Congenital Heart Disease Patients Research Articles

Experiences and Attitudes Toward Telemedicine in an Adult Congenital Heart Disease Clinic: Lessons Learned from the COVID-19 Pandemic.

The coronavirus disease 2019 (COVID-19) pandemic has driven a broader adoption of telemedicine (TM). We aim to describe adult congenital heart disease (ACHD) patient experiences with TM and explore factors associated with positive attitude toward future TM visits. This is a cross-sectional, single-center study in an outpatient ACHD clinic from February to June, 2022. Between-group comparisons were made using Wilcoxon-Rank Sum, Chi-Square, or Fisher-Exact tests. Univariate logistic regression was performed for variables that could correlate with a "positive" attitude toward future TM visits. Significance was determined using an alpha level of 0.05. Of 262 patients (median age 33years, 55% female, 81% White), 115 (44%) had a prior TM visit and 110 (96%) reported a positive experience. There were 64 (24%) with a positive attitude toward future TM visits. Concerns include lack of cardiac testing and limited quality of visit. Patients with visits every 3-6months (Odds Ratio [OR] 2.44; p < 0.01) and prior TM visit (OR 1.89; p = 0.03) had higher odds of a positive attitude toward future TM, whereas males had lower odds (OR 0.53; p = 0.04). Age, annual income, disease complexity, distance from clinic, and employment status were not associated. There is high rate of satisfaction with TM among ACHD patients but only one-quarter indicated interest in using TM in the future. Factors associated with interest in TM visits are identified, and together with patient feedback, can be used to understand potential role of TM for the ACHD population in the post-pandemic era.

Predictive value of NT-proBNP and hs-TnT for outcomes after pediatric congenital cardiac surgery.

The available evidence regarding the predictive value of troponins and natriuretic peptides for early postoperative outcomes in pediatrics is limited, controversial, and based on small sample sizes. We aimed to investigate the association of N-terminal pro B-type natriuretic peptide (NT-proBNP) and high-sensitivity troponin T (hs-TnT) with the in-hospital adverse outcomes after congenital cardiac surgeries. A secondary analysis based on a prospective study of pediatric congenital heart disease (CHD) patients was conducted to investigate the association of NT-proBNP and hs-TnT tested within 6 hours postoperatively with in-hospital adverse events. A multivariate logistic regression analysis with a minimum P value approach was used to identify the optimal thresholds of NT-proBNP and hs-TnT for risk stratification. NT-proBNP and hs-TnT are positively correlated with cardiopulmonary bypass time, mechanical ventilation duration, and pediatric intensive care unit stay. The predictive performance of NT-proBNP is excellent for adverse events in both patients younger than 1 year [area under the curve (AUC): 0.771, 0.693-0.850] and those older than 1 year (AUC: 0.839, 0.757-0.922). However, hs-TnT exhibited a satisfactory predictive value solely in patients aged over 1 year. (AUC: 0.784, 0.717-0.852). NT-proBNP levels of 2000 to 10000ng/L [Odds Ratio (OR): 3.79, 1.47-9.76) and exceeding 10000ng/L (OR: 12.21, 3.66-40.80) were associated with a higher risk of postoperative adverse events in patients younger than 1 year. Patients older than 1 year, with NT-proBNP higher than 500ng/L (OR: 15.09, 6.05-37.66) or hs-TnT greater than 1200ng/L (OR: 5.50, 1.47-20.59), had a higher incidence of postoperative adverse events. NT-proBNP and hs-TnT tested within postoperative 6 hours demonstrated significant predictive value for postoperative adverse events in CHD patients older than 1 year. However, among CHD patients younger than 1 year, only NT-proBNP exhibited commendable predictive performance for postoperative adverse events.

Association between congenital heart disease and cancer: A meta-analysis of 30 million patients.

10568 Background: Birth defects have been associated with increased cancer risk; however, the association between congenital heart disease (CHD) and cancer risk has not been well established with limited and conflicting literature till date. Children afflicted with CHD possess multiple risk factors for oncogenesis, such as chromosomal and genetic abnormalities, ionising radiation exposure during cardiac imaging and interventions, chronic hypoxia and debility. We sought to evaluate the relationship between CHD and cancer risk and its various subtypes. Methods: We performed a systematic literature search on PubMed, EMBASE, and Scopus for relevant articles from inception until February 4th, 2023. Odds ratios (OR) and 95% confidence intervals (CI) were pooled using a random-effects model, and a p-value of &lt;0.05 was considered statistically significant. Results: A total of 5 studies with 30,437,431 patients (CHD group=213,229, and non-CHD group = 30,224,202) were involved in the analysis. Mean age of patients with CHD and non CHD was 48.4 and 51.3 years. The pooled analysis revealed that patients with CHD had a higher risk of skin cancer (OR, 1.16(95%CI: 1.10-1.24), p&lt;0.00001), and thyroid cancer (OR, 1.47(95%CI: 1.20-1.80), p&lt;0.001) compared with non-CHD patients. However, leukemia (OR, 0.74(95%CI: 0.22-2.48), p=0.62), gastrointestinal cancer (OR, 1.50(95%CI: 0.79-2.87), p=0.22), central nervous systems tumor (OR, 1.18(95%CI: 0.74-1.88), p=0.48), respiratory system cancer (OR, 0.94(95%CI: 0.67-1.30), p=0.69), breast cancer (OR, 95%CI: 0.96-1.48), p=0.87, genitourinary system cancer (OR, 1.06(95%CI: 0.73-1.54), p=0.76), and musculoskeletal cancer (OR, 1.40(95%CI: 0.92-2.41), p=0.12) was comparable between CHD and non-CHD groups of patients. Conclusions: Our findings indicate that CHD patients are at higher risk of thyroid and skin cancer compared with non-CHD patients; however, no such association with other cancers was observed. The implications of these results extend to the delineation of subsequent research, and the results underscore the necessity for further exploration into the underlying pathophysiological mechanisms. Potential implications include the establishment of enhanced surveillance and screening protocols to protect this vulnerable patient group. [Table: see text]

Safety and feasibility of left bundle branch pacing for pediatric and congenital heart disease patients

Abstract Background Conduction system pacing (CSP) has evolved and validated in adults. Due to technical challenges, pediatric and congenital heart disease (CHD) patients were excluded from original trials in this field. We report the safety and feasibility results of our initial experience with pediatric and CHD patients undergoing LBBAP (Left bundle branch area pacing). Purpose To analyze the indications, intraoperative outcomes, electrocardiographic and clinical data from the initial follow-up of pediatric and CHD patients who underwent LBBAP. Methods Indications, intraoperative technical issues, electronic parameters of the implant and early complications of consecutive pediatric and CAD patients submitted to stimulation of the conduction system were evaluated. Results This study was performed between February 2022 and November 2023 and recruited 11 consecutive patients with complete AV block (age: 15-43 years; 7 women) who underwent LBBAP. Four patients had congenital heart disease repaired surgically and two patients with congenitally corrected transposition of the great arteries. Upgrading from VVIR to LBBAP underwent in four patients. Right ventricle (RV) leads were extracted in three patients before CSP. DDD pacemakers with Lumneless 3830 pacing leads were implanted in all patients. The pre-implant QRS duration was 146 (104- 200) ms and 120 (110-130) ms after the procedure. The mean left ventricle activation time was 72 (50-90) ms. The R-wave amplitude was 10.00 (6-29) mV, with a stimulation threshold of 0.8 (0.4-1) V x 0.4 ms and impedance of 676 (534-780) ohms. Transition from non-selective to either myocardial or selective capture and fixation beats were respectively demonstrated in five and three patients. The procedure duration was 125 (70-130) min, and the fluoroscopy time was 15.2 (4-23.6) min. LBBAP substantially shortened the QRS duration and improved LV dyssynchrony echocardiographic parameters in four patients with prior epicardial or endocardial pacing. The LBBAP was successful in all patients with no early complications occured. At mean three months follow-up, QRS duration showed no significant changes compared with baseline. Conclusion Our initial experience on cardiac stimulation of the His-Purkinje conduction system through the stimulation of the left bundle branch is a safe and feasible technique in pediatric and CHD patients. The widespread use of this pacing technique is very useful and cost-effective to prevent heart failure in this vulnerable population.

Mechanical circulatory support in patients with congenital heart disease: a european registry for patients with mechanical circulatory support (EUROMACS) study.

This study aims to explore characteristics and clinical outcomes of patients with congenital heart disease (CHD) in the European Registry for Patients with Mechanical Circulatory Support (EUROMACS). This is a retrospective study of EUROMACS participants receiving MCS as bridge-to-transplant, possible bridge-to-transplant, or rescue therapy/bridge-to-recovery from 2011 to 2023 (n = 5,340). Adult and paediatric cohorts were analysed separately. The primary outcome was mortality on MCS; secondary outcomes included recovery, transplant and complications including bleeding, cerebrovascular events, and sepsis. Among adult patients, mortality at 1-year was 33.3% among the CHD cohort versus 22.1% in the non-CHD cohort. Adult CHD patients had higher hazards of mortality within the first year after MCS implantation (HR 1.98 95% CI 1.35-2.91, p < 0.001) and bleeding events (sdHR 2.10, 95% CI 1.40-3.16, p < 0.001) compared with non-CHD patients. Both associations remained significant after accounting for multiple mediators. Among paediatric patients, mortality at 1-year was 22.1% in the CHD cohort versus 17.3% in the non-CHD cohort (HR 1.39 95% CI 0.83-2.32, p = 0.213). Adult and paediatric patients with CHD on MCS have higher adverse event risk compared with non-CHD MCS patients, though children did not have greater risk of mortality. As the number of CHD patients requiring advanced heart failure management continues to grow, these findings can enhance informed decision-making.

Paediatrics congenital heart disease is associated with plasma miRNAs.

Congenital heart disease (CHD) are the most common malformations from birth. The severity of the different forms of CHD varies extensively from superficial mild lesions with follow-up for decades without any treatment to complex cyanotic malformations requiring urgent surgical intervention. microRNAs have been found to be crucial in cardiac development, giving rise to possible phenotypes in CHD. We aimed to evaluate the expression of miRNAs in 86 children with CHD and divided into cyanotic and non-cyanotic heart defects and 110 controls. The miRNAs expression of miR-21-5p, miR-155-5p, miR-221-3p, miR-26a-5p, and miR-144-3p were analyzed by RT-qPCR. In addition, the expressions of the miRNAs studied were correlated with the clinical characteristics of both the children and the mothers. The expression levels of miR-21-5-5p, miR-15-5p5, miR-221-3p, and miR-26-5p significantly differed between CHD and control subjects. Moreover, miR-21-5p levels were higher in patients with cyanotic versus non-cyanotic CHD patients. The expression levels of miRNAs of pediatric patients with CHD could participating in the development of cardiac malformations. Additionally, the high expression of miR-21-5p in cyanotic CHD children may be related to greater severity of illness relative to non-cyanotic CHD. This study adds to knowledge of the association between microRNAs and congenital heart disease in children. The expression levels of miR-21-5-5p, miR-15-5p5, miR-221-3p, and miR-26-5p of pediatric patients with CHD could be involved in the development and phenotype present in pediatric patients. miR-21-5p may help to discriminate between cyanotic and non-cyanotic CHD. In the future, the miRNAs studied could have applications as clinical biomarkers.

Prediction of Vasoactive-Inotropic Score on Prolonged Mechanical Ventilation in Adult Congenital Heart Disease Patients After Surgical Treatment Combined with Coronary Artery Bypass Grafting.

This study aimed to investigate the predictive value of the vasoactive-inotropic score (VIS) at different time points for postoperative prolonged mechanical ventilation (PMV) in adult congenital heart disease patients undergoing surgical treatment combined with coronary artery bypass grafting. Patients were divided into two groups that developed PMV or not. The propensity score matching method was applied to reduce the effects of confounding factors between the two groups. VIS at different time points (VIS at the end of surgery, VIS6h, VIS12h, and VIS12h max) after surgery were recorded and calculated. The value of VIS in predicting PMV was analyzed by the receiver operating characteristic (ROC) curve, and multivariate logistic regression was used to analyze independent risk factors. Among 250 patients, 52 were in the PMV group, and 198 were in the non-PMV group. PMV rate was 20.8%. After propensity score matching, 94 patients were matched in pairs. At each time point, the area under the ROC curve predicted by VIS for PMV was > 0.500, among which VIS at the end of surgery was the largest (0.805). The optimal cutoff point for VIS of 6.5 could predict PMV with 78.7% sensitivity and 72.3% specificity. VIS at the end of surgery was an independent risk factor for PMV (odds ratio=1.301, 95% confidence interval 1.091~1.551, P<0.01). VIS at the end of surgery is an independent predictor for PMV in patients with adult congenital heart disease surgical treatment combined with coronary artery bypass grafting.

Statistical process monitoring creates a hemodynamic trajectory map after pediatric cardiac surgery: A case study of the arterial switch operation

AbstractPostoperative critical care management of congenital heart disease patients requires prompt intervention when the patient deviates significantly from clinician‐determined vital sign and hemodynamic goals. Current monitoring systems only allow for static thresholds to be set on individual variables, despite the expectations that these signals change as the patient recovers and that variables interact. To address this incongruency, we have employed statistical process monitoring (SPM) techniques originally developed to monitor batch industrial processes to monitor high‐frequency vital sign and hemodynamic data to establish multivariate trajectory maps for patients with d‐transposition of the great arteries following the arterial switch operation. In addition to providing multivariate trajectory maps, the multivariate control charts produced by the SPM framework allow for assessment of adherence to the desired trajectory at each time point as the data is collected. Control charts based on slow feature analysis were compared with those based on principal component analysis. Alarms generated by the multivariate control charts are discussed in the context of the available clinical documentation.

Children with Congenital Heart Diseases Exhibit Altered Deep Gray Matter Structures.

Children with congenital heart diseases (CHDs) have an increased risk of developing neurologic deficits, even in the absence of apparent brain pathology. The aim of this work was to compare quantitative macro- and microstructural properties of subcortical gray matter structures of pediatric CHD patients with normal appearing brain magnetic resonance imaging to healthy controls. We retrospectively reviewed children with coarctation of the aorta (COA) and hypoplastic left heart syndrome (HLHS) admitted to our hospital. We identified 24pediatric CHD patients (17COA, 7HLHS) with normal-appearing brain MRI. Using an atlas-based approach, the volume and apparent diffusion coefficient (ADC) were determined for the thalamus, caudate, putamen, pallidum, hippocampus, amygdala, nucleus accumbens, cerebral white matter, cerebral cortex, and brainstem. Multivariate statistics were used to compare the extracted values to reference values from 100 typically developing children without any known cardiac or neurological diseases. Multivariate analysis of covariance using the regional ADC and volume values as dependent variables and age and sex as co-variates revealed asignificant difference between pediatric CHD patients and healthy controls (p < 0.001). Post-hoc comparisons demonstrated significantly reduced brain volumes in most subcortical brain regions investigated and elevated ADC values in the thalamus for children with CHD. No significant differences were found comparing children with COA and HLHS. Despite normal appearing brain MRI, children with CHD exhibit wide-spread macro-structural and regional micro-structural differences of subcortical brain structures compared to healthy controls, which could negatively impact neurodevelopment, leading to neurological deficits in childhood and beyond.

A survey on the implementation of cardiovascular surgery for congenital heart disease in China between 2017 and 2021

Objective: To investigate the inplementation of cardiovascular surgery for congenital heart disease (CHD) in China. Methods: A cross-sectional study was carried out. The CHD cardiovascular surgery data collected by the Chinese Society of Extracorporeal Circulation from 2017 to 2021 in 31 provinces (autonomous regions/municipalities) of China were retrospectively reviewed, the implementation of CHD cardiovascular surgery in different provinces, regions, general/specialized hospitals, and different age groups (whether≤18 years old) were summarized, and the correlation analysis between the number of surgeries carried out in each province/region and the gross regional product and the number of the regional population was performed. Results: Between 2017 and 2021, the annual volume of CHD cardiovascular surgery was 77 120, 77 634, 81 161, 62 663 and 71 492, respectively, showing a decreasing trend. Meanwhile, the proportion of CHD patients aged≤18 years who underwent cardiovascular surgery also showed a downward trend, from 79.8% (61 557/77 120) in 2017 to 58.6% (41 871/71 492) in 2021 (P=0.027). The number of surgical cases varied greatly among different provinces, including 4 provinces with≥5 000 cases and 9 provinces with 2 000-5 000 cases. In the five years, the number of CHD cardiovascular surgeries in Central and East China was the largest, accounting for 41.1%-45.5% of the total surgical cases. The proportion of CHD surgery cases≤18 years old was the highest in Southwest China (69.7%-87.4%) and the lowest in Northeast China (28.2%-68.9%). Except for 2021, the number of cases carried out by each region between 2017 and 2020 was correlated with the gross regional product (r=0.929, 0.929, 0.893 and 0.964, respectively, all P<0.05) and the population (r=0.821, 0.893, 0.821 and 0.857, respectively, all P<0.05). Hospitals that performed more than 100 operations (20.5%±1.2% of the total number of hospitals) completed 86.2%±1.2% of the total number of operations in China during the 5-year period. In 2017 and 2021, the number of CHD cardiovascular surgeries preformed in children's/women's and children's specialized hospitals accounted for 24.3% (18 772/77 120) and 23.8% (17 012/71 492) of the total number of cases in China, respectively. Conclusions: From 2017 to 2021, the number of cardiovascular surgery for CHD decreases slightly, but the proportion of surgery for adult CHD patients increases significantly.There is a strong correlation between the number of CHD operations in each region and their economic development status. The scale of CHD cardiovascular surgery performed in children's hospitals/women's and children's hospitals accounts for about a quarter of the total volume in China.

The Role of Cilia and the Complex Genetics of Congenital Heart Disease

Congenital heart disease (CHD) can affect up to 1% of live births, and despite abundant evidence of a genetic etiology, the genetic landscape of CHD is still not well understood. A large-scale mouse chemical mutagenesis screen for mutations causing CHD yielded a preponderance of cilia-related genes, pointing to a central role for cilia in CHD pathogenesis. The genes uncovered by the screen included genes that regulate ciliogenesis and cilia-transduced cell signaling as well as many that mediate endocytic trafficking, a cell process critical for both ciliogenesis and cell signaling. The clinical relevance of these findings is supported by whole-exome sequencing analysis of CHD patients that showed enrichment for pathogenic variants in ciliome genes. Surprisingly, among the ciliome CHD genes recovered were many that encoded direct protein–protein interactors. Assembly of the CHD genes into a protein–protein interaction network yielded a tight interactome that suggested this protein–protein interaction may have functional importance and that its disruption could contribute to the pathogenesis of CHD. In light of these and other findings, we propose that an interactome enriched for ciliome genes may provide the genomic context for the complex genetics of CHD and its often-observed incomplete penetrance and variable expressivity.

Critical care therapies pre- and post-heart transplant and their impact: Analysis from the Pediatric Cardiac Critical Care Consortium

BackgroundFew studies highlighting the critical care management of patients after heart HTx (HTx) have been published to date. This analysis provides a contemporary representation of critical care burden pre- and post-HTx, describes care differences based on pre-transplant diagnosis and outlines the impact of intensive care unit (ICU) therapies on outcomes. MethodsData from PC4 Collaborative Registry was analyzed for pediatric patients undergoing HTx between 08/2014-04/2022. Results1877 HTx in 1857 patients were reported from 42 centers; 56.5% had congenital heart disease (CHD). Patients with CHD were younger, smaller, more likely male, White race, and publicly insured. Their pre-HTx ICU course was characterized by a higher need for catheterization, increased likelihood of inotropic support and mechanical ventilation with lower VAD rates. Their operative courses were significant for longer bypass and cross-clamp times. Postoperatively, CHD patients required more CPR and utilized more ICU therapies such as inotropes, ECMO and renal replacement. Those with CHD had a longer duration of ventilatory support (68.6 vs. 27.3 hours), total hospital stays (37.1 vs. 22.9 days) and higher hospital mortality (7.8% vs. 1.8%); all p<0.0001. Longer cardiopulmonary bypass and longer deep hypothermic circulatory arrest times and delayed sternal closure were independent risk factors for hospital mortality. Lastly, there was no association between total surgical volume for a center and outcomes but there was a significant relationship between center transplant volume and outcomes with higher volume centers demonstrating significantly lower mortality. ConclusionA diagnosis of CHD prior to HTx is associated with a greater use of ICU specific therapies compared non-CHD cohort. Operative factors, particularly in CHD patients, are independently associated with higher hospital mortality as was low transplant volume at the center. The study provides basis for further investigating ICU and operative factors that can be modified to improve transplant outcomes.

Cardiac rehabilitation and adverse events among adult patients with simple congenital heart disease and heart failure

AimsImproved care has resulted in prolonged survival of patients with congenital heart disease (ConHD), increasing age-related cardiovascular comorbidities. Although cardiovascular rehabilitation (CR) represents evidence-based care for heart failure (HF), the clinical impact of CR in patients with ConHD who developed HF during adulthood is unclear. We investigated 12-month mortality and morbidity in patients with simple ConHD diagnosed with HF with CR versus without CR. MethodsA retrospective cohort study was conducted for the time period February 2004 - February 2024. Utilizing TriNetX, a global federated health research network, a real-world dataset of simple ConHD patients was acquired to compare patients with vs. without (controls) prescription for exercise-based CR. Patients were propensity-score matched for age, sex, ethnicity, comorbidities, procedures, and medication. The primary outcome was a composite of all-cause mortality, ischemic stroke, and acute coronary syndrome (major adverse cardiovascular events; MACE) within 12 months. ResultsFollowing propensity score matching, the total cohort consisted of 6,866 simple ConHD patients with HF. CR was associated with significantly lower odds for MACE (odds ratio (OR) 0.61 [95 % confidence interval (CI): 0.54–0.69]) and its individual components all-cause mortality (OR 0.40 [95 % CI 0.33–0.47]) and ischemic stroke (OR 0.75 [95 % CI 0.64–0.88]), but not acute coronary syndrome (OR 1.24 [95 % CI 0.91–1.69]). ConclusionCR was associated with significantly lower 12-month MACE in patients with simple ConHD with concomitant HF compared to usual care.

Interventional cross-sectional study of extra-cardiac anomalies in children with congenital heart diseases in tertiary care hospital in central India

Background Congenital heart diseases (CHDs) in neonates often present complex clinical scenarios, and the association with extra-cardiac anomalies adds a layer of intricacy to their management. This study protocol outlines a comprehensive investigation into the prevalence and clinical outcomes of extra-cardiac anomalies in neonates diagnosed with CHDs. The study addresses gaps in current knowledge regarding this specific patient population, situated in the Neonatology unit of Jawaharlal Nehru Medical College and AVBR Hospital, Sawangi, Wardha, Central India. Methods Utilizing a descriptive, interventional cross-sectional design, the study will enrol neonates meeting inclusion criteria—diagnosis of CHDs with concurrent extra-cardiac anomalies. Rigorous data collection will involve detailed clinical histories, thorough physical examinations, and the compilation of relevant investigations, including diagnostic imaging and laboratory results. The study’s temporal scope spans three years, ensuring a robust representation of the neonatal population. Statistical analysis, employing chi-square tests, Fischer’s tests, and independent t-tests, will explore relationships between demographic and clinical characteristics, contributing to a nuanced understanding of this complex interplay. Expected Results Anticipated outcomes of this study include a precise estimation of the prevalence of extra-cardiac anomalies in neonates with CHDs. Furthermore, insights into this specific patient cohort’s clinical outcomes and management will be gained. The study aims to unravel the intricate relationship between demographic factors, clinical characteristics, and extra-cardiac anomalies in CHD patients through meticulous data analysis. These findings are poised to inform clinical practice, enhance patient care strategies, and set the stage for further research in this critical area of neonatal medicine.

Illuminating the Genetic Basis of Congenital Heart Disease in Patients with Kabuki Syndrome.

Congenital heart defects (CHDs) affect a substantial proportion of patients with Kabuki syndrome. However, the prevalence and type of CHD and the genotype-phenotype correlations in Asian populations are not fully elucidated. This study performed a retrospective analysis of 23 Taiwanese patients with molecularly confirmed Kabuki syndrome. Twenty-two patients presented with pathogenic variants in the KMT2D gene. Comprehensive clinical assessments were performed. A literature review was conducted to summarize the spectrum of CHDs in patients with Kabuki syndrome. In total, 16 (73.9%) of 22 patients with pathogenic KMT2D variants had CHDs. The most common types of CHD were atrial septal defects (37.5%), ventricular septal defects (18.8%), coarctation of the aorta (18.8%), bicuspid aortic valve (12.5%), persistent left superior vena cava (12.5%), mitral valve prolapse (12.5%), mitral regurgitation (12.5%), and patent ductus arteriosus (12.5%). Other cardiac abnormalities were less common. Further, there were no clear genotype-phenotype correlations found. A literature review revealed similar patterns of CHDs, with a predominance of left-sided obstructive lesions and septal defects. In conclusion, the most common types of CHDs in Taiwanese patients with Kabuki syndrome who presented with KMT2D mutations are left-sided obstructive lesions and septal defects.

Clinical Decision Analysis of Genetic Evaluation and Testing in 1013 Intensive Care Unit Infants with Congenital Heart Defects Supports Universal Genetic Testing.

Extracardiac anomalies (ECAs) are strong predictors of genetic disorders in infants with congenital heart disease (CHD), but there are no prior studies assessing performance of ECA status as a screen for genetic diagnoses in CHD patients. This retrospective cohort study assessed this in our comprehensive inpatient CHD genetics service focusing on neonates and infants admitted to the intensive care unit (ICU). The performance and diagnostic utility of using ECA status to screen for genetic disorders was assessed using decision curve analysis, a statistical tool to assess clinical utility, determining the threshold of phenotypic screening by ECA versus a Test-All approach. Over 24% of infants had genetic diagnoses identified (n = 244/1013), and ECA-positive status indicated a 4-fold increased risk of having a genetic disorder. However, ECA status had low-moderate screening performance based on predictive summary index, a compositive measure of positive and negative predictive values. For those with genetic diagnoses, nearly one-third (32%, 78/244) were ECA-negative but had cytogenetic and/or monogenic disorders identified by genetic testing. Thus, if the presence of multiple congenital anomalies is the phenotypic driver to initiate genetic testing, 13.4% (78/580) of infants with isolated CHD with identifiable genetic causes will be missed. Given the prevalence of genetic disorders and limited screening performance of ECA status, this analysis supports genetic testing in all CHD infants in intensive care settings rather than screening based on ECA.

Outcomes after cancer diagnosis in children and adult patients with congenital heart disease in Sweden: a registry-based cohort study

ObjectivePatients with congenital heart disease (CHD) have an increased cancer risk. The aim of this study was to determine cancer-related mortality in CHD patients compared with non-CHD controls, compare ages...

MixEHR-SurG: A joint proportional hazard and guided topic model for inferring mortality-associated topics from electronic health records

Survival models can help medical practitioners to evaluate the prognostic importance of clinical variables to patient outcomes such as mortality or hospital readmission and subsequently design personalized treatment regimes. Electronic Health Records (EHRs) hold the promise for large-scale survival analysis based on systematically recorded clinical features for each patient. However, existing survival models either do not scale to high dimensional and multi-modal EHR data or are difficult to interpret. In this study, we present a supervised topic model called MixEHR-SurG to simultaneously integrate heterogeneous EHR data and model survival hazard. Our contributions are three-folds: (1) integrating EHR topic inference with Cox proportional hazards likelihood; (2) integrating patient-specific topic hyperparameters using the PheCode concepts such that each topic can be identified with exactly one PheCode-associated phenotype; (3) multi-modal survival topic inference. This leads to a highly interpretable survival topic model that can infer PheCode-specific phenotype topics associated with patient mortality. We evaluated MixEHR-SurG using a simulated dataset and two real-world EHR datasets: the Quebec Congenital Heart Disease (CHD) data consisting of 8211 subjects with 75,187 outpatient claim records of 1767 unique ICD codes; the MIMIC-III consisting of 1458 subjects with multi-modal EHR records. Compared to the baselines, MixEHR-SurG achieved a superior dynamic AUROC for mortality prediction, with a mean AUROC score of 0.89 in the simulation dataset and a mean AUROC of 0.645 on the CHD dataset. Qualitatively, MixEHR-SurG associates severe cardiac conditions with high mortality risk among the CHD patients after the first heart failure hospitalization and critical brain injuries with increased mortality among the MIMIC-III patients after their ICU discharge. Together, the integration of the Cox proportional hazards model and EHR topic inference in MixEHR-SurG not only leads to competitive mortality prediction but also meaningful phenotype topics for in-depth survival analysis. The software is available at GitHub: https://github.com/li-lab-mcgill/MixEHR-SurG.

C-Reactive Protein and Long-Term Prognosis in Adult Patients with Congenital Heart Disease.

Background/Objectives: Prognostic biomarkers may provide information about the patient's cardiovascular outcomes. However, there are doubts regarding how high-sensitivity C-reactive protein (hs-CRP) impacts patients with congenital heart disease (CHD). The main objective is to evaluate whether high hs-CRP levels predict a worse prognosis in patients with CHD. Methods: Observational and prospective cohort study. Adult CHD patients and controls were matched for age and sex. Results: In total, 434 CHD patients (cases) and 820 controls were studied. The median age in the CHD patients was 30 (18-62) years and 256 (59%) were male. A total of 51%, 30%, and 19% of patients with CHD had mild, moderate, and great complexity defects, respectively. The body mass index [1.07 (1.01-1.13), p = 0.022)], diabetes mellitus [3.57 (1.07-11.97), p = 0.039], high NT-pro-BNP levels [1.00 (1.00-1.01), p = 0.021], and low serum iron concentrations [0.98 (0.97-0.99), p = 0.001] predicted high hs-CRP levels (≥0.3 mg/dL) in patients with CHD. During a follow-up time of 6.81 (1.17-10.46) years, major cardiovascular events (MACE) occurred in 40 CHD patients, showing the Kaplan-Meier test demonstrated a worse outcome among patients with hs-CRP levels above 0.3 mg/dL (p = 0.012). Also, hs-CRP showed statistical significance in the univariate Cox regression survival analysis. However, after adjusting for other variables, this significance was lost and the remaining predictors of MACE were age [HR 1.03 (1.01-1.06), p = 0.001], great complexity defects [HR 2.46 (1.07-5.69), p = 0.035], and an NT pro-BNP cutoff value for heart failure > 125 pg/mL [HR 7.73 (2.54-23.5), p < 0.001]. Conclusions: Hs-CRP obtained statistical significance in the univariate survival analysis. However, this significance was lost in the multivariate analysis in favor of age, CHD complexity, and heart failure.

Incidence of Atrial Fibrillation After Radiofrequency Catheter Ablation for Atrial Tachycardia in Congenital Heart Disease

BackgroundAtrial tachycardia (AT) and atrial fibrillation (AF) coexist in 30% of congenital heart disease (CHD) patients. Successful atrial tachycardia catheter ablation (ATCA) might prevent AF. Data on new-onset AF after ATCA in CHD is scarce. ObjectivesThis study aimed to evaluate the incidence of new-onset AF after ATCA and to assess clinical characteristics associated with new-onset AF after ATCA in CHD. MethodsCHD patients referred for ATCA to 3 European centers were included. New occurrence of AF was defined as electrocardiographic documentation of AF after any ATCA procedure in patients without history of AF. ResultsIn 277 CHD patients (median age 37 years [Q1, Q3: 23, 49 years], 58% men, 59 [21%] simple, 111 [40%] moderate, and 107 [39%] complex CHD), AF occurred in 25 patients (9%) a median of 8 months (Q1, Q3: 4, 27 months) after ATCA. New-onset AF was persistent in the majority of the patients (17 of 25 [63%]). Patients with new-onset AF were older (44 years [Q1, Q3: 29, 55 years] vs 36 years [Q1, Q3: 23, 49 years]; P = 0.009) and more frequently had simple CHD (13 of 25 [52%] vs 46 of 252 [18%], respectively; P < 0.0001). Acute ATCA success rates were similar in patients with and without AF (52% vs 48%; P = 0.429). Simple CHD was an independent predictor of new-onset AF during follow-up. ConclusionsIn our large cohort of patients with congenital heart disease, new-onset AF after ablation for AT occurred in only 9% of the patients. AF occurred without AT recurrence and was persistent in the majority of patients.