Left ventricular hypertrophy (LVH) secondary to hypertension is associated with cardiovascular events in adulthood. Prevalence of abnormal blood pressure and LVH in youths with congenital heart disease (CHD) is understudied despite childhood hypertension predicting adult hypertension. This study aimed to describe the prevalence of hypertension and LVH in adolescents with CHD and factors associated with LVH in this population.

This was a retrospective analysis of echocardiogram reports from patients with CHD aged 13-17 years with documented systolic blood pressure (SBP), height, weight, and left ventricular mass (LVM) indexed to body size (LVMI-ht2.7). Patients were stratified by SBP and CHD type. Hypertension and LVH prevalence were calculated; linear regression models assessed factors associated with LVH.

Of 853 patients (mean age 15.5 ± 1.5 years, 57.1 % male), 25.1 % had elevated SBP, whereas 11.6 % and 5.7 % had stage 1 and stage 2 hypertension, respectively. LVH was more prevalent with higher SBP (37.4 % elevated, 32.3 % stage 1 hypertension, and 40.7 % stage 2 hypertension) versus 19.6 % normotensive. BMI percentile and SBP were significantly associated with LVMI-ht2.7; for 10 % BMI percentile and 10 mmHg SBP increases, LVMI-ht2.7 increased by 1.2 g/m2.7 and 0.93 g/m2.7, respectively, after adjustment for age, sex, race, SBP, BMI, and CHD lesion.

Adolescents with CHD have a high prevalence of abnormal SBP and LVH. BMI percentile and SBP were associated with LVMI-ht2.7. Findings support screening for BMI and hypertension in youths with CHD as this population has increased baseline cardiovascular risk that may be compounded by obesity and chronic hypertension.

Oral propranolol is the first-line treatment for Infantile hemangioma (IH). However, there is a lack of studies indicating whether the congenital heart disease (CHD) makes a difference in oral propranolol therapy (OPT). Previous studies have only confirmed the safety and efficacy of OPT in asymptomatic CHD children.

This study aimed to evaluate and compare the clinical outcomes in pediatric patients with CHD and those without CHD following OPT and to assess risk factors that may contribute to recurrence.

A total of 310 children who received OPT for IH between January 2020 and January 2023 were included in a retrospective study. The study aimed to assess demographic data, clinical symptoms, auxiliary examinations, and treatment effects. To compare clinical outcomes between children with and without CHD, one-to-one propensity score matching (PSM) was applied.

Among the 310 patients, 192 (61.94%) had CHD. After propensity-matching analysis, in the presence of CHD, the age at treatment withdrawal was significantly higher (15.0 months vs. 12.0 months, P < 0.05), the treatment duration was longer (12.0 months vs. 10.0 months, P < 0.05), and the recurrence rate was greater (32.9% vs. 5.3%, P < 0.001). No significant difference in the degree of regression was observed between the CHD and non-CHD groups.

Pediatric patients with CHD exhibit a later age at treatment withdrawal, a longer duration of therapy, and a higher recurrence rate compared to those without CHD.

Heart failure (HF) is a growing public health concern, with an increasing incidence among younger populations. Traditionally, HF was considered a condition primarily affecting the elderly, but of late, emerging evidence hints at a rapidly rising HF incidence in youth in the past 2 decades. HF in youth has been linked to a complex interaction between emerging risk factors, such as metabolic syndrome, environmental exposures, genetic predispositions, and lifestyle behaviors. This review examines these evolving determinants, including substance abuse, autoimmune diseases, and the long-term cardiovascular effects of coronavirus disease 2019, which disproportionately affect younger individuals. Through a comprehensive analysis, the study highlights the importance of early detection, targeted prevention strategies, and multidisciplinary management approaches to address this alarming trend. Promoting awareness and integrating age-specific interventions could significantly reduce the burden of HF and improve long-term outcomes among younger populations.

Chylothorax, a postoperative complication of CHD surgery, involves chyle accumulation in the pleural cavity, posing challenges in diagnosis and management. This retrospective study investigates the prevalence, aetiology, management, and outcomes of postoperative chylothorax in paediatric patients undergoing cardiac corrective surgery at a tertiary care centre over 15 years. Medical records of paediatric patients who underwent cardiothoracic surgery at the Children's Heart Center at the American University of Beirut Medical Center between 2007 and 2022 were retrospectively reviewed. Data collection included demographic characteristics, blood parameters, chylous fluid characteristics, diagnostic criteria, treatment modalities, and hospitalisation details. Ethical approval was obtained, and descriptive statistics were employed using SAS 9.4. Among 2,997 children who underwent cardiothoracic surgery, nineteen cases of postoperative chylothorax were identified. The majority were females (63.2%) with a median age of 9 months. Glenn, Fontan, and Blalock-Taussig shunt-related surgeries were the most common operations associated with chylothorax. Single ventricle physiology was the predominant CHD observed (58%). Diagnosis relied primarily on clinical presentation, imaging studies, and triglyceride levels in pleural fluid. Treatment options included conservative dietary modifications, medical therapy such as octreotide, and surgical intervention if necessary. No mortalities were reported, and patients were adequately followed up. This study sheds light on postoperative chylothorax in paediatric cardiac patients, offering insights into its epidemiology, aetiology, clinical features, and treatment outcomes. While conservative and medical approaches effectively managed chylothorax in this group, larger studies are needed to develop standardised diagnostic and treatment protocols, improving outcomes in paediatric patients with postoperative chylothorax.

Simultaneous acute limb ischemia (ALI) and pulmonary embolism (PE) are extremely rare, with the current literature providing a limited understanding of shared mechanisms. We report a rare case of concurrent ALI and PE presentation in a patient with a history of repaired tetralogy of Fallot (TOF), emphasizing the possible association between congenital heart disease and thromboembolic risk, potentially through residual hemodynamic abnormalities or arrhythmias. The case involves a 48-year-old male with a history of TOF repair in childhood who developed simultaneous ALI and PE approximately 48 years after the surgical repair. The patient presented with sudden right lower extremity pain and swelling; was classified as Rutherford IIa ALI; and underwent urgent endovascular revascularization that included an overnight tissue plasminogen activator infusion and a relook angiogram the next day. During admission, the common embolic etiologies of his presentation were excluded by multiple investigations, including transthoracic echocardiography, thrombophilia panel, and occult malignancy screens. Although the patient had multiple cardiovascular risk factors, including obesity, smoking, and hypertension, it is most likely the history of TOF repair that contributed the most to the concurrent thromboembolic presentation, especially given that TOF repair has been reported to be associated with chronic complications in adult patients, such as persistent right ventricular dysfunction and arrhythmias. A multidisciplinary team of interventional cardiologists, pulmonologists, and hematologists managed the case, reflecting the difficulty of managing concomitant thromboembolic events and monitoring and evaluating thromboembolic risk factors for treated congenital heart disease, most specifically TOF, in adult patients.

Various studies indicated that pregnant women living near UONG sites may be more likely to give birth to infants with CHDs due to exposure to air, water, and soil pollution generated by these sites. We systematically searched three English-language databases-PubMed, Scopus, and the Web of Science Core Collection-from their inception until September 21, 2024 to include all types of epidemiological studies that explored the associations between maternal residential proximity to UONG sites and CHDs in the US. We screened a total of 282 unique studies and included six cohort and case-control studies conducted between 1996 and 2017 for evidence synthesis. These studies, conducted in Texas (two studies), Colorado (two), Ohio (one), and Oklahoma (one), encompassed almost 4.5 million births (including 88,638 CHDs cases). All risk estimates were adjusted for socioeconomic status and behavioral factors. Overall, the findings vary significantly across studies in relation to different exposure categories and buffer distances. Four studies reported significant positive associations between proximity to UONG sites and increased odds of CHDs in newborns compared to pregnant women with no recorded exposure to these sites, with adjusted ORs ranging from 1.04 (95 % CI: 1.01-1.07) to 2.62 (95 % CI: 2.48-2.77). The inconsistencies across the included studies make it challenging to pool effect sizes and determine the true impact of these sites on CHD risk in newborns. We also believe that further research is needed worldwide, particularly in regions where these sites are prevalent, as the included studies are limited to the U.S. Our study highlights the need for simple and practical interventions to reduce associated exposures in these communities, as our findings reveal that fetuses of mothers living in proximity to UONG sites are at an increased risk of CHDs.

Research into common pathological mechanisms and genetic factors is essential for better understanding, prevention and management of cardiovascular disease in congenital heart disease (CHD) survivors. This study aims to explore the possible causal associations between CHD and acquired cardiovascular diseases with the help of genetic instruments.

This study utilized summary data from genome-wide association studies (GWASs) of CHD (including congenital anomalies of great vessels and heart septal defect) and seven different cardiovascular diseases, employing a two-sample Mendelian randomization (MR) design. Analysis was conducted using the inverse variance weighted method (IVW), weighted median, weighted mode, and MR-Egger regression methods. Sensitivity analysis included MR-Egger, MR-PRESO, Cochran's Q, and leave-one-out.

In this study, 15 instrumental variables related to CHD were selected [F-statistic =23.55 (21.27, 28.84)]. The IVW MR analysis revealed potential association between genetically predicted congenital anomalies of great vessels and higher risk of atrial fibrillation [odds ratio (OR) =1.07, 95% confidence interval (CI): 1.02-1.12, P=0.004], unspecified stroke (OR =1.07, 95% CI: 1.02-1.12, P=0.008) and ischemic stroke (OR =1.07, 95% CI: 1.01-1.14, P=0.02). No significant associations were observed between other factors. The MR-Egger regression results indicated that these analyses were not affected by horizontal pleiotropy. Leave-one-out analysis showed that the causal effects were not driven by any single mutation.

This study found a potential causal association between exposure to congenital anomalies of great vessels and higher risk of atrial fibrillation, stroke and ischemic stroke. Discussed genetic factors might potentially help to identify a higher risk of stroke and other cardiovascular diseases.

Cardiovascular diseases (CVD) and hypertension are leading causes of morbidity and mortality worldwide, significantly affecting quality of life (QoL). Stress, anxiety, and poor psychological well-being often exacerbate these conditions, creating a vicious cycle. Relaxation techniques, including progressive muscle relaxation (PMR) and diaphragmatic breathing, assist in contracting and relaxing muscle groups to aid individuals in identifying and reducing physical tension and foster relaxation due to increased parasympathetic nerve activity, resulting in emotional tranquility. This systematic review explores the efficacy of relaxation techniques in reducing stress and improving QoL in patients with CVD and hypertension.

The review adhered to PRISMA guidelines, searching five major databases (PubMed, EBSCOhost, Web of Science, PsychINFO, and Scopus) with a search time range from 2014 to 2024. This review has been registered on Open OSF (n) 6HYG9.

The results from several studies highlight the positive effects of relaxation techniques on both cardiovascular health and psychological well-being. Various methods, such as PMR, breathing exercises, and biofeedback, significantly reduced blood pressure (BP), anxiety, and stress levels in hypertensive and cardiovascular patients. Additionally, interventions like Benson's relaxation and jaw relaxation demonstrated improvements in patient QoL and cardiovascular health outcomes, underscoring the potential benefits of integrating relaxation techniques into treatment programs for heart-related conditions.

By targeting both the physiological and psychological aspects of the patient's well-being, these methods contribute to improved BP regulation, reduced heart rate, and alleviation of anxiety and stress symptoms. When incorporated into cardiac rehabilitation programs, these techniques have shown positive effects on emotional well-being and overall QoL, making them a valuable tool for patients recovering from cardiovascular events or managing chronic CVD. More robust, high-quality studies are needed to refine the optimal methods, duration, and frequency of these interventions.

Despite advances in treatment and survival, individuals with congenital heart defects (CHD) have a higher risk of heart failure (HF) compared to the general population.

To evaluate comorbidities associated with HF in patients with CHD with a goal of identifying potentially modifiable risk factors that may reduce HF-associated morbidity and mortality.

Five surveillance sites in the United States linked population-based healthcare data and vital records. Individuals with an ICD-9-CM code for CHD aged 11-64 years were included and were stratified by presence of HF diagnosis code. Prevalence of death and cardiovascular risk factors based on diagnosis codes were compared by HF status using log-linear regression.

A total of 25,343 individuals met inclusion/exclusion criteria. HF was documented for 2.2% of adolescents and 12.9% of adults with CHD. Adolescents and adults with HF had a higher mortality than those without HF. In both age groups, HF was positively associated with coronary artery disease, hypertension, obesity, diabetes, and increased healthcare utilization compared to those without HF.

Within this population-based cohort, over 1 in 50 adolescents and 1 in 8 adults with CHD had HF, which was associated with increased mortality. Modifiable cardiovascular comorbidities were associated with HF.

Five sites in the United States linked population-based healthcare data and vital records to establish surveillance network for identifying the factors which influence congenital heart disease (CHD) outcomes. Survivors of CHD frequently develop heart failure across the lifespan. Over 1 in 50 adolescent and 1 in 8 adult survivors of CHD have heart failure which is associated with increased mortality compared to CHD survivors without heart failure. Heart failure development is associated with potentially modifiable cardiovascular risk factors such as hypertension, coronary artery disease, and diabetes. Controlling modifiable cardiovascular risk factors may serve to lower the risk of heart failure and mortality in survivors of congenital heart disease of all ages.

Adolescents with congenital heart disease (CHD) have elevated risk for acquired cardiovascular complications, increasing their vulnerability to e-cigarette-related health harms. Impulsivity and risky decision-making have been associated with adolescent substance use, but the relationships between these factors and e-cigarette-related outcomes among cardiovascular at-risk adolescents with CHD are unknown. This cross-sectional study aimed to (a) determine the associations of impulsivity and risky decision-making with e-cigarette-related outcomes (i.e. susceptibility, ever use, perceptions of harm and addictiveness) via variable-oriented analysis (logistic regression), (b) identify groups of adolescents with similar profiles of impulsivity and risky decision-making via exploratory person-oriented analysis (latent profile analysis; LPA), and (c) examine differences on e-cigarette-related outcomes between profile groups. Adolescents aged 12 to 18 years with CHD (N = 98) completed a survey assessing impulsivity facets (Short UPPS-P) and e-cigarette-related outcomes and were administered a risky decision-making task (Iowa Gambling Task, Version 2; IGT2). In variable-oriented analyses, impulsivity facets (negative urgency, positive urgency, lack of premeditation) but not risky decision-making were associated with e-cigarette susceptibility and ever use. The exploratory LPA identified two groups with similar patterns of responding on the Short UPPS-P and IGT2 labeled "Low Impulsivity" and "High Impulsivity," which were primarily characterized by significant differences in negative and positive urgency. Adolescents in the High Impulsivity group had increased odds of e-cigarette susceptibility but not ever use compared to the Low Impulsivity group. This work indicates that strategies to prevent e-cigarette use among adolescents with CHD may be enhanced by addressing impulsivity, particularly negative and positive urgency.

Microcardia and cardiomegaly are good diagnostic and prognostic tools for several diseases. This study investigated the distribution of microcardia and cardiomegaly among students of the University of Health and Allied Sciences (UHAS) in Ghana to determine the prevalence of microcardia and cardiomegaly across gender, and to evaluate the correlation between the presence of these heart conditions and age.

This retrospective study involved a review of 4519 postero-anterior (PA) chest X-rays (CXRs) between 2020 and 2023. The CXRs were taken using a digital radiography machine. The CXRs were obtained on PA projection, with the students upright, on arrested inspiration and a source-to-detector distance of 180 cm. Only CXR images with no significant rotation (assessed using the distance between the medial ends of the clavicles and the vertebral spinous processes) and lung abnormalities were included in the study. The transverse cardiac diameter (TCD) and transverse thoracic diameter (TTD) were measured and cardiothoracic ratio (CTR) calculated for each CXR. The CTR was calculated as a ratio of TCD/TTD and categorised as microcardia (CTR < 0.42), normal heart size (0.42 < CTR ≤ 0.50) and cardiomegaly (0.50 < CTR ≤ 0.60). The data was analysed using the Statistical Package for the Social Sciences (SPSS) version 26 and descriptive and inferential statistics were conducted. The Mann-Whitney U Test was conducted to determine statistically significant differences in TCD, TTD and CTR across female and male students. Spearman's rho correlation was conducted to investigate the relationships between age and TCD, TTD and CTR.

The students were aged 15-37 years (mean = 19.60 ± 2.20) with a modal age of 18 years. The study included 2930 (64.84%) females and 1589 (35.16%) males. Most of the students [3384 (74.88%)] had normal heart sizes. However, 647 (14.32%) had microcardia whereas 488 (10.80%) had cardiomegaly. Out of the students suffering from cardiomegaly, 478 (97.95%) and 10 (2.05%) had mild/moderate and severe cardiomegaly respectively. Cardiomegaly was more common among the female students (p < 0.05) and those aged 15-22 years [418 (85.66%)]. There was no correlation between TCD, TTD and CTR and age [ r = 0.01, p = 0.42; r = 0.02, p = 0.17; r = 0.01, p = 0.66, respectively].

The majority of the students had normal heart sizes, but a few had microcardia and cardiomegaly. Cardiomegaly was more common among the female students. The presence of microcardia and cardiomegaly could have health implications for the students and increase their risks of cardiovascular diseases hence these students should be further screened medically for the underlying causes though they may be asymptomatic. Stakeholders in higher education and public health may find this study useful in developing strategies to minimise the prevalence of cardiac diseases and also improve treatment.

The aim of this experiment is to investigate the bioinspired diagnostic performance of color Doppler ultrasound (CDUS) and two-dimensional (2D) echocardiography (ECG) for fetal congenital heart disease (FCHD). The research subjects were 33 expectant mothers with a diagnosis of FCHD at Xiangyang No. 1 People's Hospital between January 2017 and January 2021. The accuracy, sensitivity, and specificity of the two detection techniques were computed to ascertain and compare the diagnostic efficiency after CDUS and ECG examinations of all pregnant women. According to the findings, the prenatal CDUS detection rate was 92.61% higher than the 2D ECG detection rate (64.32%). The CDUS had an accuracy of 93.94%, sensitivity of 93.55%, and specificity of 100%, detecting 29 true positives, 0 false positives, 2 false negatives, and 2 true negatives. At 84.85% accuracy, 88.89% sensitivity, and 80% specificity, the 2D ECG identified 16 true positives, 3 false positives, 2 false positives, and 12 true negatives. There was a statistically significant (P < 0.05) difference between the accuracy, sensitivity, and specificity of 2D ECG and CDUS. In summary, CDUS was more effective than 2D ECG in diagnosing prenatal FCHD, and it also had a lower rate of missed and incorrect diagnoses.

Children with repaired tetralogy of Fallot (rToF) often have pulmonary regurgitation with right ventricular (RV) dilatation and dysfunction, whereas less is known about the effect on the left ventricle (LV). The aim was to investigate LV haemodynamic variables derived from non-invasive pressure-volume loops in children with rToF and how they compare to controls and previous research on adults.

Ten children with rToF and pulmonary regurgitation (12 years [10-13], 6 males) and 10 age- and sex-matched healthy controls (12 years [10-14], 6 males) underwent brachial blood pressure in conjunction with cardiac magnetic resonance imaging. Pressure-volume loops were derived by brachial blood pressure together with LV volumes throughout the cardiac cycle in short-axis cine images yielding several haemodynamic variables, including arterial elastance. The RV endocardial border was delineated in end-diastole and end-systole.

Children with rToF and pulmonary regurgitation had larger RV end-diastolic volume (136 [114-156]) than controls (100 [94-112] ml/m2; p = 0.0015) and smaller LV end-diastolic volume (83 [58-91] ml/m2) than controls (101 [92-110] ml/m2; p = 0.002). Arterial elastance was higher in children with rToF (1.5 [1.3-2.7] mmHg/ml) than in controls (1.1 [1.0-1.5] mmHg/ml; p = 0.02). Heart rate was higher in children with rToF (77 [74-81] bpm) than in controls (69 [65-75] bpm; p = 0.027).

Children with rToF had higher arterial elastance and heart rate than controls, likely due to increased sympathetic tone to compensate for impaired LV filling following pulmonary regurgitation. If this contributes to increased risk of adverse cardiovascular and cerebrovascular events remains to be studied.

To estimate the coverage of newborn pulse oximetry screening (POS) in Brazil, as well as identifies associated factors and the proportion of positive screening results.

Coverage was estimated based on the most recent National Health Survey (2019). Adjusted marginal prevalence ratios were estimated via poisson regression model with robust variance.

The POS coverage was 66.3 % (95 %CI: 65.5-67.1; N = 3,140,023) and was higher in children born in privately funded hospitals (PFHs) than in the Unified Health System (SUS): 78.1 % (76.7-79.5) versus 61.1 % (60.2-62.1). In the North region, the POS coverage in PFHs (64.9 %, 59.7-70.1) was lower than that in the South (82.5 %, 79.4-85.6) and the Southeast (81.5 %, 79.3-83.6); it was even lower in SUS in the North (44.0 %; 42.4-45.6). After a federal ordinance providing financial resources to postscreening diagnostic, the screening coverage in SUS increased from 57.6 % (56.2-59.1) to 64.6 % (63.3-65.9). The proportion of positive screening tests was 9.2 % (8.9-9.5) in SUS and 7.8 % (7.3-8.3) in PFHs, of which 40.8 % (40.5-41.1) underwent complementary exams in SUS and 57.2 % (56.7-57.7) in PFHs. In the multivariate model, the main independent predictors of POS were the coverage of other newborn screening tests.

Inequalities were found between major regions and healthcare systems. Government financial incentives have reduced this inequality, although the percentage of postscreening complementary exams remains insufficient and unequal. The main independent predictors of screening prevalence were those related to the organization of health services.

Children born to mothers with polycystic ovary syndrome have a higher prevalence of cardiovascular risk factors and of subclinical cardiovascular disease, but the association between maternal polycystic ovary syndrome and cardiovascular disease in offspring is unclear. We conduct a register-based cohort study of 6 839 703 live singleton births from Denmark (1973-2016) and Sweden (1973-2014) and follow them for up to 48 years. Using Cox regression models, we find that offspring of mothers with polycystic ovary syndrome have a higher risk of overall cardiovascular diseases and of its specific subtypes, independently of comorbidities related to polycystic ovary syndrome. Cousin analyzes suggest that familial confounding does not explain our results. If our findings are replicated by future studies, children of women with polycystic ovary syndrome may benefit from early cardiovascular prevention efforts.

Adults with congenital heart disease (ACHD) are a heterogeneous group with a large variation in the severity of lesions and symptoms. This population has rapidly grown in recent years due to improved surgical and medical treatments. Sedentary time and physical activity (PA) and health among individuals classified with single lesions, for example, shunt defects such as atrial and ventricular septal defects, and patent foramen ovale (PFO) with stroke are less studied. The present study describes the study protocol and examines associations between sedentary time, PA, circulating biomarkers in the blood (heart and muscles) and heart failure. Results have the potential to supply the healthcare system with information if further action to promote cardiovascular health in ACHD is needed.

A cross-sectional design will be used with data from the local heart register, Swedish Registry for Congenital Heart Disease in Uppsala, Sweden. Individuals ≥18 years of age with simple congenital heart disease, according to the definition atrial septal defect, ventricle septal defect or PFO as the cause of stroke, will be included.

Self-reported questionnaire: demographic characteristics, education, the prevalence of diabetes, smoking, ethnicity, self-reported level of sitting time and leisure-time PA/exercise, everyday activities, commuting and degree of symptoms associated with exertion. Blood analyses: blood lipids (total cholesterol, high-density lipoprotein and low-density lipoprotein cholesterol, apolipoprotein A1 and B), creatinine, cystatin-C (eGFR), creatine kinase, myoglobin, high-sensitivity troponin, brain natriuretic peptide, C-reactive protein and glycated haemoglobin. Quantitative methods will be used for statistical analyses.

The Swedish Ethical Review Authority has approved the study (registration numbers 2022-06525-01 and 2023-02082-02). Results will be disseminated in peer-reviewed journals, research meetings, conferences and possibly patient organisations.

Patients with congenital heart disease (CHD) have an increased risk of developing acquired cardiovascular diseases. However, the risk of venous thromboembolism (VTE) in patients with CHD is unknown. We aimed to investigate the incidence and risk of VTE in patients with CHD compared with matched controls without CHD.

Data from Swedish health registers were used to identify all patients with CHD between 1970 and 2017 in Sweden. Each patient with CHD was matched with 10 controls from the Swedish Total Population Register. The primary outcome of the study was an event of VTE. Follow-up was from birth until VTE, death, or the end of the study (2017). Cox proportional hazard models were used to investigate the risk of VTE in patients with CHD and controls. A total of 67 814 patients with CHD and 583 709 matched controls were identified and included in the study. During a mean follow-up of 15.9 (SD ± 12.5) years, 554 (0.8%) patients with CHD and 1571 (0.3%) controls developed VTE. The risk of VTE was 3.3 [95% confidence interval [CI] 2.6-3.4) times higher in patients with CHD than in controls. Patients with conotruncal defects had the highest risk of VTE (hazard ratio 7.06, 95% CI 5.52-9.03).

In our nationwide study, we found that the risk of VTE in patients with CHD was more than three times higher than in matched controls. The highest risk of VTE was in patients with the most complex lesions. Further research is crucial to clarify the underlying risk factors and prevent VTE in patients with CHD.

The risk of atherosclerotic cardiovascular disease (ASCVD) in adults with congenital heart disease (ACHD) is comparable to that of the general population and is driven by traditional ASCVD risk factors.

The aim of the study was to estimate the prevalence of traditional ASCVD risk factors (hypertension, dyslipidemia, diabetes mellitus [DM], obesity, smoking, and physical inactivity) in ACHD and compare it with the general population.

A systematic literature search was conducted up to May 15, 2024, to identify studies (with or without control group) reporting the prevalence of ASCVD risk factors in ACHD. Meta-analyses were conducted to synthesize the prevalence of risk factors and compare it with that of the general population, where applicable.

We identified 62 studies (30 controlled) encompassing 110,469 ACHD (mean age 39 years; 52% males, 88% with simple/moderate congenital heart disease complexity). Of these, 54% (45%-63%) reported lack of regular exercise, 33% (26%-40%) had hypertension, 18% (14%-22%) were obese, 17% (11%-25%) had dyslipidemia, 12% (9%-14%) were current smokers, and 7% (5%-9%) had DM. The prevalence of ASCVD risk factors was similar in ACHD and controls, with the exception of DM (higher prevalence in ACHD) and smoking (lower prevalence in ACHD). Significant heterogeneity was observed among the included studies, partially explained by differences in age, congenital heart disease complexity, and the presence of cyanosis.

Except for DM and smoking, the prevalence of traditional ASCVD risk factors is similar in ACHD compared to the general population. Further research is needed to determine whether interventions applied in the general population are also effective in ACHD.

Congenital heart disease (CHD) is the most common birth defect, occurring in roughly 40,000 U.S. births annually. Malnutrition and feeding intolerance (FI) in CHD range from 30% to 42% and are associated with longer hospitalization and increased mortality. Cardiopulmonary bypass (CPB) required for surgical repair of CHD induces a systemic inflammatory response worsening intestinal dysbiosis and leading to intestinal epithelial barrier dysfunction (EBD), possibly contributing to postoperative FI. The objective of this study was to determine the relationship of postoperative FI with intestinal microbiome, short-chain fatty acids (SCFAs), and EBD in pediatric CHD after cardiac surgery. This was a prospective study of patients aged 0-15 years undergoing cardiac surgery with CPB. Samples were collected preoperatively and postoperatively to evaluate the gut microbiome, plasma EBD markers, short-chain fatty acids (SCFAs), and plasma cytokines. Clinical data were collected to calculate a FI score and evaluate patient status postoperatively. We enrolled 26 CPB patients and identified FI (n = 13). Patients with FI had unique microbial shifts with the reduced SCFA-producing organisms Rothia, Clostridium innocuum, and Intestinimonas. Patients who developed FI had associated elevations in the plasma EBD markers claudin-2 (P < 0.05), claudin-3 (P < 0.01), and fatty acid binding protein (P < 0.01). Patients with FI had reduced plasma and stool SCFAs. Mediation analysis showed the microbiome functional shift was associated with reductions in stool butyric and propionic acid in patients with FI. In conclusion, we provide novel evidence that intestinal dysbiosis, markers of EBD, and SCFA depletion are associated with FI. These data will help identify mechanisms and therapeutics to improve clinical outcomes following pediatric cardiac surgery.NEW & NOTEWORTHY Feeding intolerance contributes to postoperative morbidity following pediatric cardiac surgery. The intestinal microbiome and milieu play a vital role in gut function. Short-chain fatty acids are gut and cardioprotective metabolites produced by commensal bacteria and help maintain appropriate barrier function. Depletion of these metabolites and barrier dysfunction contribute to postoperative feeding intolerance following cardiac surgery. Identifying mechanistic targets to improve the intestinal milieu with the goal of improved nutrition and clinical outcomes is critical.

Background: Malnutrition and poor weight gain has been reported in infants with congenital heart defects (CHDs); however data in older children with CHDs are limited. In order to obtain representative data on the nutritional status, dietary behavior, and potential influencing factors in school-aged children with CHDs, we performed a nationwide online survey. Methods: Patients aged 6 to 17 years registered in the German National Register for CHDs were asked to participate in this study by completing the German Health Interview and Examination Survey for Children and Adolescents (KiGGS) eating study questionnaire in order to assess their self-reported dietary habits. The use of the same questionnaire enabled a comparison with a representative subset of 4569 participants of the KiGGS study. Results: A total of 894 patients (mean age 12.5 ± 3.0 years; 47.2% female) were enrolled. Patients were allocated according to anatomic complexity into simple (23.8%), moderate (37.8%), and complex CHDs (38.4%). The consumption of sugar-containing food (p < 0.001) and fast food (p < 0.05) was significantly lower among the CHD patients than in the healthy children. Children with CHDs showed significantly lower body mass index (BMI) percentiles (p < 0.001) compared with their healthy peers, while children with complex and moderate CHDs had the lowest BMI. While in CHD patients, the BMI percentiles were not related to unhealthy food, there was a strong correlation with the CHD severity and number of previous interventions (p < 0.01). Conclusions: According to this nationwide survey, school-aged children with complex CHD are at risk of undernutrition, which is not due to dietary habits but to CHD severity and repeated surgery.

Individuals with bicuspid aortic valve (BAV) have historically been advised to avoid contact sports and isometric exercise for risk of increasing aortic dilation and valve disease. There is mounting evidence that current sports participation guidelines qualify children for a high rate of sports exclusion, and that this population is at increased risk of obesity. The primary aim of this study was to evaluate relationship between sports participation and aortic dilation in children with bicuspid aortic valve and secondarily the relationship between competitive sports participation and obesity. We performed a review of children between the ages of 8 and 17 years with isolated BAV followed at Oregon Health & Science University. We excluded those with other congenital heart diseases, genetic conditions, prior cardiac intervention, and inability to ambulate independently. Parents completed a phone survey detailing their child's level of daily activity and participation in competitive sports. Demographic information and most recent echo findings were collected from the electronic medical record. We found no difference between the aortic diameters of athletes vs non-athletes. We also found that sports participation and daily activity were both associated with a decreased likelihood of obesity (OR 0.24, 95% CI 0.078-0.73 and OR 0.24, 95% CI 0.081-0.71 respectively). In summary, in our sample population, competitive sports participation was associated with a decreased risk of obesity. Competitive sports participation does not appear to be associated with an increased risk of aortic dilation in our population.

Adults with congenital heart disease (CHD) are at increased risk of stroke but high-quality population level data on stroke incidence in these patients are scant.

A retrospective whole-population Western Australian cohort of adult patients with CHD aged 18 to 64 years was created and followed from January 2000 to December 2017 using linked hospital data. Stroke incidence rates within the adult cohort with CHD were calculated and compared with the general population via direct standardization. A nested case-control design assessed predictors of ischemic and hemorrhagic stroke within the cohort. Among 7916 adults with CHD, 249 (3.1%) incident strokes occurred at a median age of 47 years; 186 (2.3%) ischemic, 33 (0.4%) hemorrhagic and 30 (0.4%) unspecified strokes. Ischemic and hemorrhagic stroke incidence was, respectively, 9 and 3 times higher in adults with CHD than the general population. Absolute risk was low with annual rates of 0.26% (ischemic) and 0.05% (hemorrhagic). Highest rates were observed in adults with shunt and left-sided lesions. Predictors of ischemic stroke in adults with CHD included recent cardiac surgery, left-sided valve repair/replacements, shunt lesions, and traditional risk factors (hypertension, infective endocarditis, peripheral vascular disease, and tobacco use). Mental health disorders and increasing Charlson's comorbidity scores were strongly associated with higher risk of ischemic and hemorrhagic stroke. The CHA2DS2VASc score was associated with ischemic stroke incidence.

This study provides the first population-based stroke incidence estimates for adults with CHD in Australia, showing elevated stroke risk across different CHD lesions. It highlights the potential clinical importance of managing comorbidities, especially mental health.

Congenital heart diseases (CHD) with abnormal turbulent blood flow are associated with the highest risk of infective endocarditis (IE). Despite advancement in diagnostics and treatment, the mortality rate of IE remains high due the life-threatening complications. Our study aims to assess the incidence and mortality rates of IE and predictive factors for mortality among adults CHD (ACHD).

A systematic literature search was conducted on PubMed, SCOPUS, and Ovid SP to retrieve relevant studies. The pooled estimates and predictors of mortality were calculated using the random-effects generic inverse variance method using R programming.

12 studies involving 3738 ACHD patients were included in this meta-analysis. The overall incidence of IE in ACHD was 1.26 per 1000 patient-years (95% CI 0.55-1.96). 60% (95% CI 46-72%) of patients had surgical management for IE. The mortality rate of IE was 9% (95% CI 7-12%). The predictors of mortality were conservative management (OR: 5.07, 95% CI: 4.63-5.57), renal dysfunction (OR: 4.15, 95% CI: 2.92-5.88), cerebral complications (OR: 3.59, 95% CI: 1.78-7.23), abscesses/valve complications (OR: 2.67, 95% CI: 1.71-4.16), Staphylococcus aureus infection (OR: 2.32, 95% CI: 1.33-4.06), emboli (OR: 2.03, 95% CI: 1.47-2.79), body mass index (OR: 1.10, 95% CI: 1.01-1.21), age (OR: 1.02, 95% CI: 1.00-1.04), and previous IE (OR: 1.02, 95% CI: 1.00-1.04).

The mortality rate of IE in ACHD is low. However, conservative management is associated with the highest risk of mortality.

Analyzing heart sound signals presents a novel approach for early diagnosis of pediatric congenital heart disease. The existing segmentation algorithms have limitations in accurately distinguishing the first (S1) and second (S2) heart sounds, limiting the diagnostic utility of cardiac cycle data for pediatric pathology assessment. This study proposes a time bidirectional long short-term memory network (TBLSTM) based on multi-scale analysis to segment pediatric heart sound signals according to different cardiac cycles. Mel frequency cepstral coefficients and dynamic characteristics of the heart sound fragments were extracted and input into random forest for multi-classification of congenital heart disease. The segmentation model achieved an overall F1 score of 94.15% on the verification set, with specific F1 scores of 90.25% for S1 and 86.04% for S2. In a situation where the number of cardiac cycles in the heart sound fragments was set to six, the results for multi-classification achieved stabilization. The performance metrics for this configuration were as follows: accuracy of 94.43%, sensitivity of 95.58%, and an F1 score of 94.51%. Furthermore, the segmentation model demonstrates robustness in accurately segmenting pediatric heart sound signals across different heart rates and in the presence of noise. Notably, the number of cardiac cycles in heart sound fragments directly impacts the multi-classification of these heart sound signals.

Adults with congenital heart disease (ACHD) constitute an ever-growing patient population characterized by high risks for cardiovascular- and mental disorders. Personality disorders (PDs) are associated with adverse physical and mental health. Studies assessing PD prevalence in ACHD are lacking.

Personality disorder point prevalence was assessed in 210 ACHD by Structured Clinical Interview for Axis-II Personality Disorders (SCID-II) and compared to meta-analytical data from the general population (GP). Depression and anxiety were measured by self-report (Hospital Anxiety and Depression Scale, HADS) and clinician rating (Montgomery-Åsberg depression rating scale, MADRS). Childhood maltreatment was assessed with the Childhood Trauma Questionnaire and quality-of-life (QOL) with the World Health Organization QOL Scale. PD prevalence was markedly higher in ACHD compared to GP (28.1 vs. 7.7%). Particularly borderline (4.8 vs. 0.9%) and cluster C (i.e. anxious or fearful; 17.1 vs. 3.0%) PDs were overrepresented. PD diagnosis was associated with a surgery age ≤12 years (χ²(1) = 7.861, ϕ = 0.195, P = 0.005) and higher childhood trauma levels (U = 2583.5, Z = -3.585, P < 0.001). ACHD with PD reported higher anxiety (HADS-A: U = 2116.0, Z = -5.723, P < 0.001) and depression (HADS-D: U = 2254.5, Z = -5.392, P < 0.001; MADRS: U = 2645.0, Z = -4.554, P < 0.001) levels and lower QOL (U = 2538.5, Z = -4.723, P < 0.001).

Personality disorders, particularly borderline- and cluster C, are significantly more frequent in ACHD compared to GP and associated with depression, anxiety, and decreased QOL. Data from the GP suggest an association with adverse cardiometabolic and mental health. To ensure guideline-based treatment, clinicians should be aware of the increased PD risk in ACHD.

Adolescents with complex congenital heart disease (CHD) are at risk of experiencing complications later in life. The purpose of this study was to develop an online health management program for adolescents with complex CHD and to evaluate its effects on self-efficacy, health behavior, and health-related quality of life. A randomized controlled trial design was used. A total of 29 adolescents with complex CHD were divided into an experimental group of 15 and a control group of 14. Participants in the intervention group took part in the 4-week online health management program (weekly online group sessions, 1:1 phone coaching, dietary diary feedback, and provision of health information) developed based on self-efficacy theory, while those in the control group received standard medical follow-up. Data were collected from August 2021 to March 2022 using a questionnaire-including the Korean Self-Rated Abilities for Health Practices: Health Self-Efficacy Measure (K-SRAHP) and Pediatric Cardiac Quality of Life Inventory (PCQLI)-and an ActiGraph accelerometer to track physical activity and sleep. The intervention group showed significant improvements in health self-efficacy (p = 0.003), psychosocial impact (p = 0.013), daily step counts (p = 0.011), and moderate to vigorous-intensity physical activity (p = 0.027). Additionally, a decrease in weekend leisure time sedentary behavior (p = 0.035) was observed. However, there were no significant differences in sleep behavior between two groups. The online health management program significantly enhanced self-efficacy, health behavior, and psychosocial impact in adolescents with complex CHD. These findings will inform the development of policies for transitional medical care tailored to adolescents with complex CHD.

The prenatal diagnosis of fetal heart disease potentially influences parental decision-making regarding pregnancy termination. Existing literature indicates that the severity, whether in complexity or lethality, significantly influences parental decisions concerning abortion. However, questions remain as to how fetal heart disease severity impacts parental decisions, given recent advancements in postsurgical outcomes. Therefore, we investigated risk factors associated with parents' decision-making regarding abortion following a prenatal diagnosis of fetal heart disease. Our analysis included 73 (terminated: n = 37; continued: n = 36) pregnancies with a fetal heart disease diagnosed before 22 weeks of gestation. Increased gestational age at diagnosis reduced the likelihood of parents' decision on termination (Model 1: adjusted odds ratio, 0.94; 95% confidence interval 0.89-0.99; Model 2: 0.95 0.90-0.997). Critical disease (5.25; 1.09-25.19) and concurrent extracardiac or genetic abnormalities (Model 1: 4.19, 1.21-14.53; Model 2: 5.47, 1.50-19.96) increased the likelihood of choosing abortion. Notably, complex disease did not significantly influence parental decisions (0.56; 0.14-2.20). These results suggest that parental decision-making regarding abortion may be influenced by earlier gestational age at diagnosis, the lethality of heart disease, and extracardiac or genetic abnormalities, but not its complexity if prenatal diagnosis and parental counseling are provided at a cardiovascular-specialized facility.

Cathepsin L (CTSL) has been implicated in aging and age-related diseases, such as cardiovascular diseases, specifically atherosclerosis. However, the underlying mechanism(s) is not well documented. Recently, we demonstrated a role of CUT-like homeobox 1 (CUX1) in regulating the p16INK4a-dependent cellular senescence in human endothelial cells (ECs) and vascular smooth muscle cells (VSMCs) via its binding to an atherosclerosis-associated functional SNP (fSNP) rs1537371 on the CDKN2A/B locus. In this study, to determine if CTSL, which was reported to proteolytically activate CUX1, regulates cellular senescence via CUX1, we measured the expression of CTSL, together with CUX1 and p16INK4a, in human ECs and VSMCs undergoing senescence. We discovered that CUX1 is not a substrate that is cleaved by CTSL. Instead, CTSL is an upstream regulator that activates CUX1 transcription indirectly in a process that requires the proteolytic activity of CTSL. Our findings suggest that there is a transcription factor in between CTSL and CUX1, and cleavage of this factor by CTSL can activate CUX1 transcription, inducing endothelial senescence. Thus, our findings provide new insights into the signal transduction pathway that leads to atherosclerosis-associated cellular senescence.

Patients with heart defects are at risk of developing cardiovascular disease. Our objective was to determine if non-cardiac birth defects are associated with the risk of cardiovascular hospitalisation.

We conducted a longitudinal cohort study of 1 451 409 parous women in Quebec, Canada. We compared patients with cardiac and non-cardiac birth defects of the urinary, central nervous and other systems against patients without defects between 1989 and 2022. The main outcome was hospitalisation for coronary artery disease, ischaemic stroke and other cardiovascular outcomes during 33 years of follow-up. We computed cardiovascular hospitalisation rates and used Cox proportional hazards regression models to measure the association (HR; 95% CI) between non-cardiac defects and later risk of cardiovascular hospitalisation, adjusted for patient characteristics.

Women with any birth defect had a higher rate of cardiovascular hospitalisation than women without defects (7.0 vs 3.3 per 1000 person-years). Non-cardiac defects overall were associated with 1.61 times the risk of cardiovascular hospitalisation over time, compared with no defect (95% CI 1.56 to 1.66). Isolated urinary (HR 3.93, 95% CI 3.65 to 4.23), central nervous system (HR 3.33, 95% CI 2.94 to 3.76) and digestive defects (HR 2.39, 95% CI 2.16 to 2.65) were associated with the greatest risk of cardiovascular hospitalisation. These anomalies were associated with cardiovascular hospitalisation whether they presented alone or clustered with other defects. Nevertheless, heart defects were associated with the greatest risk of cardiovascular hospitalisation (HR 10.30, 95% CI 9.86 to 10.75).

The findings suggest that both cardiac and non-cardiac birth defects are associated with an increased risk of developing cardiovascular disease among parous women.

Turner syndrome (TS) affects 50 per 100 000 females. TS affects multiple organs through all stages of life, necessitating multidisciplinary care. This guideline extends previous ones and includes important new advances, within diagnostics and genetics, estrogen treatment, fertility, co-morbidities, and neurocognition and neuropsychology. Exploratory meetings were held in 2021 in Europe and United States culminating with a consensus meeting in Aarhus, Denmark in June 2023. Prior to this, eight groups addressed important areas in TS care: (1) diagnosis and genetics, (2) growth, (3) puberty and estrogen treatment, (4) cardiovascular health, (5) transition, (6) fertility assessment, monitoring, and counselling, (7) health surveillance for comorbidities throughout the lifespan, and (8) neurocognition and its implications for mental health and well-being. Each group produced proposals for the present guidelines, which were meticulously discussed by the entire group. Four pertinent questions were submitted for formal GRADE (Grading of Recommendations, Assessment, Development and Evaluation) evaluation with systematic review of the literature. The guidelines project was initiated by the European Society for Endocrinology and the Pediatric Endocrine Society, in collaboration with members from the European Society for Pediatric Endocrinology, the European Society of Human Reproduction and Embryology, the European Reference Network on Rare Endocrine Conditions, the Society for Endocrinology, and the European Society of Cardiology, Japanese Society for Pediatric Endocrinology, Australia and New Zealand Society for Pediatric Endocrinology and Diabetes, Latin American Society for Pediatric Endocrinology, Arab Society for Pediatric Endocrinology and Diabetes, and the Asia Pacific Pediatric Endocrine Society. Advocacy groups appointed representatives for pre-meeting discussions and the consensus meeting.

Differences in surveillance methods have resulted in significant variability in referral volumes and referral completion rates across cardiac neurodevelopmental programs, with frequent barriers to referral completion including high no-show rates, lack of education, and inaccessibility for underrepresented populations. The purpose of this study was to describe implementation of a standardized surveillance program and investigate impact on referral volume and completion over a two-year period. Between fiscal years 2021 and 2022, a surveillance program was implemented which standardized assessment of neurodevelopmental risk via a checklist as well as family education and referral procedures. All patients referred to the cardiac neurodevelopmental program during these two fiscal years were included in the analysis, and patient referrals were categorized as complete or incomplete (due to physician-related or patient-related factors). Referral completion rates between fiscal years were compared using two sample Z test of proportions, while associations between referral completion and demographic/anatomical variables were completed using chi-square tests of independence. Implementation of the formal surveillance program resulted in a 66.7% increase in referral volume. Proportions of both incomplete referrals (z = 2.00, p < 0.05) and incomplete referrals due to physician-related factors (z = 4.34, p < 0.01) were significantly lower after implementation. A significant association was found after implementation between referral completion and race/ethnicity (x2 = 14.08, p < 0.01) due to a significantly high proportion of completed referrals for patients identifying as Hispanic/Latino within the overall distribution of patients. This study describes the successful implementation of a standardized surveillance program, including improvements to referral volume and completion rate. Findings also support implementation of methods that emphasize physician surveillance methods and improve accessibility for historically marginalized groups at greatest risk for disparities in access and quality of care.

Loss-of-function (LOF) variants of the angiopoietin-like 3 (ANGPTL3) gene are reported to be associated with serum triglyceride (TG) and high-density lipoprotein cholesterol (HDL-C) concentrations and thereby affect the risk of cardiovascular disease (CVD).

In the present study, we examined the association of rs10789117 in the ANGPTL 3 gene locus and the risk of CVD in the group of people who were part of the Mashhad-Stroke and Heart-Atherosclerotic-Disorders (MASHAD) cohort.

One thousand and two healthy individuals enrolled in this study of whom 849 subjects were healthy and 153 subjects developed CVD outcomes after 6 years of follow-up. After a 12-h overnight fasting, 20 mL of blood samples were collected for the measurement of fasting blood glucose and lipid profile. DNA was extracted, and the Tetra-ARMS PCR (amplification refractory mutation system) was used for genotyping of rs10789117 in the ANGPTL3 gene. The genotype frequencies of the variant of rs10789117 in the ANGPTL3 gene were estimated using χ2 tests. Eventually, the statistical analysis was done by SPSS version 20.

Individuals with AC/CC genotypes (rs10789117) were found to have to greater risk of CVD events compared to AA genotype (OR = 1.43, 95%CI = 1.01-2.02, p = 0.041). There was a 1.3-fold increase in cardiovascular events in individuals carrying the C allele of rs10789117 variant compared to non-carriers (OR = 1.32, 95%CI = 1.06-1.72, p value = 0.038). There were significant differences between different genotypes for serum triglyceride levels within the control group, but this difference was not significant in the group with CVD. Moreover, there was a significant association between CC genotype and CVD risk in the individuals with a normal serum HDL-C.

We have found that a rs10789117 C>A in ANGPTL3 gene polymorphism was associated with incident CVD events, and this may be of value as a risk stratification biomarker in CVD in the Iranian population.

Hemodynamics is the eternal theme of the circulatory system. Abnormal hemodynamics and cardiac and pulmonary development intertwine to form the most important features of children with congenital heart diseases (CHDs), thus determining these children's long-term quality of life. Here, we review the varieties of hemodynamic abnormalities that exist in children with CHDs, the recently developed neonatal rodent models of CHDs, and the inspirations these models have brought us in the areas of cardiomyocyte proliferation and maturation, as well as in alveolar development. Furthermore, current limitations, future directions, and clinical decision making based on these inspirations are highlighted. Understanding how CHD-associated hemodynamic scenarios shape postnatal heart and lung development may provide a novel path to improving the long-term quality of life of children with CHDs, transplantation of stem cell-derived cardiomyocytes, and cardiac regeneration.

Given the pervasive issues of obesity and diabetes both in Puerto Rico and the broader United States, there is a compelling need to investigate the intricate interplay among BMI, pregestational, and gestational maternal diabetes, and their potential impact on the occurrence of congenital heart defects (CHD) during neonatal development.

Using the comprehensive System of Vigilance and Surveillance of Congenital Defects in Puerto Rico, we conducted a focused analysis on neonates diagnosed with CHD between 2016 and 2020. Our assessment encompassed a range of variables, including maternal age, gestational age, BMI, pregestational diabetes, gestational diabetes, hypertension, history of abortion, and presence of preeclampsia.

A cohort of 673 patients was included in our study. The average maternal age was 26 years, within a range of 22 to 32 years. The mean gestational age measured 39 weeks, with a median span of 38 to 39 weeks. Of the 673 patients, 274 (41%) mothers gave birth to neonates diagnosed with CHD. Within this group, 22 cases were linked to pre-gestational diabetes, while 202 were not; 20 instances were associated with gestational diabetes, compared to 200 without; and 148 cases exhibited an overweight or obese BMI, whereas 126 displayed a normal BMI.

We identified a statistically significant correlation between pre-gestational diabetes mellitus and the occurrence of CHD. However, our analysis did not show a statistically significant association between maternal BMI and the likelihood of CHD. These results may aid in developing effective strategies to prevent and manage CHD in neonates.

Highlights HOTAIR, a long noncoding RNA, plays a role in the regulation of proteins involved in the pathogenesis of cardiovascular disease. Furthermore, it has been identified as a biomarker of this type of disease. Several factors and cells contribute to atherosclerosis, a progressive disease. However, the prognosis of HOTAIR in this disease varies depending on the path in which it plays a role. For this condition, there is no single prognosis to consider.

eNOS (NOS3) is the enzyme that generates nitric oxide, a signalling molecule and regulator of vascular tone. Loss of eNOS function is associated with increased susceptibility to atherosclerosis, hypertension, thrombosis and stroke. Aortopathy and cardiac hypertrophy have also been found in eNOS null mice, but their aetiology is unclear. We evaluated eNOS nulls before and around birth for cardiac defects, revealing severe abnormalities in the ventricular myocardium and pharyngeal arch arteries. Moreover, in the aortic arch, there were fewer baroreceptors, which sense changes in blood pressure. Adult eNOS null survivors showed evidence of cardiac hypertrophy, aortopathy and cartilaginous metaplasia in the periductal region of the aortic arch. Notch1 and neuregulin were dysregulated in the forming pharyngeal arch arteries and ventricles, suggesting that these pathways may be relevant to the defects observed. Dysregulation of eNOS leads to embryonic and perinatal death, suggesting mutations in eNOS are candidates for causing congenital heart defects in humans. Surviving eNOS mutants have a deficiency of baroreceptors that likely contributes to high blood pressure and may have relevance to human patients who suffer from hypertension associated with aortic arch abnormalities.