Congenital Heart Disease Patients Research Articles

Self-gated free-running 5D whole-heart MRI using blind source separation for automated cardiac motion extraction.

To compare two blind source separation (BSS) techniques to principal component analysis and the electrocardiogram for the identification of cardiac triggers in self-gated free-running 5D whole-heart MRI. To ascertain the precision and robustness of the techniques, they were compared in three different noise and contrast regimes. The repeated superior-inferior (SI) projections of a 3D radial trajectory were used to extract the physiological signals in three cardiac MRI cohorts: (1) 9 healthy volunteers without contrast agent injection at 1.5T, (2) 30 ferumoxytol-injected congenital heart disease patients at 1.5T, and (3) 12 gadobutrol-injected patients with suspected coronary artery disease at 3T. Self-gated cardiac triggers were extracted with the three algorithms (principal component analysis [PCA], second-order blind identification [SOBI], and independent component analysis [ICA]) and the difference with the electrocardiogram triggers was calculated. PCA and SOBI triggers were retained for image reconstruction. The image sharpness was ascertained on whole-heart 5D images obtained with PCA and SOBI and compared among the three cohorts. SOBI resulted in smaller trigger differences in Cohorts 1 and 3 compared to PCA (p < 0.01) and in all cohorts compared to ICA (p < 0.04). In Cohorts 1 and 3, the sharpness increased significantly in the reconstructed images when using SOBI instead of PCA (p < 0.03), but not in Cohort 2 (p = 0.4). We have shown that SOBI results in more precisely extracted self-gated triggers than PCA and ICA. The validation across three diverse cohorts demonstrates the robustness of the method against acquisition variability.

Electrocardiographic correlates of ventricular arrhythmias in repaired congenital heart disease

BackgroundSudden cardiac death (SCD) is a major cause of mortality in congenital heart disease (CHD). Ventricular arrhythmias (VAs) are responsible for 80% of SCD. However, the clinical characteristics of patients with CHD and VAs are not fully understood. ObjectiveTo evaluate clinical and electrocardiographic characteristics of patients with CHD based on the presence or absence of VAs. MethodsWe identified 28 CHD patients with VAs (males, n = 15; 35.9 ± 16.5 years). Two patients with channelopathies were excluded from the analysis. ResultsThe most common diagnoses in patients with VAs were a transposition of the great arteries (n = 8, 30.8%), followed by tetralogy of Fallot (n = 7, 26.9%). Compared to patients without VA (n=43), those with VAs had a longer QRS (160.6 ± 52.9ms versus 133.4 ± 29.3ms; P = 0.004), a higher prevalence of fragmented QRS (65.4% versus 37.2%; P = 0.022) and more epsilon wave (23.1% versus 2.3%; P = 0.005). Multivariable analysis showed that QRS>180ms (odd ratio [OR], 22.23; 95% confidence interval [CI] 2.40–206.53) and epsilon wave (OR 14.33; 95% CI, 1.47–139.58) were significantly associated with VAs. During a median follow-up duration of 5.4 years, five patients (19.2%) received appropriate ICD therapy, and three patients (11.5%) died of heart failure. ConclusionThe assessment of QRS duration and the presence of fQRS and epsilon waves in patients with CHD could improve risk prediction for the development of VAs. These ECG features could assist in clinical decision-making and might consequently reduce mortality.

Outcomes in adult congenital heart disease patients with Down syndrome undergoing cardiac surgery.

BACKGROUNDAs the life expectancy of patients with Down syndrome (DS) improves, the number of older DS patients requiring cardiac surgery for congenital heart disease will increase. Perioperative risk factors and outcomes in these patients are unknown. METHODSIn a multicenter retrospective study, teenage and adult DS patients undergoing cardiac surgery between 2008-2018 were matched by age and surgical procedure with non-DS patients. Demographic, medical, and surgical characteristics were compared. Outcome measures were length of stay (LOS), duration of mechanical ventilation, need for non-invasive positive pressure ventilation (NIPPV) and reintubation, additional cardiac interventions, postoperative infections, and early postoperative mortality. Risk factors for extended hospital LOS (>10 days) were explored using multivariable logistic regression. RESULTSWe compared 121 DS patients to 121 non-DS patients. DS patients had a longer median LOS (7 vs. 5 days, p<0.001), longer duration of mechanical ventilation (12.5 vs. 6.7 hours, p<0.001), greater need for NIPPV or reintubation (26% vs. 4%, p<0.001), and higher likelihood of postoperative infections (10% vs. 2%, p=0.035). There was no early mortality. Pre-operative risk factors for extended LOS for DS patients included pulmonary medication use (OR 4.0, p=0.046), history of immunodeficiency (OR 10.4, p=0.004), or ≥moderate tricuspid regurgitation (OR 12.7, p<0.001). CONCLUSIONSTeenage and adult DS patients undergoing congenital cardiac surgery had a longer hospital LOS and more postoperative respiratory and infection complications compared to non-DS patients without increased mortality. Cardiac surgery can be performed safely in older DS patients. Management of pulmonary disease, immunodeficiency, and tricuspid regurgitation may mitigate risk.

A new strategy for monitoring of direct oral anticoagulants in patients with cyanotic and complex congenital heart disease

BackgroundPatients with congenital heart disease (CHD) often require an oral anticoagulation. Vitamin K antagonists (VKA) are the standard treatment, however, an increased hematocrit in patients with secondary erythrocytosis due to cyanosis complicates the correct measurement of the international normalized ratio. Direct oral anticoagulants (DOAC) could be an alternative, but data on their efficacy and safety in complex and cyanotic CHD patients are scarce. This study proposes a new strategy of DOAC monitoring in these patients using D-dimers and DOAC trough levels. MethodsThis is a retrospective study including cyanotic and complex CHD patients requiring oral anticoagulation. Clinical, cardiac imaging and laboratory data were collected before and after start of DOAC. The new monitoring strategy consists of determination of D-dimers and DOAC trough levels at 1–4 weeks, 1–6 months, 6–12 months, >1 year after start of DOAC. ResultsEleven patients were included. For 10 patients D-dimers and DOAC trough levels were in target range. In one patient, D-dimers increased continuously after start of DOAC despite dose escalation, suggesting insufficient DOAC efficacy and finally requiring a switch to VKA. D-dimers subsequently decreased under VKA to the therapeutic range. In three patients, one thromboembolic and two minor bleeding complications occurred. No major complications were observed. ConclusionsWe propose a new strategy of monitoring of oral anticoagulation with DOAC and report its implementation in clinical routine. Highlighting the importance of pharmacokinetic and -dynamic monitoring, this strategy could improve safety and efficacy of DOAC in cyanotic and complex CHD which, however, requires a prospective validation.

Olfactory Bulb Volume and Asymmetry as Predictors of Executive Dysfunction in Adolescents with Congenital Heart Disease.

Common sequelae for patients with congenital heart disease (CHD) are neurodevelopmental disabilities including executive function, attention, and socio-emotional deficits. Although these are common diagnoses for patients with CHD, limited research has investigated the mechanistic underpinnings of these findings. Our previous research examined the association between abnormal respiratory ciliary motion and brain abnormalities in infants with CHD. Results suggested that abnormal ciliary motion correlated to a spectrum of subtle dysplasia, notably within the olfactory bulb (OB)1. Our current study investigates whether OB anomalies predict neurodevelopmental outcomes for pediatric patients with CHD. We hypothesize that adolescents with CHD who exhibit aberrant morphological measurements in the OB are more likely to suffer from executive functional deficits. A prospective, observational study of 54 CHD and 75 healthy subjects, ages 6-25 years old, was completed under the supervision of a senior pediatric neuroradiologist. T2 3D Space and T2 Blade 2MM MRI images were manually segmented to extract volumetric bilateral regions of the OB and cerebrospinal fluid (CSF) using ITK-SNAP. Imaging metrics were correlated to OB asymmetry, CSF to OB ratio, total CSF volume, total OB volume, and independent left and right CSF and OB volumes. Linear regression was used to evaluate MRI morphologic measurements with co-variates: CHD status, sex, MRI age, and segmenter. Executive function was determined by the Behavioral Rating Inventory of Executive Function (BRIEF) Parent Report and Delis-Kaplan Executive Function System (D-KEFS) for subjects ages 6-16. Cognition and olfactory function were measured with the NIH Toolbox Cognitive Battery and Odor Identification Test, respectively. No statistically significant results were reported between cohorts for asymmetry of OB, CSF to OB ratio, total CSF volume, total OB volume, nor between independent left and right CSF and OB volumes. Increased OB volume was associated with worse outcomes on the BRIEF Parent Report (p≤0.03). Asymmetry of OB predicted poorer executive functioning as reported by parents on the BRIEF (p≤0.05). Overall, the CHD cohort demonstrated worse scores on the BRIEF Parent Report compared to controls. Across groups, no significant association was reported for olfaction function measured by the NIH Toolbox Odor Identification Test on a limited subset of participants. As survival rates for CHD improve, there is an increased risk of long-term neurodevelopmental impairments. Our findings identify adolescents who are at risk for executive dysfunction, particularly those showing increased OB volume and/or asymmetry of the OB. This is particularly concerning for the CHD population with atypical OB morphology, who also exhibit significantly poorer outcomes on the BRIEF Parent Report and face a higher overall risk. Increased OB volume and OB asymmetry are olfactory-based biomarkers that may help identify at-risk CHD patients earlier, enabling more timely intervention and support.

Factors Associated with Depressive Syndrome in Adult Congenital Heart Disease Patients at RSUP Haji Adam Malik Medan

Besides being one of the causes of death in the world, adult congenital heart disease sufferers seem to be forgotten and neglected from what is called depression and anxiety. Not much has been described about depressive psychopathology in adult congenital heart disease patients. The purpose of this study was to analyze the factors associated with depressive syndrome in congenital heart disease patients. This cross-sectional study was conducted by 97 adult congenital heart disease patients recruited sequentially, consisting of 8 independent variables and 1 dependent variable. Depression scores were assessed using the BDI-II measuring instrument. Most sexes were female, with as many as 59 subjects (60.2 %). The most marital status was 66 subjects (67.3 %). The most occupations were those who worked as many as 70 subjects (71.4 %), the most previous history of surgery/intervention were those who did not have a history of prior surgery/intervention as many as 56 subjects (57.1 %), the most comorbid diseases were those who did not have a history of comorbid diseases as many as 86 subjects (87.8 %), age with a median value of 33 (18 - 45), the median value of education for adult CHD patients was 15 (12 - 18), the median NYHA grade value of adult CHD patients is 2 (1 - 4). The characteristics of patients who are highly educated, NYHA classmates, and who have jobs should be a concern because they will be more likely to experience depressive syndrome. HIGHLIGHTS Relationship between NYHA class and depression syndrome: Patients with higher NYHA grades are prone to depression. This indicates that the more severe the heart condition, the greater the level of depression. The role of education in depression: The higher the education of heart patients, the more likely they are to develop depression. Effect of work on depression: Patients without work are more prone to depression than patients who work, demonstrating the importance of job stability for inner well-being. Use of BDI-II tool: Depression measurement is carried out using BDI-II, a screening tool that effectively measures depression. GRAPHICAL ABSTRACT

Collaborative care models in adult congenital heart disease transplant.

While multidisciplinary collaboration is a tenant of quality heart failure care and critical to the success of transplant programs, this essay challenges the temptation to shoehorn adult congenital heart disease (ACHD) patients into preexisting processes and paradigms. We explore the development of more relevant models, purposefully designed to improve ACHD transplant volumes and outcomes. Globally, the rapid acceleration of ACHD patients living with and dying from HF stands in stark contrast to their access to transplant. Inferior early outcomes after ACHD transplant remain an undeniable barrier. And yet while all large registry datasets attest to this statistic, a few centers have achieved results comparable to those in acquired heart disease. This despite increases in both ACHD candidate complexity and referrals for Fontan Circulatory Failure. Perhaps something in their approach to care delivery is key?. Alone, neither ACHD nor transplant programs can provide optimal management of HF in ACHD. A siloed approach is similarly inadequate. Building new ACHD-HF-Transplant teams, centered on the patient and supplemented by ad hoc expert partnerships, is an exciting approach that can improve outcomes, create a high-quality training environment, and in our experience, is a truly rewarding way of working together.

Resuscitation arterial waveform quantification and outcomes in pediatric bidirectional Glenn and Fontan patients.

Resuscitation with chest compressions and positive pressure ventilation in Bidirectional Glenn (BDG) or Fontan physiology may compromise passive venous return and accentuate neurologic injury. We hypothesized that arterial pressure and survival would be better in BDG than Fontan patients. Secondary analyses of the Pediatric Intensive Care Quality of CPR and Improving Outcomes from Pediatric Cardiac Arrest databases. P-values were considered significant if < 0.05. In total, 64 patients had either BDG (42/64, 66%) or Fontan (22/64, 34%) anatomy. Return of spontaneous circulation was achieved in 76% of BDG patients versus 59% of Fontan patients and survival with favorable neurologic outcome in 22/42 (52%) BDG versus 6/22 (27%) Fontan patients, p = 0.067. Twelve of 24 (50%) BDG and 2/7 (29%) Fontan patients who survived to discharge suffered new morbidity as defined by worsening Functional Status Score. More BDG patients achieved adequate DBP (≥25 mmHg for neonates and infants; ≥ 30 mmHg for children) than Fontan patients (21/23 (91%) vs. 5/11 (46%), p = 0.007). Only 27% of Fontan patients survived to hospital discharge with favorable neurologic outcome after CPR, likely driven by inadequate diastolic blood pressure during resuscitation. One half of the BDG patients who survived to hospital discharge had new neurologic morbidity. Cardiac arrest in patients with congenital heart disease (CHD) may present challenges to resuscitation based on the unique cardiovascular physiology resulting from surgical palliation. Recent resuscitation guidelines for CHD patients highlight the lack of data surrounding these special patient populations.1 Univentricular heart disease is palliated by a series of cardiac surgeries that stepwise result in passive pulmonary perfusion from the systemic venous system directly to the pulmonary vascular bed. The bidirectional Glenn (BDG) palliation directly anastomoses the superior vena cava (SVC) to the pulmonary arterial system and leaves normal inferior vena cava (IVC) venous return to the heart.2 The Fontan palliation baffles IVC flow directly to the pulmonary vascular bed which relieves cyanosis due to right to left shunting, but requires systemic ventricular preload to be directly dependent upon pulmonary vascular resistance and intrathoracic pressures.3 IMPACT STATEMENT: Hemodynamic waveforms from 2 large prospective observational studies now allow for exploration of physiology during cardiopulmonary resuscitation for unique anatomy associated with single ventricle congenital heart disease. Fewer patients with Fontan physiology (46%) achieved an adequate diastolic blood pressure (defined as ≥ 25 mmHg for neonates and infants and ≥ 30 mmHg for children) than bidirectional Glenn patients during cardiopulmonary resuscitation (91%, p = 0.007). Only 27% of Fontan patients survived to hospital discharge with favorable neurologic outcome after cardiopulmonary resuscitation. Of the bidirectional Glenn patients who survived, 50% developed a new morbidity as quantified by the Functional Status Score.

ADVANCES IN DIAGNOSIS AND TREATMENT OF CONGENITAL HEART DISEASE: A COMPREHENSIVE REVIEW

The purpose of this article is to provide a comprehensive review of recent advances in the diagnosis and treatment of congenital heart disease (CHD). CHD, which affects about 1% of live births worldwide, is still a major problem in pediatric cardiology. The most prevalent congenital cardiac defects—Ventricular Septal Defect (VSD), Tetralogy of Fallot (TOF), Coronary Artery Fistula, Coarctation of the Aorta (CoA), Aortic and Pulmonary Stenosis, Valve Insufficiency, Double Outlet Right Ventricle (DORV), Ebstein Anomaly, Transposition of the Great Arteries (TGA), Anomalous Venous Return, and Hypoplastic Left Heart Syndrome (HLHS) are all thoroughly examined in this review. The review examines current diagnostic and treatment strategies, highlighting the benefits, drawbacks, sensitivity, and specificity of several imaging modalities, including as CT, MRI, and echocardiography. It also discusses the historical evolution of treatment outcomes, emphasizing the tremendous advances in patient care and surgical procedures that have significantly mproved survival rates and quality of life for CHD patients.

Risk of cardiovascular events after influenza infection-related hospitalizations in adults with congenital heart disease: A nationwide population based study

BackgroundCardiovascular complications due to viral infection pose a significant risk in vulnerable patients such as those with congenital heart disease (CHD). Limited data exists regarding the incidence of influenza and its impact on cardiovascular outcomes among this specific patient population. MethodsA retrospective cohort study was designed using the Canadian Congenital Heart Disease (CanCHD) database - a pan-Canadian database of CHD patients with up to 35 years of follow-up. CHD patients aged 40 to 65 years with influenza virus-associated hospitalizations between 2010 and 2017 were identified and 1:1 matched with CHD patients with limb fracture hospitalizations on age and calendar time. Our primary endpoint was cardiovascular complications: heart failure, acute myocardial infarction, atrial arrhythmia, ventricular arrhythmia, heart block, myocarditis, and pericarditis. ResultsOf the 303 patients identified with incident influenza virus-associated hospitalizations, 255 were matched to 255 patients with limb fracture hospitalizations. Patients with influenza virus-related hospitalizations showed significantly higher cumulative probability of cardiovascular complications at one year (0.16 vs. 0.03) and five years (0.33 vs. 0.15) compared to patients hospitalized with bone fracture. Time-dependent hazard function modeling demonstrated a significantly higher risk of cardiovascular complications within nine months post-discharge for influenza-related hospitalizations. This association was confirmed by Cox regression model (average hazard ratio throughout follow-up: 2.48; 95% CI: 1.59 – 3.84). ConclusionsThis pan-Canadian cohort study of adults with CHD demonstrated an association between influenza virus-related hospitalization and risk of cardiovascular complications during the nine months post discharge. This data is essential in planning surveillance strategies to mitigate adverse outcomes and provides insights into interpreting complication rates of other emerging pathogens, such as COVID-19.

124: Pump Controlled Retrograde Flow Trial Off (PCRTO) in Congenital Heart Disease Patients as a Strategy for Weaning Patients Off Veno-Arterial Extracorporeal Membrane Oxygenation

124: Pump Controlled Retrograde Flow Trial Off (PCRTO) in Congenital Heart Disease Patients as a Strategy for Weaning Patients Off Veno-Arterial Extracorporeal Membrane Oxygenation

Serum Albumin and Its Influence on Immediate Outcomes in Children with Congenital Heart Disease Undergoing Cardiac Surgery

Background: Hypoalbuminemia is associated with morbidity and mortality in critically ill children and is a well-recognized predictor of general surgical risk. It frequently occurs in patients with congenital heart disease (CHD). Moreover, cardiopulmonary bypass (CPB)-induces an inflammatory response, and the overall surgical stress can affect albumin concentration greatly Objective: To estimate pre-operative, per-operative and post-operative serum albumin level and to see its influence on immediate outcomes in children with congenital heart disease undergoing cardiac surgery with cardiopulmonary bypass Methods: This cross-sectional observational study was conducted in Paediatric cardiology department, BSMMU in a view to find out the influence of pre-operative, per-operative and post-operative serum albumin level on immediate outcomes in children with congenital heart disease undergoing cardiac surgery with cardiopulmonary bypass(CPB).The study included total 48 patients of CHD who underwent CPB. Patients were selected according to inclusion and exclusion criteria. Result: Mean pre-operative serum albumin was 3.5±0.9 mg/dl whereas per-operative and post-operative serum albumin was 3.3±0.7mg/dl and 3.1±0.7 mg/dl respectively.CPB time was a bit higher in study population (98.4± 29.1min) where as other outcome parameters were within normal range. Duration of hospital stay was 12.2±3.1days. 22 patient (45.8%) developed valvular regurgitation and 6 patient (12.5%) developed pericardial effusion in post-operative echocardiography. Infection was evident by positive blood culture in 7 patients (14.8%). Pre, per and post-operative hypoalbuminaemia was associated with poor outcome after CPB. Conclusion: Pre, per and post-operative hypoalbuminaemia is a prudent indicator for speculating poor immediate outcome following CPB in children with CHD. (Bangladesh Heart Journal 2024; 39(2): 121-126

How does Regular Exercise Improve Cardiovascular Function: Congenital Heart Disease and Beyond

Major advances in the fields of paediatric cardiology and cardiac surgery over the last decades have dramatically improved the survival of patients with congenital heart disease (CHD). Thus, care for CHD patients has shifted from managing short-term survival to having the best possible outcome in terms of long-term physical health, development and well-being. In this article, with a special focus on adult CHD (ACHD) population, we address the question: How does regular exercise improve cardiovascular function? We aim to underscore that regular exercise not only offers clinically relevant physiological benefits for patients living with a CHD condition but has also a positive effect on reducing the risk of future cardiovascular events.

Implementing Patient Protection Radiation Dose Alerts for Pediatric Cardiac Catheterization Examinations

Advancements in cardiac catheterization have improved survival for pediatric congenital heart disease patients, but the associated ionizing radiation risks necessitate ethical consideration. This study presents an empirical model to establish reference air kinetic energy released per unit mass (KERMA) and air KERMA area product, also referred to as dose area product, alert levels based on pediatric patient size during diagnostic or interventional cardiac catheterization. Recognizing the significant size variations among pediatric patients, the model provides a universal application for institutions to set quality assurance programs to prevent overexposure. Developed from 3131 unique procedures, the model uses linear regression of logarithmic reference air KERMA and dose area product against the patient's lateral thickness of the thorax for various procedural categories, setting alert levels at the top 95% and 99% of patient data. This allows institutions to tailor dose alert levels to their specific pediatric populations.

Improving Reproducibility of Volumetric Evaluation Using Computed Tomography in Pediatric Patients with Congenital Heart Disease.

The volumetric data obtained from the cardiac CT scan of congenital heart disease patients is important for defining patient's status and making decision for proper management. The objective of this study is to evaluate the intra-observer, inter-observer, and interstudy reproducibility of left ventricular (LV) and right ventricular (RV) or functional single-ventricle (FSV) volume. And compared those between manual and using semi-automated segmentation tool. Total of 127 patients (56 female, 71 male; mean age 82.1months) underwent pediatric protocol cardiac CT from January 2020 to December 2022. The volumetric data including both end-systolic and -diastolic volume and calculated EF were derived from both conventional semiautomatic region growing algorithms (CM, TeraRecon, TeraRecon, Inc., San Mateo, CA, USA) and deep learning-based annotation program (DLS, Medilabel, Ingradient, Inc., Seoul, Republic of Korea) by three readers, who have different background knowledge or experience of radiology or image extraction before. The reproducibility was compared using intra- and inter-observer agreements. And the usability was measured using time for reconstruction and number of tests that were reconfigured before the reconfiguration time was reduced to less than 5min. Inter- and intra-observer agreements showed better agreements degrees in DLS than CM in all analyzers. The time used for reconstruction showed significantly shorter in DLS compared with CM. And significantly small numbers of tests before the reconfiguration is needed in DLS than CM. Deep learning-based annotation program can be more accurate way for measurement of volumetric data for congenital heart disease patients with better reproducibility than conventional method.

Randomized Control Study to Evaluate the Effect of Rajyoga Meditation on Metabolic and Psychological Correlates of Health in Patients of Surgical Repair for Congenital Heart Disease

Objectives: Congenital heart diseases (CHDs) and their operative management are a source of emotional and financial stress to the patient and family. Rajyoga meditation (RYM) is a specific art and science of meditation that encompasses but is not limited to mind-body medicine theories, inculcation of values in life, and development of life skills for complete physical, mental, and spiritual well-being. The role of RYM has never been studied in CHD patients, especially children. This study aimed to evaluate the efficacy of the RYM program on resting metabolic rate (RMR) and post-hospitalization behavior questionnaire (PHBQ) immediately after the program and after 1 and 3 months. Material and Methods: It was a single-blind, randomized controlled study. Subjects operated for CHD, in the age group of 8–19 years, were included in the study. Subjects in Group A received cardiac rehabilitation and RYM (Experimental group), whereas subjects in Group B received conventional cardiac rehabilitation (Control group). Result: At one-month follow-up, the experimental group showed a 14.18% reduction in RMR compared to baseline, whereas Group B showed 8.96% elevated RMR from baseline. Group A showed a more significant reduction in RMR at one-month follow-up from baseline as compared to group B (P &lt; 0.05). The patients who underwent RYM training had higher PHBQ (−9.0 [−15.6, −2.5], P &lt; 0.05) in comparison to the control group. Conclusion: The result of this study suggests that the inclusion of RYM along with conventionally given cardiac rehabilitation enhanced metabolic resilience with lowered resting metabolism and enhanced recovery post-surgery in children operated on for CHD. There was an improvement in the psychological adjustment and behavior of adolescents.

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

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

Anaesthetic considerations in congenital single ventricle cyanotic heart disease patients undergoing non – cardiac surgery

Congenital heart disease (CHD) is one of the most prevalent congenital disorders, with an incidence rate of 9.1 per 1000 live births. Lesions featuring single ventricle physiology make up about 20% of these cases. This condition involves an abnormal parallel circulation, leading to complications such as ventricular dysfunction, chronic hypoxia, polycythaemia, and infective endocarditis, which collectively increase mortality risk. Patients with a single functioning ventricle have limited tolerance for changes in preload, afterload, myocardial depression, and fluctuations in pulmonary and systemic vascular resistance. Factors like reduced tidal volume, atelectasis, interstitial lung water, and hypoxic pulmonary vasoconstriction contribute to a balanced circulation, but these factors can be significantly altered during induction and intubation. Here, we report the successful management of a male child with single ventricle physiology who underwent an emergency burr hole procedure and tapping of a brain abscess under general anesthesia.

Cardiomyocyte proliferation and regeneration in congenital heart disease.

Despite advances in prenatal screening and a notable decrease in mortality rates, congenital heart disease (CHD) remains the most prevalent congenital disorder in newborns globally. Current therapeutic surgical approaches face challenges due to the significant rise in complications and disabilities. Emerging cardiac regenerative therapies offer promising adjuncts for CHD treatment. One novel avenue involves investigating methods to stimulate cardiomyocyte proliferation. However, the mechanism of altered cardiomyocyte proliferation in CHD is not fully understood, and there are few feasible approaches to stimulate cardiomyocyte cell cycling for optimal healing in CHD patients. In this review, we explore recent progress in understanding genetic and epigenetic mechanisms underlying defective cardiomyocyte proliferation in CHD from development through birth. Targeting cell cycle pathways shows promise for enhancing cardiomyocyte cytokinesis, division, and regeneration to repair heart defects. Advancements in human disease modeling techniques, CRISPR-based genome and epigenome editing, and next-generation sequencing technologies will expedite the exploration of abnormal machinery governing cardiomyocyte differentiation, proliferation, and maturation across diverse genetic backgrounds of CHD. Ongoing studies on screening drugs that regulate cell cycling are poised to translate this nascent technology of enhancing cardiomyocyte proliferation into a new therapeutic paradigm for CHD surgical interventions.

Pharmacological management of heart failure in adults with congenital heart disease.

Congenital heart disease (CHD) is the most common global congenital defect affecting over 2.4 million individuals in the United States. Ongoing medical and surgical advancements have improved the survival of children with CHD leading to a shift where, as of 2010, adults constitute two-thirds of the CHD patient population. The increasing number and aging of adult congenital heart disease (ACHD) patients present a clinical challenge due to heightened complexity, morbidity, and mortality. Studies indicate that 1 in 13 ACHD patients will develop heart failure (HF) in their lifetime. ACHD-HF patients experience more frequent emergency department visits, higher hospitalization rates, longer hospital stays, and higher mortality compared to non-ACHD patients with heart failure (non-ACHD-HF). Despite HF being the leading cause of death in ACHD patients, there is a notable gap inevidence regarding treatment. While guideline-directed medical therapy (GDMT) has been extensively studied in non-ACHD-HF, research specific to ACHD-HF individuals is limited. This article aims to comprehensively review available literature addressing the pharmacological treatment of ACHD-HF.