Immunodeficiency Disorders in Congenital Heart Diseases (Review)

The study data of the last two decades on primary and secondary immunodeficiency in congenital heart defects (CHD) as a cause of frequent infectious complications before and after cardiac surgery are presented. Based on screenings of various levels, data are provided on the greater severity of immunological disorders in critical and cyanotic CHD in conotruncal defects compared with those in septal defects and stenotic defects. Violations were more often related to T-cell function and immunoglobulin deficiency (especially the IgG and IgG4 subgroups). Various types of primary immunodeficiency were found in 13 genetic syndromes in combination with CHD. The review discusses the possibility of using the technique of quantitative determination of DNA TREC and KREC — by-products of maturation of T- and B-cell receptors, which allows us to judge the defects of the T- and B-cell links of the immune system to predict infectious complications in children with CHD. The data of our own study of 200 infants with CHD (in 5% of cases with syndromic forms of CHD) are presented, where a decrease in TREC was found in 23.5% of cases, including all infants with syndromic forms, more often with cyanotic and conotruncal CHD and in children admitted in critical conditions. In children with reduced TREC values, infectious complications in the postoperative period were observed significantly more often than in children with normal indicators (36 and 3.6%, respectively). The analysis of publications confirmed the importance of TREC and KREC screening for targeted preoperative preparation in order to reduce postoperative complications and reduce the risk of mortality in CHD.

Serum Markers of Brain Injury in Pediatric Patients with Congenital Heart Defects Undergoing Cardiac Surgery: Diagnostic and Prognostic Role.

Introduction: The objectives of this study were to assess the role of neuromarkers like glial fibrillary acidic protein (GFAP), brain-derived neurotrophic factor (BDNF), protein S100 (pS100), and neuron-specific enolase (NSE) as diagnostic markers of acute brain injury and also as prognostic markers for short-term neurodevelopmental impairment. Methods: Pediatric patients with congenital heart defects (CHDs) undergoing elective cardiac surgery were included. Neurodevelopmental functioning was assessed preoperatively and 4-6 months postoperatively using the Denver Developmental Screening Test II. Blood samples were collected preoperatively and postoperatively. During surgery, regional cerebral tissue oxygen saturation was monitored using near-infrared spectroscopy (NIRS). Results: Forty-two patients were enrolled and dichotomized into cyanotic and non-cyanotic groups based on peripheric oxygen saturation. Nineteen patients (65.5%) had abnormal developmental scores in the non-cyanotic group and eleven (84.6%) in the cyanotic group. A good diagnostic model was observed between NIRS values and GFAP in the cyanotic CHD group (AUC = 0.7). A good predicting model was observed with GFAP and developmental scores in the cyanotic CHD group (AUC = 0.667). A correlation was found between NSE and developmental quotient scores (r = 0.09, p = 0.046). Conclusions: From all four neuromarkers studied, only GFAP was demonstrated to be a good diagnostic and prognostic factor in cyanotic CHD patients. NSE had only prognostic value.

Pattern of congenital heart defects among children in Jazan Region, Saudi Arabia: A five-year hospital-based study

ABSTRACT Background: Congenital heart defects (CHDs) are the leading cause of death and morbidity in children under one year around the world. This study explores the prevalence, patterns, and interventions of congenital heart defects in children in the Jazan region, Saudi Arabia. Methods: This was a descriptive cross-sectional study, conducted in the Jazan region, Saudi Arabia. We looked back at all of the CHD patients who went to the two tertiary hospitals in the Jazan region between January 2017 and December 2021 and collected and analyzed their background information and diagnosis. Results: During the study period, 1,275 CHD patients aged under 15 years old were identified. A total of 717 (56.24%) were males, while 558 (43.76%) were females. Acyanotic CHDs were the most common, accounting for 79.21% of all cases, while cyanotic CHDs accounted for only 20.79%. Ventricular septal defect (VSD), atrial septal defect (ASD), and patent ductus arteriosus (PDA) were the most common acyanotic CHDs, accounting for 35.69%, 24.31%, and 8% of total cases, respectively. The most common cyanotic CHDs were Tetralogy of Fallot (7.14%) and Total Anomalies of Pulmonary Venous Connection (TAPVC) (1.57%). The most common Cath intervention was patent ductus arteriosus (PDA). Conclusions: This study’s results are similar to those described in previous studies from around the world, except for the unreported Transposition of the Great Arteries (TGA) cases. This kind of information is very important for setting priorities in the Saudi Arabian health sector in light of the National Transformation Program.

Double Outlet Right Ventricle with Pulmonary Atresia and Antero-Posterior Malposition of Great Arteries: Transthoracic Echocardiographic Evaluation of a rare cyanotic congenital heart disorder

Double outlet right ventricle (DORV) is a heterogeneous group of abnormal ventriculoarterial connections where, by definition, both great arteries (pulmonary artery and aorta) arise primarily from the morphologically right ventricle, This condition affects 1-1.5% of the patients with congenital heart diseases, with a frequency of 1 in each 10,000 live births. We are reporting a case of seven year old deeply cyanotic child with DORV, subaortic VSD with rare anatomic features of antero-posterior malposition of great arteries (GA) and pulmonary vavular atresia, with conspicuous absence of patent ductusarteriosus (PDA) or major aorto-pulmonary collaterals (MAPCAs), despite the presence of atretic pulmonary valve. Keywords: DORV, Pulmonary atresia, TGA, VSD, subaortic VSD, overriding of Aorta, cyanotic congenital heart defects.

Repaired Tetralogy of Fallot Pressure Assessment: Insights from 4D-Flow Pressure Mapping

Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital heart defect (CHD) that alters normal blood flow through the heart and accounts for 10% of all CHD. Pulmonary stenosis and regurgitation are common in adults who have undergone TOF repair (rTOF) and can impact the load on the right ventricle, blood flow pressure, and pulmonary hemodynamics. Pressure mapping, obtained through 4D-flow magnetic resonance imaging (4D-flow MRI), has been applied to identify abnormal heart hemodynamics in CHD. Hence, the aim of this research was to compare pressure drop and relative pressures between patients with repaired TOF (rTOF) and healthy volunteers. An in vitro validation was performed, followed by an in vivo validation. We hypothesized that pressure drop is a more stable pressure mapping method than relative pressures to detect altered hemodynamics. A total of 36 subjects, 18 rTOF patients and 18 controls underwent cardiac MRI scans and 4D-flow MRI. Pressure drops and relative pressures in the MPA were higher in rTOF patients compared to the controls (p &lt; 0.05). Following the in vitro validation, pressure drops proved to be a more stable pressure mapping method than relative pressures, as the flow loses its laminarity and becomes more turbulent. In conclusion, this study demonstrated that flow hemodynamics in rTOF can exhibit altered pressure maps. Pressure mapping can help provide further insight into rTOF patients’ hemodynamics to improve patient care and clinical decisions.

Revisiting the central aortopulmonary shunt procedure.

In this study, we present our experience with the central aortopulmonary shunt technique with interposing a polytetrafluoroethylene graft between main pulmonary artery (end-to-end) and the ascending aorta (side-to-side) in a variety of cyanotic congenital heart defects. Between January 2019 and June 2022, a total of 10 patients (6 males, 4 females; mean age: 4.3±2.8 months; range, 5 days to 10 months) with hypoplastic central pulmonary arteries who underwent central aortopulmonary shunt procedure were retrospectively analyzed. Demographic characteristics, preoperative, operative, and postoperative data of the patients were recorded. The Nakata indices of the patients were also noted before the procedure, as well as before the second stage of palliation or definitive repair. Four (40%) patients were operated as the first-step palliation for univentricular circulation. Six (60%) patients had well-developed ventricles and were palliated to be treated with total correction. The median follow-up after the procedure was 12 (range, 8 to 16) months. The mean systemic arterial saturation level at room air was 89.3±2.9% during follow-up. No mortality was observed in any patient. A central aortopulmonary shunt procedure provides a reliable antegrade blood flow with a relatively non-challenging surgical technique that offers sufficient growth for the hypoplastic and confluent central pulmonary arteries with a very low risk of shunt thrombosis and overflow.

Racial and ethnic disparities in the association of maternal infection during pregnancy and risk of cyanotic congenital heart defects in the United States, 2011–2020

PurposeThe etiology of cyanotic congenital heart defects (CCHD) is not well understood. There are scarce data on racial/ethnic disparities in maternal infection and CCHD. We evaluated the relation of maternal infections during pregnancy and risk of CCHD in the United States, and to assess if this association varies by race/ethnicity. MethodsData were from the National Vital Statistics System comprising 35.3 million singleton livebirths among mothers aged 15–49 years from 2011 to 2020. Logistic regression models were used to estimate odds ratios (OR) and 95% confidence intervals (CI). ResultsAfter adjustment for sociodemographic and maternal health factors, including prepregnancy body mass index, diabetes, hypertension, and smoking during pregnancy, time to prenatal care was initiated and pregnancy complications, any maternal infection, was associated with elevated odds of CCHD (OR: 1.25, 95% CI: 1.15–1.37). The odds of CCHD were mainly evident for sexually transmitted infections, namely chlamydia and hepatitis-C viral infection. The association was limited to non-Hispanic Black (OR: 1.22, 95% CI: 1.03–1.45), Hispanic (OR: 1.61, 95% CI: 1.33–1.95), and Asian (OR: 2.03, 95% CI: 1.42–2.91) mothers. ConclusionsIn this population-based study, maternal infection during pregnancy was associated with a modest risk of CCHD in offspring, which was the highest in racial/ethnic minority mothers.

Neoaortic Bicuspid Valve Replacement in Patient After Arterial Switch Operation to Correct Dextro-Transposition of the Great Arteries

INTRODUCTION Transposition of the great arteries is the second most common cyanotic congenital heart defect after tetralogy of Fallot. The arterial switch procedure (А. Jatene, 1975) is the surgical treatment of choice. Neoaortic root dilatation and valve regurgitation are quite common among the patients who underwent surgery for transposition of the great arteries. However, there are a lot of conflicting data about their direct connection.CLINICAL CASE This article describes surgical repair of neoaortic bicuspid valve regurgitation, by it successful implantation, in an 18-year-old patient after arterial switch operation for transposition of the great arteries in the neonatal period.CONCLUSION Neoaortic valve insufficiency can develop primarily as well as secondary to neoaortic root dilatation, however, the questions about valve repair or aortic root replacement with or without neoaortic valve implantation remains debatable. At this stage, decision making is based only on unsystematic clinical experience, surgeon’s intuition, the basics of anatomy and pathophysiology, as well as close interaction of “pediatric” and “adult” cardiac surgeons.