Common Congenital Heart Defect Research Articles

Bicuspid Aortic Valve Function and Aortopathy on Presentation and Progression in Children: Does Sex Difference Have Any Implications?

Bicuspid aortic valve (BAV) is the most common congenital heart defect. It can be accompanied by aortic regurgitation or stenosis with aortopathies. Studies in adults showed a sex difference, but there are limited number of reports in the pediatric population. To evaluate the difference in bicuspid aortic valve morphology and functionality between sexes, and the presence and progression of aortopathies, a retrospective chart review study was performed at a tertiary referral care center in the Midwest. In our study, we analyzed a cohort of 476 pediatric patients diagnosed with BAV who presented between January 2007 and February 2018. During the follow-up period spanning 2 to 10years, male patients (n = 314, 66%) had larger aortic valve annulus (AVA) and sinus of Valsalva (SOV) at the time of initial presentation with more likelihood for progression. In the subgroup analysis, the larger SOV in males was observed in isolated BAV patients without genetic syndromes or cardiac malformations, and there were no significant differences between both sexes in the ascending aorta dimension, valve functionality, valve morphology, and the need for intervention in any of the studied groups. As such, these findings may alter the follow-up focus and frequency for patients with BAV, particularly before adulthood, and warrant further studies.

Rationale and design of the SPREAD study: Sport Practice and its Effects on Aortic Size and Valve Function in Bicuspid Aortic Valve Disease.

The bicuspid aortic valve (BAV) is the most common congenital heart defect among adults, often leading to severe valve dysfunction and aortic complications. Despite its clinical significance, uncertainties persist regarding the impact of sports participation on the natural course of BAV disease. The SPREAD (Sport PRactice and its Effects on Bicuspid Aortic valve Disease) study is a multicenter and multinational project designed to investigate this relationship. This paper outlines the study's design, and objectives. The study is divided into two phases; phase one involves a cross-sectional analysis comparing aortic dimensions and valve function among competitive athletes with BAV, athletes with tricuspid aortic valves (TAV), and sedentary individuals with BAV. The second phase is a prospective, longitudinal follow-up aiming to evaluate the impact of regular sports training on disease progression. The SPREAD study seeks to provide evidence-based insights into the effects of sports participation on BAV disease progression, guiding clinical decision-making regarding sports eligibility and risk stratification for individuals with BAV.

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

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

Late Presentation of Coarctation of the Aorta in an 11-Year-Old Male Child: A Case Study

Introduction: Coarctation of the aorta is a condition characterized by a narrowed segment of the aorta due to thickening of the artery wall. This case study highlights the late diagnosis of coarctation of the aorta in an 11-year-old male child who presented with symptoms initially suggestive of a respiratory infection. Case study: An 11-year-old male presented to the outpatient department with chief complaints of fever, cough, and poor appetite. He developed two episodes of epistaxis and hypertension with soft systolic murmur. Echocardiography showed severe coarctation of the aorta. Discussion: Coarctation of the aorta is a relatively common congenital heart defect that can remain asymptomatic until later in childhood or adulthood. It is the seventh most common type of CHD. The delay in the diagnosis of coarctation of the aorta underscores the challenges of recognizing cardiac anomalies in pediatric patients presenting with nonspecific complaints. Conclusion: Healthcare providers must remain vigilant and thorough in their assessment to prevent late diagnoses and associated complications in pediatric patients.

A 20–YEAR FOLLOW–UP OF SUCCESSFUL SURGICAL MANAGEMENT OF DOUBLE–OUTLET RIGHT VENTRICLE WITH PULMONARY STENOSIS: A CASE REPORT

Abstract A 25–year–old man, suffering from worsening exertional dyspnea for 4 months, was referred to our Cardiology Unit. The patient was previously diagnosed with a late diagnosis of double outlet right ventricle (DORV), as well as pulmonary stenosis, VSD, and right–sided aortic arch for which he underwent a first surgical procedure around the age of 2 involving an intersternal anastomosis through a left lateral thoracotomy approach. A second intervention took place 2 years later for a radical correction of the anomaly through a median sternotomy. The patient had sporadic follow–up since then. A baseline ECG was performed, showing evidence of sinus rhythm, normal AV with a bifid P wave in lead II, slight RAD, incomplete RBBB, and asymmetric negative T waves from V1 to V3 and in aVL, and biphasic T waves in V4–V5. We performed an echocardiogram which showed: a dilated RA, a normal–sized LA, an apparently intact interatrial septum without evident shunts; a normal sized LV; EF 60%; a moderately dilated, hypertrophic and hypertrabeculated RV; FAC 33%; normal aortic flow; a minimal MR; a massive residual pulmonary insufficiency; a moderate TR; a dilatated pulmonary trunk; a normal–sized and collapsible IVC upon inspiration; PAPs of 70 mmHg; no pericardial effusion. A maximal exercise stress test appeared to be normal throughout. However, due to the severe pulmonary hypertension he was referred to our PH centre. While these patients are commonly affected by residual early or late left ventricular outflow tract obstruction, fortunately our patient was not. DORV is a relatively common congenital heart defect characterized by an abnormal connection between the ventricles and arteries, in which both the aorta and the pulmonary trunk are connected completely or predominantly to the right ventricle. The anatomical spectrum of this anomaly is quite large, and it can be associated with the presence of a VSD that often extends towards one or both of the arterial valves, allowing the flow of blood from the left ventricle to the aorta. An accurate diagnosis through echocardiography or CMR is essential in order to guide the surgical repair and the appropriate therapeutic approach for individuals affected by this anomaly. A successful surgical correction of DORV is essential, but it is important to be aware of the potential complications of post–operative PH (especially in patients with preoperative PH), which necessitates close surveillance and appropriate therapeutic management.

Surgical management of pseudoaneurysm after subclavian artery-to-descending aorta bypass in an adult patient with aortic coarctation

BackgroundCoarctation of the aorta is a relatively common congenital heart defect. Various operative techniques have been proposed for aortic coarctation repair, which are tailored to individual patient circumstances. However, regardless of the chosen surgical approach, some patients may develop late thoracic pseudoaneurysms. Repeated surgery with a left thoracotomy increases the risk of lung injury and bleeding due to adhesions and rich collateral blood circulation.Case presentationThe patient underwent subclavian artery descending aortic bypass surgery for coarctation of the aorta at the age of 22 years and developed a pseudoaneurysm 30 years after bypass surgery. From the available surgical options for this condition, we selected total arch replacement using a frozen elephant trunk. The outcomes were excellent.ConclusionsDepending on each patient’s circumstances, revision surgery using the frozen elephant trunk technique can be a viable option.

An unknown wide persistent ductus arteriosus debuting with atrial fibrillation in older adult: a case report

BackgroundThe persistently patent ductus arteriosus represents a well-known common congenital heart defect; it is uncommon in adult patients, and in any case, it debuts with atrial fibrillation.Case presentationA 75-year-old woman suffering from persistent ductus arteriosus (PDA) was admitted to the cardiology department because of atrial fibrillation, dyspnea and exercise intolerance. A PDA was detected on echocardiography and globally assessed through ECG-gated CT angiography.ConclusionsPatent ductus arteriosus is an uncommon clinical finding in adulthood, and atrial fibrillation, as a consequence of chronic, progressive left atrial enlargement, may be the initial symptom. We describe the ECG-gated CT angiography imaging features of unknown patent ductus arteriosus in an elderly patient who debuted with atrial fibrillation.

Ventricular arrhythmias in patients with bicuspid aortic valves.

Bicuspid aortic valves (BAV) are the most common congenital heart defects and the extent of ventricular arrhythmias (VA) in patients with BAV is unclear. The objective of this study is to describe VAs and late gadolinium enhancement cardiac magnetic resonance imaging (LGE-CMR) in patients with BAV. A total of 19 patients with BAV (18 males, age: 58 ± 13 years) were referred for VA ablation procedures. Ten patients had BAVs at the time of ablation, nine patients had prior aortic valve replacement for a BAV. All but one patient had LGE-CMR and all patients underwent programmed ventricular stimulation at the time of the ablation. Frequent PVCs were the targeted VAs in 17/19 patients and VT in 2/19 patients. Monomorphic ventricular tachycardia (VT) was inducible in 6 patients. A total of 15 VTs were inducible (2.5 ± 1.0 VTs per patient with a mean cycle length of 322 ± 83 msec). LGE was present in 13 patients. Patients with inducible VT had larger borderzone and core scar compared to non-inducible patients (7.8 ± 2.1 cm3 vs. 2.5 ± 3.1 cm3 and 5.1 ± 2.6 cm3 vs. 1.9 ± 3.0 cm3, p-value < .05 for both). PVCs and VTs were mapped to the periaortic valve area in 12 patients and 4 patients, respectively. The PVC burden was reduced from 27 ± 13 to 3 ± 6 (p < .001) and the ejection fraction improved from 49 ± 13% to 55 ± 9% (p = .005). VAs in patients with BAV often originate from the perivalvular area and patients often have LGE and inducible VT. LGE may be due to ventricular remodeling secondary to the presence of BAV and harbors the arrhythmogenic substrate for VT.

Hubungan Aktivitas Fisik, Psikologis , Dan Sosial Dengan Kualitas Hidup Penderita Atrial Septal Defect Closure Usia 19 – 45 Tahun Di Yayasan Hipertensi Paru Indonesia Tahun 2023

Atrial Septal Defect (ASD) is a common congenital heart defect in adults, often undetected early due to lack of symptoms. Patients with ASD who have undergone closure experience physical limitations and low physical activity, also face low psychological and social conditions. Therefore, they need social and emotional support. This study examined the relationship between physical, psychological, and social activities with quality of life in patients with ASD Closure at the Indonesian Pulmonary Hypertension Foundation. The cross-sectional research method involved 30 adults (19-45 years old). The results of the study with Spearman Rank and chi square showed a significant relationship between physical activity (p value 0,00 &lt; 0.05), psychological aspects (p value 0,00 &lt; 0.05), and social aspects (p value 0.00 &lt; 0.05) with quality of life. This study is expected to provide benefits for ASD closure patients in improving their quality of life

Clinical Presentation, Echocardiographic Findings, Treatment Options Available for Ventricular Septal Defect in Children: A Study in a Tertiary Care Military Hospital

Introduction: Ventricular Septal Defect (VSD) is the most common congenital heart defects. Early diagnosis, appropriate treatment and transcatheter VSD closure with newer devices in favorable cases, decrease the need for surgical interventions and mortality. Objectives: To determine the clinical presentation, echocardiographic findings and the treatment options available for VSD in Paediatric Cardiology Department, Combined Military Hospital (CMH) Dhaka. Methods: It was a cross sectional observational study carried out in the department of Paediatric Cardiology, CMH Dhaka. Forty six isolated ventricular septal defect cases were diagnosed by echocardiography. Clinical features, echocardiographic findings and treatment options of all 46 cases were observed and recorded in pre formed data sheet and statistical analysis was done in statistical software SPSS version 25. Results: Among the 46 patients of VSD, majority 20(43.48%) were in age group 0-6 months. Most of them were male 24(52%). Common presenting features were dyspnea on exertion 23(50%), cough 30(65.20%), head sweating 23(50%), and feeding problem in 34(73.91%). VSD in 27(58.6%) patients were &lt;5mm, 15(32.6%) were 5-10mm and 4(8.7%) had size &gt;10mm. Most of the VSDs were perimembranous 31(67.39%). Among the 46 cases medical management was given to 20(43.5%), device closure was done in 10(21.7%) patients and surgical interventions done in 16(34.8 %) patients. Conclusion: Most of the VSD patients presented at an earlier age some of them were undergone device closure and some require surgical interventions that were not suitable for device closure. Patients those presented lately developed pulmonary hypertension. JAFMC Bangladesh. Vol 19, No 1 (June) 2023: 22-26

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

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

Bilateral remote ischemic conditioning in children: A two-center, double-blind, randomized controlled trial in young children undergoing cardiac surgery

ObjectiveThe study objective was to determine whether adequately delivered bilateral remote ischemic preconditioning is cardioprotective in young children undergoing surgery for 2 common congenital heart defects with or without cyanosis. MethodsWe performed a prospective, double-blind, randomized controlled trial at 2 centers in the United Kingdom. Children aged 3 to 36 months undergoing tetralogy of Fallot repair or ventricular septal defect closure were randomized 1:1 to receive bilateral preconditioning or sham intervention. Participants were followed up until hospital discharge or 30 days. The primary outcome was area under the curve for high-sensitivity troponin-T in the first 24 hours after surgery, analyzed by intention-to-treat. Right atrial biopsies were obtained in selected participants. ResultsBetween October 2016 and December 2020, 120 eligible children were randomized to receive bilateral preconditioning (n = 60) or sham intervention (n = 60). The primary outcome, area under the curve for high-sensitivity troponin-T, was higher in the preconditioning group (mean: 70.0 ± 50.9 μg/L/h, n = 56) than in controls (mean: 55.6 ± 30.1 μg/L/h, n = 58) (mean difference, 13.2 μg/L/h; 95% CI, 0.5-25.8; P = .04). Subgroup analyses did not show a differential treatment effect by oxygen saturations (pinteraction = .25), but there was evidence of a differential effect by underlying defect (pinteraction = .04). Secondary outcomes and myocardial metabolism, quantified in atrial biopsies, were not different between randomized groups. ConclusionsBilateral remote ischemic preconditioning does not attenuate myocardial injury in children undergoing surgical repair for congenital heart defects, and there was evidence of potential harm in unstented tetralogy of Fallot. The routine use of remote ischemic preconditioning cannot be recommended for myocardial protection during pediatric cardiac surgery.

Congenital heart defects in Arabian horses and the prospects of genetic testing: A review.

Congenital heart defects (CHDs) can have profound and potentially life-threatening consequences on horses' health and performance capability. While CHDs are rare in the general horse population, the Arabian breed is disproportionately overrepresented and thus is widely suspected to be genetically predisposed. This review discusses the most common CHDs in Arabian horses, including ventricular septal defect (VSD), tetralogy of Fallot (TOF), patent duct arteriosus (PDA), tricuspid valve atresia (TVA) and atrial septal defect (ASD). This review also explores how future research into the genetic factors that likely underpin many CHDs can revolutionise the way these disorders are managed in Arabian horses.

Outlet Ventricular Septal Defect: A Case Report on the Importance of Multi-Window Sonographic Assessment

Congenital heart disease (CHD) is the existence of structural heart problems since the formation of the heart prebirth. There are different categories of CHD, all having their own unique frequency and severity characteristics. One type of CHD is a ventricular septal defect (VSD), more specifically outlet VSD. A VSD is the most common congenital heart defect; however, their presentation can be quite complex. Color and spectral Doppler transthoracic echocardiography (TTE) are valuable tools used in the diagnosis of VSDs. The often-challenging presentation of these defects requires sonographers to confirm their existence through the parasternal long-axis, parasternal short-axis, apical four chamber, apical three chamber, and apical five chamber scanning windows. Although VSDs are the most common congenital heart defect, their wide-ranging uniqueness and location along the interventricular septum (IVS) to assess all areas along the IVS on all exams, specifically those that demonstrate left-to-right shunting. The objective of this case report was to stress the importance of multi-window assessment during the sonographer’s interrogation of outlet VSDs, due to the potential implications on adjacent anatomy and the potential for surgical intervention.

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

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

Arrhythmic Risk and Treatment after Transcatheter Atrial Septal Defect Closure.

Atrial septal defect (ASD) represents the most common congenital heart defect identified in adulthood. Atrial and ventricular geometric remodeling due to intracardiac shunt increase the risk of arrhythmias, especially atrial fibrillation (AF). Clinical, echocardiography, electrocardiogram, and device-related predictors may be used to assess the risk of atrial arrhythmias after ASD closure. The underlying mechanisms in these patients are complex and at least in part independent of the structural remodeling secondary to hemodynamic overload. Device closure of the ASD itself and its timing impact future arrhythmia risk, as well as posing a challenge for when transseptal puncture is required. Sudden cardiac death (SCD) risk is higher than in the general population and an implantable cardioverter-defibrillator (ICD) may be indicated in selected cases.

Long-Term Effects of Child Early Surgical Ventricular Septal Defect Repair on Maternal Stress.

The ventricular septal defect (VSD) represents the most common congenital heart defect (CHD). The diagnosis of and cardiac surgery for their child's VSD are highly stressful experiences for parents; especially mothers, who are at risk of developing long-lasting stress-related symptoms. This study examined long-term alterations in maternal stress including self-reported psychological and biophysiological stress levels in a case-control design. We investigated 24 mothers of children with an isolated, surgically corrected VSD compared to non-affected controls. Maternal self-reports on psychopathology, everyday stress, parenting stress and hair cortisol concentrations (HCC) were measured during children's primary school age (6-9 years, t1) and early adolescence (10-14 years, t2). In maternal self-reports, psychopathology and stress symptoms in the VSD-group and controls were comparable at t1, whereas at t2, mothers in the VSD-group even showed a decrease in psychopathology. Maternal HCC levels in the VSD-group were significantly lower (hypocortisolism) than HCC levels of controls at t1. This effect was no longer observed at t2 reflecting an approximation of HCC levels in the VSD-group to controls' levels. This study highlights the potential for improved stress hormone balance and psychological well-being in mothers following their child's surgical VSD repair. However, the need for parent-centered interventions is discussed, particularly during peri-operative phases and in early child developmental stages.

Maternal pre-existing and gestational diabetes and the risk of bicuspid aortic valve in the offspring

Abstract Background Approximately 6% of all pregnancies in Denmark are affected by maternal pre-existing or gestational diabetes. Maternal diabetes is a well-known risk factor for congenital heart defects. Among the most common congenital heart defects is bicuspid aortic valve (BAV), which is present in 0.8% of newborns. Familial clustering of BAV is seen in 30-40%, but the heritability is not completely understood and since most cases are sporadic, a multifactorial aetiology has been proposed. The association between maternal diabetes and BAV in the offspring has been sparsely investigated previously. Purpose The purpose was to assess the prevalence of BAV in newborns born to mothers with pre-existing or gestational diabetes compared with children born to mothers without diabetes. Method Systematic, standardized transthoracic echocardiography was performed within 60 days of birth in over 25,000 newborns included in a population-based, multicentre, cohort study between 2016 and 2018. Maternal diabetes-status was collected from obstetrical records maintained by the obstetrical departments of the participating hospitals, supplemented by records from a nationwide registry covering patients contacts with private and public hospitals since 1976. Maternal diabetes was categorized as type 1, type 2, or gestational diabetes (GDM) using the ICD-10 codes DO240, DO241, and DO244, respectively. The exposed newborns were compared with newborns not exposed to maternal diabetes. Results In total, the cohort consisted of 25,553 new-borns of whom 24,707 (96.7%) were not exposed to diabetes, 648 (2.5%) were exposed to GDM, and 198 were exposed to pre-existing diabetes; 136 (0.5%) to type 1 and 62 (0.2%) to type 2 diabetes. Median gestational age was 281 days (interquartile range (IQR) 273;287), median age at examination was 11 days (IQR 7;15), and 48% were female. None of the newborns exposed to pre-existing diabetes had a BAV. Nine (1.4%) new-borns exposed to GDM, and 179 (0.7%) newborns not exposed to diabetes were found to have a BAV, corresponding to a relative risk of 1.92 (95%CI 0.99-3.73), p= 0.056. Conclusion Exposure to maternal diabetes is associated with an increased risk of congenital heart disease. In our large cohort of unselected newborns, the association between diabetes and BAV did not reach statistical significance, but the numerically observed twice higher risk of BAV in children born to women with gestational diabetes is nevertheless intriguing and deserves future attention.

Predictors of tricuspid regurgitation and right ventricular remodelling following percutaneous atrial septal defect closure

Abstract Background Atrial septal defects (ASD) are one of the most common congenital heart defects, and if left unrepaired, life expectancy is decreased due to pulmonary hypertension (pHTN), atrial arrhythmias, and heart failure. Residual right ventricular (RV) dilation or dysfunction despite ASD closure can lead to worse outcomes. Purpose There is insufficient data on predictors of poor RV remodelling following ASD closure in adults. In this study, we aimed to identify risk factors of persistent RV dilation or dysfunction despite percutaneous ASD closure. Methods Patients undergoing primary percutaneous ASD closure between 1/2010-6/2021 were followed for a year. Patients with hemodynamically insignificant or iatrogenic ASDs, pHTN and Eisenmenger syndrome were excluded. Non-linear multiphase mixed–effects cumulative logistics regression model was used to assess the trend of the individual’s degree of TR, RV dysfunction and size over time. This was further stratified by age group (≥40 and &amp;lt;40). Partial dependence plot was used to study the association between age, body surface area (BSA), degree of RV and left ventricle (LV) dysfunction pre-procedurally with the likelihood of lack of RV remodelling. The association between ASD size and the likelihood of sustained RV dysfunction following ASD closure was also studied. Results A total of 185 patients met the inclusion criteria. The median age was 41 and 63% were female. The mean follow-up time of 3.6 months (range 1 day to 4.5 years). 249 echocardiograms were retrieved. Results showed a transient worsening of TR in the first 3 months post-ASD closure, which was more pronounced in older patients (≥40) (Figure 1). A larger ASD size was associated with a higher likelihood of early moderate or greater RV dysfunction (Figure 2). All patients had some degree of RV remodelling following the procedure. Older patients (≥40) were more likely to have RV dysfunction at the time of closure. Older age, RV and LV dysfunction, and high BSA were associated with poor RV remodelling or persistent RV dilation a year after ASD closure (Figure 3). Conclusions Patients who underwent percutaneous ASD closure with at least one of the following risk factors: age greater than 40, larger ASD, ventricular dysfunction, and high BSA require closer long-term follow-up given the reduced RV remodelling. Future studies are needed to elucidate the effect of poor RV remodelling on functional capacity, arrhythmic burden, and progression of TR and long-term outcomes.

Blood and imaging biomarkers in the long-term follow-up of bicuspid aortic valve patients

Abstract Background Bicuspid aortic valve (BAV) is a common congenital heart defect. Patients with BAV are at risk for long-term complications such as arrhythmias and reinterventions. Purpose This study aimed to investigate (1) sex differences in blood and imaging biomarkers and (2) the role of blood and echocardiographic biomarkers in the long-term risk prediction of patients with BAV. Methods In this multicenter prospective observational study, all included adult BAV patients underwent venous blood sampling and transthoracic echocardiography including speckle tracking at the time of inclusion. Analyzed blood biomarkers were: RDW, creatinine, CRP, TroponinT, NT-proBNP and TGF-beta. Sex differences were analyzed at baseline. Associations between blood &amp; echocardiographic biomarkers and arrhythmia-free &amp; intervention-free survival were determined by Cox proportional hazards models. Results A total of 182 patients were included (median age 34 (Interquartile range: 23-46) years, 55.5% male). Significant differences were found in blood biomarkers at baseline between men and women. CRP, NT-proBNP and RDW were higher in women while creatinine, TroponinT and TGF-beta were higher among men (figure 1). After a median follow-up time up of 6.9 (IQR: 6.5- 9.9) years, arrhythmia-free and event-free survival rates were respectively 81.0% and 73.1%. NT-proBNP was the only blood biomarker independently associated with both arrhythmia free and intervention free survival. On echocardiography an increase in LA size, LVEDD, LV mass index and E/E’ratio were associated with arrhythmia free survival. Intervention free survival was associated with increased LA size, LV mass index, aortic valve peak velocity and the presence of moderate or severe aortic regurgitation. No associations were found with ejection fraction and global longitudinal strain (figure 2). Conclusion Significant sex-related differences were observed in blood biomarkers between men and women with BAV at baseline. NT-proBNP was the only blood biomarker associated with arrhythmia-and intervention-free survival. The strongest associations of echocardiographic markers were those indicating diastolic function and LV mass index.Sex differences in blood biomarkersForest plot