Congenital Heart Disease Complexity Research Articles

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.

Improved complexity stratification in congenital heart disease; the impact of including procedural data on accuracy and reliability

BackgroundIn order to manage a class of diseases as broad as congenital heart disease (CHD), multiple “manually generated” classification systems defining CHDs as mild, moderate and severe have been developed and used to good effect. As databases have grown, however, such “manual” complexity scoring has become infeasible. Though past attempts have been made to determine CHD complexity algorithmically using a list of diagnoses alone, missing data and lack of procedural information have been significant limitations. MethodsWe built an algorithm that can stratify the complexity of patients with CHD by integrating their diagnoses with a list of their previous procedures. Specific procedures which address a missing diagnosis or imply a certain operative status were used to supplement the diagnosis list. To verify this algorithm, CHD specialists manually checked the classification of 100 children and 100 adults across four hospitals in Australia. ResultsOur algorithm was 99.5% accurate in the manually checked cohort (100% in children and 99% in adults) and was able to automatically classify more than 90% of a cohort of over 24,000 CHD patients, including 92.5% of children (vs 84.4% without procedures, p < 0.0001) and 91.1% of adults (vs 70.4% without procedures; p < 0.0001). ConclusionsCHD complexity scoring is significantly improved by access to procedural history and can be automatically calculated with high accuracy.

Time to childbirth and assisted reproductive treatment in women with congenital heart disease

ObjectiveTo investigate the time to first childbirth and to compare the prevalence of assisted reproductive treatment (ART) in women with congenital heart disease (CHD) compared with women without CHD.MethodsAll women...

Impact of COVID-19 Infections among Unvaccinated Patients with Congenital Heart Disease: Results of a Nationwide Analysis in the First Phase of the Pandemic.

Background: The outcome data and predictors for mortality among patients with congenital heart disease (CHD) affected by COVID-19 are limited. A more detailed understanding may aid in implementing targeted prevention measures in potential future pandemic events. Methods: Based on nationwide administrative health insurance data, all the recorded in-hospital cases of patients with CHD with COVID-19 in 2020 were analyzed. The demographics, treatment details, as well as 30-day mortality rate were assessed. The associations of the patients' characteristics with death were assessed using multivariable logistic regression analysis. Results: Overall, 403 patients with CHD were treated in- hospital for COVID-19 in 2020. Of these, 338 patients presented with virus detection but no pneumonia whilst, 65 patients suffered from associated pneumonia. The cohort of patients with pneumonia was older (p = 0.04) and presented with more cardiovascular comorbidities such as diabetes mellitus (p = 0.08), although this parameter did not reach a statistically significant difference. The 30-day mortality rate was associated with highly complex CHD (odds ratio (OR) 7.81, p = 0.04) and advanced age (OR 2.99 per 10 years, p = 0.03). No child died of COVID-related pneumonia in our dataset. Conclusions: COVID-19 infection with associated pneumonia chiefly affected the older patients with CHD. Age and the complexity of CHD were identified as additional predictors of mortality. These aspects might be helpful to retrospectively audit the recommendations and guide health politics during future pandemic events.

Thymic Atrophy and Immune Dysregulation in Infants with Complex Congenital Heart Disease

Congenital heart disease (CHD) is the most common birth defect, and up to 50% of infants with CHD require cardiovascular surgery early in life. Current clinical practice often involves thymus resection during cardiac surgery, detrimentally affecting T-cell immunity. However, epidemiological data indicate that CHD patients face an elevated risk for infections and immune-mediated diseases, independent of thymectomy. Hence, we examined whether the cardiac defect impacts thymus function in individuals with CHD. We investigated thymocyte development in 58 infants categorized by CHD complexity. To assess the relationship between CHD complexity and thymic function, we analyzed T-cell development, thymic output, and biomarkers linked to cardiac defects, stress, or inflammation. Patients with highly complex CHD exhibit thymic atrophy, resulting in low frequencies of recent thymic emigrants in peripheral blood, even prior to thymectomy. Elevated plasma cortisol levels were detected in all CHD patients, while high NT-proBNP and IL-6 levels were associated with thymic atrophy. Our findings reveal an association between complex CHD and thymic atrophy, resulting in reduced thymic output. Consequently, thymus preservation during cardiovascular surgery could significantly enhance immune function and the long-term health of CHD patients.

Incidence of diabetes mellitus and effect on mortality in adults with congenital heart disease

BackgroundWorldwide, 1–2% of children are born with congenital heart disease (CHD) with 97% reaching adulthood. ObjectivesThis study aims to demonstrate the risk of diabetes in patients with CHD, and the influence of incident diabetes on mortality in CHD patients and controls. MethodsBy combining data from patient registries, the incidence of adult-onset diabetes registered at age 35 or older, and subsequent mortality risk were analysed in two successive birth cohorts (born in 1930–1959 and 1960–1983), by type of CHD lesion and sex, compared with population-based controls matched for sex and year of birth and followed until a maximum of 87 years of age. ResultsOut of 24,699 patients with CHD and 270,961 controls, 8.4% and 5.6%, respectively, were registered with a diagnosis of diabetes at the age of 35 or older, hazard ratio (HR) 1.47 (95% CI 1.40–1.54). The risk of diabetes was higher in the second birth cohort (HR of 1.74, 95% CI 1.54–1.95) and increased with complexity of CHD. After onset of DM, the total mortality among patients with CHD was 475 compared to 411/ 10,000 person-years among controls (HR 1.16, 95% CI 1.07–1.25). ConclusionsIn this nationwide cohort of patients with CHD and controls, the incidence of diabetes was almost 50% higher in patients with CHD, with higher risk in the most recent birth cohort and in those with conotruncal defects, with the combination of CHD and diabetes associated with a significantly increased mortality compared to diabetic controls.

Prenatal Diagnosis of Congenital Heart Disease and Voluntary Termination of Pregnancy: A Population-Based Study in Qingdao, China.

The outcomes of fetuses with isolated congenital heart disease (CHD) diagnosed prenatally have not been investigated in a population-based study in China. This population-based study aimed to evaluate the rate of voluntary termination of pregnancy after the prenatal diagnosis of isolated CHD in Qingdao, China. This was a population-based retrospective study in which data were collected from all pregnant women in Qingdao (eastern China) from August 2018 to July 2020; fetal data, maternal data and data on pregnancy outcomes were extracted from medical records regarding prenatal diagnosis of CHD. The inclusion criteria were as follows: pregnant women or their husbands who had a household registration in Qingdao and who underwent regular prenatal screening in Qingdao. The exclusion criterion was the failure to sign an informed consent form. Counseling for all parents of fetuses with CHD was provided by a multidisciplinary team of experienced pediatric cardiologists, obstetricians, geneticists, etc. According to the type and severity of CHD, the pregnancy termination rate was analyzed. Among the 126,843 pregnant women, 1299 fetuses with a prenatal diagnosis of CHD were included in the study. Among the included fetuses, 1075 were diagnosed with isolated CHD, and the overall pregnancy termination rate was 22.8%. Termination rates varied according to the complexity of CHD (low complexity vs moderate complexity, P=0.000; low complexity vs high complexity, P=0.000; moderate complexity vs high complexity, P=0.000), with rates of 6.0% for low complexity, 54.2% for moderate complexity, and 99.1% for high complexity. The decision to terminate the pregnancy in cases of isolated CHD was unrelated to maternal age (P=0.091) but was related to gestational age (p=0.000). In Qingdao, 99.1% of parents whose fetuses were diagnosed with isolated high-complexity CHD chose to voluntarily terminate the pregnancy. The pregnancy termination rate increased with increasing complexity of prenatally diagnosed CHD.

Frailty phenotype and cognitive functioning in middle-aged and older adults with congenital heart disease: results of an international multicentric study

Abstract Background The life expectancy of patients with congenital heart disease (CHD) has increased rapidly, resulting in a growing and aging population. Recent studies showed that older CHD patients have a higher morbidity, healthcare utilization, and mortality. Furthermore, many will encounter a state of frailty. To maintain longevity and quality of life, understanding the evolving medical and psychosocial challenges of older patients is important to enable the mapping of specific healthcare needs. There are indications that, independent of age and comorbidity, the frailty phenotype can guide risk prediction in chronically ill patients. However, current knowledge on frailty phenotype and cognitive function of older CHD patients is limited. Purpose This study aimed (i) to describe the frailty and cognitive profile of older adults with mild to complex CHD, and (ii) to investigate the relationship with patient-related factors (e.g., age, complexity of CHD and physiological stage). Methods Using a cross-sectional, multicentric design, we included 814 patients aged ≥ 40 years (median age: 52y [45.0-61.0]; 52% women; 13% mild, 70% moderate, 17% complex CHD) from 17 centers in 11 countries. The frailty phenotype was determined using the Fried method, which classifies patients as robust, prefrail and frail based on five criteria: weakness; slow walking speed; unintentional weight loss; exhaustion; and low physical activity. Cognitive function was evaluated using the Montréal Cognitive Assessment (MoCA). Comorbidities were assessed using the Charlson Comorbidity Index (CCI). Results In this sample, 52% of patients were assessed as robust, 42% prefrail, and 6% frail. Based on the MoCA, 39% had cognitive dysfunction. A weak negative correlation was found between frailty and cognitive functioning (rho=-0.210, p&amp;lt;0.001). Multinomial regression showed that prefrail and frail status was associated with older age, female sex, higher physiological class, and comorbidities (Table 1). Logistic regression demonstrated that cognitive dysfunction was related to older age and comorbidities. Conclusion Approximately half of the sample of CHD patients were (pre)frail and almost two out of five experienced cognitive impairment. These age-related problems were not related to the anatomical complexity of the heart condition, indicating that these issues are not limited to severe CHD. Future research is needed to determine the impact of these findings on healthcare use.

Evaluation of a nurse-led multi-component transition program for adolescents with congenital heart disease

ObjectiveTo evaluate the effectiveness of the transition program for adolescents with congenital heart disease (CHD) ‘Transition With a Heart’ (TWAH) on disease-related knowledge, quality of life (QoL), transition experiences, and gaps in follow-up. MethodsA study with pre-posttest and control group (post-test) using consecutive sampling, including adolescents with moderate to severely complex CHD, without intellectual disability, aged≥ 12 y, and parents. After weighting, t-tests were performed. A multivariable regression analysis explored the outcomes’ determinants. ResultsIn the intervention group, 28 adolescents and 25 parents were included, and 53 adolescents and 18 parents as controls. Adolescents’ knowledge significantly increased after completing TWAH (from 59.8% to 75.7%;p < 0.01). Their knowledge was positively correlated with TWAH (β = +13.3;p < 0.01). Adolescents’ transition experiences were also positively related to TWAH (general experience: β = +5.5;p < 0.01; transfer satisfaction: β = +0.8; p < 0.01). Adolescents’ QoL was mainly determined by CHD complexity and not by TWAH. No one showed gaps in follow-up. TWAH was not associated with parents’ transition experiences. ConclusionImplementing TWAH substantially improved adolescents’ disease-related knowledge and transition experiences. Practice implicationsThe results regarding transition experiences need to be confirmed by further research. The TWAH design with the person-tailored educational program, skills training, and the transition coordinator can be used in settings with other chronic diseases.

Mental Health Conditions Among Children and Adolescents With Congenital Heart Disease: A Danish Population-Based Cohort Study.

Despite the known mental health burden among children with congenital heart disease (CHD), the literature is constrained by a lack of comparison cohorts and population-based follow-up data. We examined the incidence of mental health conditions among children with CHD, relative to 3 comparison cohorts. This population-based cohort study identified all children with CHD (<18 years of age; n=16 473) in Denmark from 1996 to 2017, through linkage of individual-level data across national registries. This allowed for complete follow-up of the population. Comparison cohorts included children from the general population (n=162 204), siblings of children with CHD (n=20 079), and children with non-CHD major congenital anomalies (n=47 799). Mental health conditions were identified using inpatient and outpatient hospital discharge codes, prescription data, and data on use of community-based psychology, psychiatry, and psychotherapy services. We computed cumulative incidence by 18 years of age, incidence rates, and adjusted hazard ratios (aHRs) using Cox regression. aHRs accounted for sex, year of CHD diagnosis, parental mental health, and socioeconomic status. All estimates were stratified by age, sex, and CHD complexity. The cumulative incidence of mental health conditions by 18 years of age in the CHD cohort was 35.1% (95% CI, 34.0%-36.1%), corresponding to aHRs of 1.64 (95% CI, 1.58-1.71), 1.41 (95% CI, 1.30-1.52), and 1.02 (95% CI, 0.98-1.07) compared with the general population, sibling, and major congenital anomaly cohorts, respectively. Mental health incidence rates showed prominent peaks in early childhood and adolescence. Males and children with severe or single-ventricle CHD demonstrated higher incidence rates of mental health conditions relative to females and children with mild or moderate CHD, respectively. Compared with the general population and sibling cohorts, incidence rates and aHRs in the CHD cohort were highest for severe stress reactions, attention deficit/hyperactivity disorder, intellectual disability, and autism spectrum disorder. Compared with children in the major congenital anomaly cohort, the aHRs were close to 1. More than one-third of children with CHD were diagnosed or treated for a mental health condition by 18 years of age. Mental health conditions began early in life and were most prominent among males and children with severe or single-ventricle heart disease.

Cardiometabolic Risk Factors in Mexican Adults With Congenital Heart Disease

BackgroundIn recent decades, adults living with congenital heart disease (ACHD) have improved their survival, thus increasing their predisposition to the onset of cardiometabolic risk factors and chronic health conditions. ObjectivesThe purpose of this study was to describe cardiometabolic risk profiles in the ACHD population and their relationship to congenital heart disease (CHD) lesion complexity. MethodsWe performed a cross-sectional study from ACHD in a third-tier referral center in Mexico City. The association between cardiometabolic risk factors and CHD complexity was estimated using logistic regression models. ResultsOur study cohort included 1,171 ACHD patients (median age: 31 [IQR: 23.2-42.7] years, male 63.6%). Cardiac diagnosis was classified as mild (44.9%), moderate (37.8%), and severe (17.2%) CHD complexity. Low high-density lipoprotein cholesterol (55%) was the most common cardiometabolic risk factor; followed by insulin resistance (54.5%) and prediabetes (52.4%). Patients with mild and moderate CHD had a higher prevalence of obesity and metabolic syndrome, while patients with severe CHD had a higher prevalence of hyperuricemia and subclinical hypothyroidism. In the logistic regression analysis, the severity of CHD was associated with higher odds of hyperuricemia (moderate CHD, OR: 1.87; 95% CI: 1.20-2.93; P = 0.010; severe CHD, OR: 2.75; 95% CI: 1.64-4.62; P < 0.001) and lower risks of metabolic syndrome (OR: 0.61; 95% CI: 0.41-0.91; P = 0.010), prediabetes (OR: 0.58; 95% CI: 0.42-0.81; P < 0.001), and arterial hypertension (OR: 0.49; 95% CI: 0.33-0.74; P < 0.001) compared with mild CHD complexity. ConclusionsWe observed high rates of cardiometabolic risk factors in Mexican ACHD patients and these risk profiles varied by CHD lesion complexity. These results highlight the need for ongoing metabolic health surveillance in the ACHD population.

Mobile Cardiac Telemetry Use to Predict Adverse Pregnancy Outcomes in Patients With Congenital Heart Disease

BackgroundPatients with congenital heart disease (CHD) have a higher incidence of arrhythmias during pregnancy, yet the utility of mobile cardiac telemetry (MCT) to predict adverse outcomes is unknown. ObjectivesThe purpose of this study is to determine whether arrhythmias on screening MCT correlate with adverse pregnancy outcomes. MethodsPatients with CHD prospectively enrolled in the Standardized Outcomes in Reproductive Cardiovascular Care initiative underwent 24-hour MCT (within 18 months prior to pregnancy). Positive findings on MCT were defined as episodes of bradyarrhythmia, symptomatic atrioventricular block, ectopic atrial or ventricular activity, and supraventricular or ventricular tachycardia. Clinically significant arrhythmia events (CSAEs) were those requiring medical or device intervention or an emergency room visit. Clinical events during the antepartum, intrapartum, and postpartum periods were compared using Fisher’s exact test. Analyses were performed using Stata version 16. ResultsIn 141 pregnancies in 118 patients with CHD, MCT detected positive findings in 17%. Adverse cardiac outcomes occurred in 11% of pregnancies, of which CSAE occurred in 3.5%. Positive MCT was significantly associated with subsequent CSAE (21% vs 0%, P < 0.001) and cumulative adverse maternal cardiac outcomes (33% vs 7%, P = 0.001) but did not correlate with obstetric (46% vs 41%, P = 0.660) or neonatal outcomes (33% vs 31%, P = 0.810). Of the patients with CSAE, 75% had ≥moderate CHD complexity. ConclusionsPatients with CHD had a high rate of positive MCT findings. This was associated with CSAE and adverse maternal cardiac outcomes. Patients with ≥moderate CHD complexity may benefit from screening MCT to improve preconceptual counseling and planning.

Comprehensive program development for congenital heart disease in the United Arab Emirates and in Singapore

Background/Objective. Establishment and development of tertiary-care centres for congenital heart disease (CHD) face multiple challenges as they need to be accessible, affordable/sustainable and provide the best possible outcomes. We report our experience of foundation a new tertiary-care CHD centre in the United Arab Emirates (UAE) and program development in Singapore.&#x0D; Methods. Prevalence and incidence of CHD in the context of local sociocultural environment was reviewed. Having established program elements of team, premises and workflow, quality assurance system was established. Outcome analysis, continuous audit modified internal therapeutic policies in accordance to international databases.&#x0D; Results. Consanguinity, segregated pattern of the population, high birth rate and low prenatal screening rate increased the incidence/prevalence and complexity of CHD in the UAE. Higher complexity/redo presentation and presence of associated anomalies were prevalent in Singapore at a lower birth rate. Increasing patient-load, strict professional working environment, strong governmental financial mandate for care nominated our centre into a market-leading position in the UAE. Singapore has a highly-developed, regulated, still competitive healthcare infrastructure that represents challenges for program development. Additional surgical activity from underserviced regions could provide the adequate CHD patient-pool that is critical to achieve team-expertise and ensure the best possible patient and program outcomes.&#x0D; Conclusion. CHD has significant public health aspects, however, new and/or developing centres face different challenges depending on the sociocultural and economic environment they function in. External demographic factors, case-load, complexity, referral patterns, health-care financing structure are difficult to adjust; internal factors: program structure, quality assurance, professional working framework are subjects for improvement.

Differences in Quality of Life in Children Across the Spectrum of Congenital Heart Disease

To create complexity groups based upon a patient's cardiac medical history and to test for group differences in health-related quality of life (HRQOL). Patients 8-18 years with congenital heart disease (CHD) and parent-proxies from the Pediatric Cardiac Quality of Life Inventory (PCQLI) Testing Study were included. Outcome variables included PCQLI Total, Disease Impact, and Psychosocial Impact scores. Using a patient's medical history (cardiac, neurologic, psychological, cognitive diagnosis), latent class analysis (LCA) was used to create CHD complexity groups. Covariates included demographics and burden of illness (number of: school weeks missed, physician visits in the past year, daily medications). Generalized estimation equations tested for differences in burden of illness and patient and parent-proxy PCQLI scores. Using 1,482 CHD patients (60% male; 84% white; age 12.3±3.0 years), LCA estimates showed four distinct CHD complexity groups (Mild, Moderate 1, Moderate 2, and Severe). Increasing CHD complexity was associated with increased risk of learning disorders, seizures, mental health problems, and history of stroke. Greater CHD complexity was associated with greater burden of illness (p<0.01) and lower patient- and parent-reported PCQLI scores (p<0.001). LCA identified four CHD complexity groupings. Increasing CHD complexity was associated with higher burden of illness and worse patient- and parent-reported HRQOL.

Crystalluria in adolescent and adult patients with congenital heart disease.

Crystalluria is a frequent finding in normal individuals and in patients suffering from urolithiasis. As nephrolithiasis has been associated with cardiovascular risk factors and most congenital heart disease (CHD) patients reach adulthood, the objective of this study is to determine the presence of crystalluria and if it influences their cardiovascular outcome. Case-control and observational prospective study design of patients with CHD older than 14years with a stable CHD verified with imaging tests and a control population. 214 patients with CHD [median age 21 (17-35) years and 41 (19%) males] and 345 controls were studied and followed up. None of them had symptoms of renal calculi. Nine (4%) patients with CHD and 24 (7%) patients in the control group showed crystalluria (p = 0.180), all of them composed of calcium oxalate. No significant differences were seen in age, sex, body mass index, CHD complexity, cardiovascular risk factors, NYHA functional class, cyanosis, and medical treatment between CHD patients with and without crystalluria. In relation to survival, 18 patientswith CHD had a major acute cardiovascular event (MACE) (3 strokes, 2 myocardial infarction, 9 cardiovascular death and 4 non cardiovascular mortality) during the follow up time [7.3 (4.4-8.5) years] without significant differences in the Kaplan-Meier analysis (p = 0.358) between patients with and without crystalluria. No significant differences were found between CHD and control patients in relation to crystalluria and it had no impact on the occurrence of cardiovascular events in the medium term follow up of patients with CHD.

The Influence of Illness Perception and Coping on Anxiety in Adults With Congenital Heart Disease

BackgroundUp to one-half of adults with congenital heart disease (CHD) experience psychological distress, including anxiety. ObjectivesThis paper sought to: 1) assess the contribution of illness perception in explaining anxiety symptoms beyond sociodemographic and medical variables in adults with CHD; and 2) investigate the potential mediating effect of coping style. MethodsCHD adult patients were recruited at Montreal Heart Institute between June 2019 and April 2021 for this cross-sectional study. Participants responded to self-reported questionnaires (Hospital Anxiety and Depression Scale, Brief Illness Perception Questionnaire, and Brief COPE). Medical characteristics (CHD complexity, NYHA functional class, and cardiac devices) were collected from medical records. We conducted hierarchical multiple linear regression and mediation analyses. ResultsOf the 223 participants (mean age 46 ± 14 years, 59% women), 15% had clinically significant anxiety symptoms. Medical and sociodemographic variables explained 15% of the variation in anxiety symptoms. Adding illness perception explained an additional 18% of the variation in anxiety. This R2 change was significant (F[1,188] = 49.06, P < 0.0001). Illness perception explained more variance (18%) than medical and sociodemographic variables combined. A more threatening perception of illness was associated with greater anxiety symptoms (β = 0.45, P < 0.0001). Furthermore, illness perception was associated with coping, which was linked to reduced anxiety symptoms. Coping response style accounted for 20% of the total effect of illness perception on anxiety. ConclusionsIllness perception and coping are associated with anxiety in adults with CHD. Future initiatives should assess whether targeting these potentially modifiable factors effectively prevents or mitigates anxious symptoms in adults with CHD.

Impaired Exercise Capacity and Mortality Risk in Adults With Congenital Heart Disease

BackgroundAn association between impaired exercise capacity and risk of mortality has been reported among adults with congenital heart disease (CHD). Over the years, treatment methods have improved and may influence outcome. Hence, we report data from a national cohort reflecting a contemporary population. ObjectivesThe purpose of this study was to investigate the association between exercise capacity (workload) and mortality in a large registry-based cohort. MethodsData on exercise capacity using cycle ergometer were retrieved from the national registry of CHD. The association between predicted exercise capacity (%ECpred) and mortality was analyzed using Cox regression. ResultsIn total, 3,721 adults (>18 years, 44.6% women) with CHD were included. The median age was 27.0 years (IQR: 20.8-41.0 years) and mean %ECpred was 77% ± 20%. Over a mean follow-up of 9.4 ± 6.0 years, there were 214 (5.8%) deaths. The Multivariable Cox regression model showed that moderately and severely impaired exercise capacity (50-<70 %ECpred: HR: 2.1, 95% CI: 1.4-3.2, P < 0.001, and <50 %ECpred: HR: 3.5, 95% CI: 2.1-6.0, P < 0.001) and CHD complexity were associated with higher mortality (moderate complexity: HR: 1.9 95% CI: 1.2-3.0, P = 0.003, great complexity: HR: 2.3 95% CI: 1.3-4.2, P = 0.008) when adjusted for New York Heart Association class, physical activity, cardiovascular medication, sex, impaired systemic ventricular function, and age. ConclusionsImpaired exercise capacity and CHD complexity are independently associated with all-cause mortality in patients with CHD. Exercise capacity is an easily accessible variable that may be a useful tool for risk assessment in adult patients with CHD, but this needs confirmation in prospective studies.

A deep learning-based method for pediatric congenital heart disease detection with seven standard views in echocardiography

BackgroundWith the aggregation of clinical data and the evolution of computational resources, artificial intelligence-based methods have become possible to facilitate clinical diagnosis. For congenital heart disease (CHD) detection, recent deep...

Congenital Heart Disease with Congenital Diaphragmatic Hernia: Surgical Decision Making and Outcomes

To describe the types of congenital heart disease (CHD) in a congenital diaphragmatic hernia (CDH) cohort in a large volume center and evaluate surgical decision making and outcomes based on complexity of CHD and associated conditions. A retrospective review of patients with CHD and CDH diagnosed by echocardiogram between 01/01/2005 and 07/31/2021. The cohort was divided into 2 groups based on survival at discharge. Clinically important CHD was diagnosed in 19% (62/326) of CDH patients. There was 90% (18/20) survival in children undergoing surgery for both CHD and CDH as neonates, and 87.5 (22/24) in those undergoing repair initially for CDH alone. A genetic anomaly identified on clinical testing was noted in 16% with no significant association with survival. A higher frequency of other organ system anomalies was noted in nonsurvivors compared with survivors. Nonsurvivors were more likely to have unrepaired CDH (69% vs 0%, P<.001) and unrepaired CHD (88% vs 54%, P<.05), reflecting a decision not to offer surgery. Survival was excellent in patients who underwent repair of both CHD and CDH. Patients with univentricular physiology have poor survival and this finding should be incorporated into pre and postnatal counseling about eligibility for surgery. In contrast, patients with other complex lesions including transposition of the great arteries have excellent outcomes and survival at 5years follow-up at a large pediatric and cardiothoracic surgical center.

Association of maternal methionine synthase reductase gene polymorphisms with the risk of congenital heart disease in offspring: a hospital-based case-control study

Background Evidence suggests that periconceptional folic acid supplementation may prevent congenital heart disease (CHD). Methionine synthase reductase (MTRR) is one of the key regulatory enzymes in the folate metabolic pathway. This study aimed to comprehensively evaluate the association of single nucleotide polymorphisms (SNPs) in the maternal MTRR gene with CHD risk in offspring. Methods A hospital-based case-control study involving 740 mothers of CHD cases and 683 health controls was conducted. Results The study showed that maternal MTRR gene polymorphisms at rs1532268 (C/T vs. C/C: aOR = 1.524; T/T vs. C/C: aOR = 3.178), rs1802059 (G/A vs. G/G: aOR = 1.410; A/A vs. G/G: aOR = 3.953), rs2287779 (G/A vs. G/G: aOR = 0.540), rs16879334 (C/G vs. C/C: aOR = 0.454), and rs2303080 (T/A vs. T/T: aOR = 0.546) were associated with the risk of CHD. And seven haplotypes were observed to be associated with the risk of CHD, T-G-A haplotype (OR = 1.298), C-A-C-C (OR = 4.824) and A-G haplotype (OR = 1.751) were associated with increased risk of CHD in offspring; A-A-A (OR = 0.773), T-A-A (OR = 0.557), G-A-C-C (OR = 0.598) and G-C (OR = 0.740) were associated with decreased risk of CHD in offspring. Conclusions Maternal MTRR gene polymorphisms were associated with CHD in offspring, and its haplotypes have affected the occurrence of CHD. Furthermore, given the complexity and heterogeneity of CHD, the mechanisms by which these factors influence offspring cardiac development remain unknown, and studies in larger samples in an ethnically diverse population are needed.