Haemodynamic contributors to pulmonary hypertension across the spectrum of adult congenital heart disease.

AIMS: Adult congenital heart disease (ACHD) includes multiple disease states that predispose to pulmonary hypertension (PH). Haemodynamically, PH depends on abnormalities in three components: pulmonary blood flow (Qp), pulmonary vascular resistance (PVR) and pulmonary venous pressure (PVP). We sought to evaluate the prevalence and prognostic impact of individual haemodynamic abnormalities in ACHD. METHODS AND RESULTS: Retrospective study of ACHD patients undergoing cardiac catheterization at Mayo Clinic between 1999 and 2022 who were followed for the combined endpoint of death/heart transplantation. Among 1005 patients, 37% had mean pulmonary artery pressure (mPAP) ≥25 mmHg with more systemic ventricular disease, cyanotic disease and shunt lesions, highest N-terminal pro-B-type natriuretic peptide and worse right heart remodelling/dysfunction. Among those with biventricular circulation, elevated PVP, PVR and mPAP were associated with prognosis, but not increased Qp >8 L/min. However, risk of death/transplant increased for PVR only at ≥3 Wood units (hazard ratio [HR] 3.00, 95% confidence interval [CI] 2.17-4.15; p < 0.0001) and for mPAP only at ≥25 mmHg (HR 3.15, 95% CI 2.17-4.58; p < 0.0001), not at current recommended lower cutpoints. Combined abnormalities in PVP and PVR were associated with worst outcome (HR 5.20, 95% CI 3.55-7.63; p < 0.0001) with intermediate risk with either abnormality (HR 2.11, 95% CI 1.46-3.04; p < 0.0001). Findings were consistent across type of biventricular ACHD. Only with the Fontan (univentricular) circulation was a lower mPAP threshold (20 mmHg) associated with adverse outcomes. CONCLUSIONS: Elevation of mPAP ≥25 mmHg in ACHD with a biventricular circulation is prognostically important regardless of disease phenotype, but milder PH of 21-25 mmHg is not associated with adverse outcome unless associated with Fontan circulation. Elevation in PVP >15 mmHg and PVR ≥3 Wood units were each individually associated with mortality with combined abnormalities associated with greatest risk. Categorizing PH in ACHD by haemodynamic mechanism (PVR, PVP or Qp) allows meaningful prognostication, and may allow more unified study of targeted therapies across heterogeneous disease states in ACHD.

Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report.

OBJECTIVES: Dihydropyrimidinase deficiency is a rare autosomal recessive disorder of the pyrimidine degradation pathway, with fewer than 40 patients published. Clinical findings are variable and some patients may remain asymptomatic. Global developmental delay and increased susceptibility to 5-fluorouracil are commonly reported. Here we present atrioventricular septal defect as a novel feature in dihydropyrimidinase deficiency. CASE PRESENTATION: A four-year-old male with global developmental delay, dysmorphic facies, autistic features and a history of seizures was diagnosed with dihydropyrimidinase deficiency based on strikingly elevated urinary dihydrouracil and dihydrothymine and a homozygous pathogenic nonsense variant in DPYS gene. He had a history of complete atrioventricular septal defect corrected surgically in infancy. CONCLUSIONS: This is the second report of congenital heart disease in dihydropyrimidinase deficiency, following a single patient with a ventricular septal defect. The rarity of the disease and the variability of the reported findings make it difficult to describe a disease-specific clinical phenotype. The mechanism of neurological and other systemic findings is unclear. Dihydropyrimidinase deficiency should be considered in patients with microcephaly, developmental delay, epilepsy and autistic traits. We suggest that congenital heart disease may also be a rare phenotypic feature.

A Rare Case of Left Main Coronary Artery Coronary Sinus Fistula in an 85-Year-Old Female.

Coronary arteriovenous fistulas (CAVFs) are congenital or acquired communications between the coronary arteries and coronary venous system, and they can also include other cardiac structures or vasculature. We discuss a case of a large fistula between the left main coronary artery and the right atrium in a geriatric patient with a history of gastrointestinal arteriovenous malformations (AVM). The occurrence of CAVFs, an uncommon cardiac irregularity, is particularly infrequent among older adults. Typically, it is discovered by chance when investigating symptoms such as shortness of breath or chest pain, where coronary angiography is necessary to determine the most effective treatment strategy. This case highlights the possible utility of evaluating CAVFs in patients with a history of gastrointestinal AVM who similarly present with clinical symptoms of high-output heart failure. Once identified, this could simplify the treatment approach and improve communication between healthcare providers to minimize the risk of harm to the patient.

Double Aortic Arch: A Comparison of Fetal CMR, Postnatal CT and Surgical Findings.

BACKGROUND: In double aortic arch (DAA) one of the arches can demonstrate atretic portions postnatally, leading to diagnostic uncertainty due to overlap with isolated right aortic arch (RAA) variants. The main objective of this study is to demonstrate the morphological evolution of different DAA phenotypes from prenatal to postnatal life using 3D fetal cardiac magnetic resonance imaging (CMR) and postnatal CT/CMR imaging. METHODS: 3D fetal CMR was undertaken in fetuses with suspected DAA over a six-year period (Jan 2016 - Jan 2022). All cases with surgical confirmation of DAA were retrospectively studied and morphology on fetal CMR was compared to postnatal CT/CMR and surgical findings. RESULTS: 32 fetuses with surgically confirmed DAA underwent fetal CMR. All demonstrated a complete DAA with left-sided arterial duct. The RAA was dominant in 30/32 (94%). Postnatal CT/CMR was undertaken at median age of 3.3months (IQR 2.0-3.9) demonstrating DAA with patency of both arches in 9/32 (28%), with 6 showing signs of coarctation of the left aortic arch (LAA). The LAA isthmus was not present on CT/CMR in 22/32(69%), the transverse arch between left carotid and left subclavian artery was not present in 1 case. CONCLUSIONS: Fetal CMR provides novel insights into perinatal evolution of DAA. The smaller LAA can develop coarctation or atresia related to postnatal constriction of the arterial duct, making diagnosis of DAA challenging with contrast-enhanced CT/CMR. This highlights the potentially important role for prenatal 3D vascular imaging and might improve intepretation of postnatal imaging.

A 24-Year-Old Male Patient With an Ostium Secundum Complex Atrial Defect Secondary to a Perforated Aneurysm With Inferior Vena Cava Agenesis.

The article describes a successful clinical outcome in the case of a 24-year-old male with a diagnosis of an ostium secundum atrial defect secondary to a perforated aneurysm associated with vena cava agenesis. During hospitalization, an echocardiogram revealed the presence of ostium secundum inter-atrial communication with a left to right shunt, a left ventricular ejection fraction (LVEF) of 60%, and mild pulmonary hypertension, measured at 40 mmHg. CT imaging showed anomalous dilation of the azygos vein (16.8 mm), associated with interruption of the vena cava in the intrahepatic and adrenal portion, continuing through the azygos system and draining into the superior vena cava. Open-heart surgery was performed with pericardium patch placement on the defect. Postoperative transthoracic echocardiography revealed a tracking of the interatrial septum, with adequate placement of the surgical patch and no evidence of residual short circuits. The postoperative recovery was favorable, and the patient was discharged five days after surgery. Outpatient monitoring at the first and third months showed no complications during physical examination and echocardiogram imaging.

Identifying novel data-driven subgroups in congenital heart disease using multi-modal measures of brain structure.

Individuals with congenital heart disease (CHD) have an increased risk of neurodevelopmental impairments. Given the hypothesized complexity linking genomics, atypical brain structure, cardiac diagnoses and their management, and neurodevelopmental outcomes, unsupervised methods may provide unique insight into neurodevelopmental variability in CHD. Using data from the Pediatric Cardiac Genomics Consortium Brain and Genes study, we identified data-driven subgroups of individuals with CHD from measures of brain structure. Using structural magnetic resonance imaging (MRI; N = 93; cortical thickness, cortical volume, and subcortical volume), we identified subgroups that differed primarily on cardiac anatomic lesion and language ability. In contrast, using diffusion MRI (N = 88; white matter connectivity strength), we identified subgroups that were characterized by differences in associations with rare genetic variants and visual-motor function. This work provides insight into the differential impacts of cardiac lesions and genomic variation on brain growth and architecture in patients with CHD, with potentially distinct effects on neurodevelopmental outcomes.

Heart failure in patients with congenital heart disease after a cancer diagnosis.

AIMS: Individuals with congenital heart disease (CHD) are at an increased risk for cancer. As cancer survival rates improve, the prevalence of late side effects, such as heart failure (HF), is becoming more evident. This study aims to evaluate the risk of developing HF following a cancer diagnosis in patients with CHD, compared with those without CHD and with CHD patients who do not have cancer. METHODS: CHD patients (n = 69 799) and randomly selected non-CHD controls (n = 650 406), born in Sweden between 1952 and 2017, were identified from the Swedish National Health Registers and Total Population Register (excluding those with syndromes and transplant recipients). CHD patients who developed cancer (n = 1309) were propensity score-matched with non-CHD patients who developed cancer (n = 9425), resulting in a cohort of 1232 CHD patients with cancer and 2602 non-CHD controls with cancer (after exclusion of individuals with HF prior to cancer diagnosis). In a separate analysis, CHD patients with cancer were propensity score-matched with CHD patients without cancer (n = 68 490). A total of 1233 CHD patients with cancer and 2257 CHD patients without cancer were included in the study. RESULTS: Among CHD patients with cancer, 73 (5.9%) developed HF during a mean follow-up time of 8.5 ± 8.7. Comparatively, in the propensity-matched control population, 29 (1.1%) non-CHD cancer patients (mean follow-up time of 7.3 ± 7.5) and 101 (4.5%) CHD patients without cancer (mean follow-up time of 9.9 ± 9.2) developed HF. CHD patients exhibited a significantly higher risk of HF post-cancer diagnosis compared with the non-CHD control group [hazard ratio (HR) 4.39, 95% confidence interval (CI) 2.83-6.81], after adjusting for age at cancer diagnosis and comorbidities. In the analysis between CHD patients with cancer and those without cancer, the results indicated a significantly higher risk of developing HF in CHD patients with cancer (HR 1.53, 95% CI 1.13-2.07). CONCLUSIONS: CHD patients face a more than four-fold increased risk of developing HF after a cancer diagnosis compared with cancer patients without CHD. Among CHD patients, the risk of HF is only modestly higher for those with cancer than for those without cancer. This suggests that the increased HF risk in CHD patients with cancer, relative to non-CHD cancer patients, may be more attributable to CHD itself than to cancer treatment-related side effects.

Long-Term Outcomes Following the Ross Procedure in Neonates and Infants: A Multi-Institutional Analysis.

OBJECTIVES: For neonates and infants with aortic valve pathology, the Ross procedure has historically been associated with high rates of morbidity and mortality. Data regarding long-term durability are lacking. METHODS: The international, multi-institutional Ross Collaborative included six tertiary-care centers. Infants who received a Ross operation between 1996-2016 (allowing a minimum five years of follow-up) were retrospectively identified. Serial echocardiograms were examined to study evolution in neoaortic size and function. RESULTS: Primary diagnoses for the 133 patients (n=30 neonates) included isolated aortic stenosis (AS; 14%, n=19), Shone complex (14%, n=19), and AS+other (excluding Shone complex; n=95, 71%) including arch obstruction (n=55), left ventricular hypoplasia (n=9), and mitral disease (>moderate stenosis or regurgitation, n=31). At the time of Ross, median age was 96 (IQR 36-186) days and median weight was 4.4 (3.6-6.5) kg. In-hospital mortality occurred in 13/133 (10%) patients (4/30 [13%] neonates). Post-discharge mortality occurred in 10/120 (8%) patients at a median 298 days post-Ross. Post-Ross neoaortic dilatation occurred, peaking at 4-5 standard deviations above normal at 2-3 years before returning to near-baseline z-score at a median follow-up of 11.5 [6.4-17.4] years. Autograft/LVOT reintervention was required in 5/120 (4%) patients at a median 10.3 [4.1-12.8] years. Freedom from >moderate neoaortic regurgitation (AR) was 86% at 15 years. CONCLUSIONS: Neonates and infants experience excellent post-discharge survival and long-term freedom from autograft reintervention and AR following Ross. Neoaortic dilatation normalizes in this population in the long-term. Increased consideration should be given to Ross in neonates and infants with aortic valve disease.

Demonstrating responsiveness of the pediatric cardiac quality of life inventory in children and adolescents undergoing arrhythmia ablation, heart transplantation, and valve surgery.

PURPOSE: Pediatric Cardiac Quality of Life Inventory (PCQLI) is a disease-specific pediatric cardiac health-related quality of life (HRQOL) instrument that is reliable, valid, and generalizable. We aim to demonstrate PCQLI responsiveness in children undergoing arrhythmia ablation, heart transplantation, and valve surgery before and after cardiac intervention. METHODS: Pediatric cardiac patients 8-18 years of age from 11 centers undergoing arrhythmia ablation, heart transplantation, or valve surgery were enrolled. Patient and parent-proxy PCQLI Total, Disease Impact and Psychosocial Impact subscale scores were assessed pre- and 3-12 months follow-up. Patient clinical status was assessed by a clinician post-procedure and dichotomized into markedly improved/improved and no change/worse/much worse. Paired t-tests examined change over time. RESULTS: We included 195 patient/parent-proxies: 12.6 ± 3.0 years of age; median follow-up time 6.7 (IQR = 5.3-8.2) months; procedural groups - 79 (41%) ablation, 28 (14%) heart transplantation, 88 (45%) valve surgery; clinical status - 164 (84%) markedly improved/improved, 31 (16%) no change/worse/much worse. PCQLI patient and parent-proxies Total scores increased (p ≤ 0.013) in each intervention group. All PCQLI scores were higher (p < 0.001) in the markedly improved/improved group and there were no clinically significant differences in the PCQLI scores in the no difference/worse/much worse group. CONCLUSION: The PCQLI is responsive in the pediatric cardiac population. Patients with improved clinical status and their parent-proxies reported increased HRQOL after the procedure. Patients with no improvement in clinical status and their parent-proxies reported no change in HRQOL. PCQLI may be used as a patient-reported outcome measure for longitudinal follow-up and interventional trials to assess HRQOL impact from patient and parent-proxy perspectives.

It is important to have quality of life (QOL) measures that are sensitive to change in QOL before and after procedures and to be sensitive to change over time. The Pediatric Cardiac Quality of Life Inventory (PCQLI) is a QOL measure specifically developed for children with cardiac disease. This study assessed the responsiveness of the PCQLI to detect change in QOL over time. QOL in Children and adolescents who were being treated for abnormal heart rhythms, heart transplantation, and aortic, pulmonary, or mitral valve surgery were assessed before and after their procedure. Children and adolescents with improved clinical status post-procedure, and their parents, reported better QOL after the procedure. Patients with no improvement from a cardiac standpoint and their parents reported no change in QOL after their procedure. The PCQLI may be used to assess QOL before and after cardiac procedures or medical treatment and follow QOL over time.

Combined Exercise and Mindset Training During a Pediatric Cardiac Fitness and Rehabilitation Program Benefits Youth with a Range of Congenital Heart Disease.

Pediatric cardiac fitness and rehabilitation programs vary widely in structure and content. The Cardiac Fitness Program (CFP) is built on traditional training pillars of aerobic, strength, and flexibility, and adds a fourth, training a positive mindset. This study assesses whether the systematic and comprehensive framework of the CFP results in broad benefits for a range of patients with congenital heart disease (CHD). Data from participants between 01/2017 and 12/2022 were analyzed. Pre- and post-CFP cardiopulmonary exercise test parameters, strength and flexibility metrics, and mindset survey results were compared overall, and by sex, age, diagnosis, and hemodynamic level. Of 62 participants (median age 15.5 years, range 8 to 23, 50% female), 3% had simple, 37% complex, 24% single ventricle CHD, and 35% arrhythmia, cardiomyopathy, or transplant. Significant improvements were noted in aerobic fitness (mean 9 ± 15% increase in % predicted peak oxygen consumption, p < 0.001). Strength metrics significantly improved (each p < 0.001), as did flexibility (p < 0.001). Patient-reported positive mindset scores did not improve significantly (mean increase 1.8 ± 5.1, p = 0.10, n = 25), whereas parents reported significant improvements (5.9 ± 10.4, p = 0.02, n = 20). Improvements were not significantly different by sex, age, diagnosis, or hemodynamic level. Comprehensive training across four pillars of fitness yields significant improvements in aerobic fitness, strength, flexibility, and parent-reported mindset scores for pediatric CHD patients, regardless of patient characteristics, diagnosis type, or severity of hemodynamic limitation. Further study is warranted into optimal standardization of training and whether a comprehensive approach amplifies individual pillars to create more than the sum of its parts.

A complex case of univentricular heart with multiple congenital malformations diagnosed in a newborn: a case report and literature review.

Introduction: Univentricular heart disease is a relatively rare condition that affects infants, with a prevalence ranging from 0.05 to 0.1 per 1000 live births. It is characterized by an abnormality in the structure of the heart, specifically the presence of only one main pumping chamber (ventricle) instead of the usual two. Presentation of case: In this particular case, a newborn male was diagnosed with double-inlet left ventricle (DILV), a specific form of univentricular heart disease. Following his birth, he exhibited symptoms of central cyanosis (a bluish tint to the skin due to poor oxygenation) and difficulties with breastfeeding. Clinical evaluation, along with a heart ultrasound, confirmed the need for palliative surgery. At the age of 6 months, the patient is scheduled to undergo the Glenn procedure, a surgical intervention that aims to redirect blood flow to the lungs and improve oxygenation. Clinical discussion: Given the complexity of double-inlet single ventricle anomalies, there are multiple differential diagnoses that need to be considered for accurate diagnosis, including conditions such as tricuspid atresia, large ventricular septal defect and corrected transposition of the great arteries with ventricular septal defect. Conclusion: Early intervention in the immediate postnatal period plays a crucial role in improving survival rates and reducing long-term complications. It is, therefore, essential to continue researching and refining treatment approaches.

T2*-Relaxometry MRI to Assess Third Trimester Placental and Fetal Brain Oxygenation and Placental Characteristics in Healthy Fetuses and Fetuses With Congenital Heart Disease.

BACKGROUND: Congenital heart disease (CHD) has been linked to impaired placental and fetal brain development. Assessing the placenta and fetal brain in parallel may help further our understanding of the relationship between development of these organs. HYPOTHESIS: 1) Placental and fetal brain oxygenation are correlated, 2) oxygenation in these organs is reduced in CHD compared to healthy controls, and 3) placental structure is altered in CHD. STUDY TYPE: Retrospective case-control. POPULATION: Fifty-one human fetuses with CHD (32 male; median [IQR] gestational age [GA] = 32.0 [30.9-32.9] weeks) and 30 from uncomplicated pregnancies with normal birth outcomes (18 male; median [IQR] GA = 34.5 [31.9-36.7] weeks). FIELD STRENGTH/SEQUENCE: 1.5 T single-shot multi-echo-gradient-echo echo-planar imaging. ASSESSMENT: Masking was performed using an automated nnUnet model. Mean brain and placental T2* and quantitative measures of placental texture, volume, and morphology were calculated. STATISTICAL TESTS: Spearman's correlation coefficient for determining the association between brain and placental T2*, and between brain and placental characteristics with GA. P-values for comparing brain T2*, placenta T2*, and placental characteristics between groups derived from ANOVA. Significance level P < 0.05. RESULTS: There was a significant positive association between placental and fetal brain T2* (⍴ = 0.46). Placental and fetal brain T2* showed a significant negative correlation with GA (placental T2* ⍴ = -0.65; fetal brain T2* ⍴ = -0.32). Both placental and fetal brain T2* values were significantly reduced in CHD, after adjusting for GA (placental T2*: control = 97 [±24] msec, CHD = 83 [±23] msec; brain T2*: control = 218 [±26] msec, CHD = 202 [±25] msec). Placental texture and morphology were also significantly altered in CHD (Texture: control = 0.84 [0.83-0.87], CHD = 0.80 [0.78-0.84]; Morphology: control = 9.9 [±2.2], CHD = 10.8 [±2.0]). For all fetuses, there was a significant positive association between placental T2* and placental texture (⍴ = 0.46). CONCLUSION: Placental and fetal brain T2* values are associated in healthy fetuses and those with CHD. Placental and fetal brain oxygenation are reduced in CHD. Placental appearance is significantly altered in CHD and shows associations with placental oxygenation, suggesting altered placental development and function may be related. EVIDENCE LEVEL: 3 TECHNICAL EFFICACY: Stage 3.

Congenital heart disease: types, pathophysiology, diagnosis, and treatment options.

Congenital heart disease (CHD) is a structural abnormality of the heart and/or great vessels and patients with CHD are at an increased risks of various morbidities throughout their lives and reduced long-term survival. Eventually, CHD may result in various complications including heart failure, arrhythmias, stroke, pneumonia, and sudden death. Unfortunately, the exact etiology and pathophysiology of some CHD remain unclear. Although the quality of life and prognosis of patients with CHD have significantly improved following technological advancement, the influence of CHD is lifelong, especially in patients with complicated CHD. Thus, the management of CHD remains a challenge due to its high prevalence. Finally, there are some disagreements on CHD among international guidelines. In this review, we provide an update of the pathophysiology, diagnosis, and treatment in most common type of CHD, including patent foramen ovale, atrial septal defect, ventricular septal defect, atrioventricular septal defect, patent ductus arteriosus, coarctation of the aorta, transposition of the great arteries, congenitally corrected transposition of the great arteries, coronary anomalies, left and right ventricular outflow tract obstruction, tetralogy of Fallot and Ebstein anomaly. In particular, we focus on what is known and what is unknown in these areas, aiming to improve the current understanding of various types of CHD.

Atrial Septal Defect (ASD) Repair Unveiling an Unusual Conduction Conundrum: A Wenckebach Case Report.

Atrial septal defects are a common congenital malformation that can lead to an elevated risk for stroke due to the bypass of the lungs by deep vein thrombosis, as well as the expected repercussions of pulmonary hypertension if left untreated. Surgical intervention is definitive; however, recent advancements in treatment options, such as percutaneous intervention, represent a safer and equally effective way to treat this congenital complication. While safer, percutaneous interventions can also lead to adverse events that may force patients to present to the emergency department. Here, we present a unique case of a patient with congenital atrial septal defect status post-percutaneous intervention who developed a new-onset second-degree AV block, Mobitz type 1 Wenckebach rhythm.

Advancement in computational simulation and validation of congenital heart disease: a review.

The improvement in congenital heart disease (CHD) treatment and management has increased the life expectancy in infants. However, the long-term efficacy is difficult to assess and thus, computational modelling has been applied for evaluating this. Here, we provide an overview of the applications of computational modelling in CHD based on three categories; CHD involving large blood vessels only, heart chambers only, and CHD that occurs at multiple heart structures. We highlight the advancement of computational simulation of CHD that uses multiscale and multiphysics modelling to ensure a complete representation of the heart and circulation. We provide a brief future direction of computational modelling of CHD such as to include growth and remodelling, detailed conduction system, and occurrence of myocardial infarction. We also proposed validation technique using advanced three-dimensional (3D) printing and particle image velocimetry (PIV) technologies to improve the model accuracy.

Clinical impact of novel CMR technology on patients with congenital heart disease. A scientific statement of the Association for European Pediatric and Congenital Cardiology (AEPC) and the European Association of Cardiovascular Imaging (EACVI) of the ESC.

Cardiovascular magnetic resonance (CMR) imaging is recommended in patients with congenital heart disease (CHD) in clinical practice guidelines as the imaging standard for a large variety of diseases. As CMR is evolving, novel techniques are becoming available. Some of them are already used clinically, whereas others still need further evaluation. In this statement the authors give an overview of relevant new CMR techniques for the assessment of CHD. Studies with reference values for these new techniques are listed in the supplement.

Application of a Novel Mitral Valvuloplasty Strategy in Children with Mitral Regurgitation.

To retrospectively analyze the clinical efficacy of an innovative mitral valvuloplasty strategy in the treatment of mitral regurgitation in children. From January 2018 to December 2022, 140 patients undergoing surgical treatment for mitral regurgitation in our hospital were enrolled. Ninety patients underwent three-step standardized pediatric mitral valvuloplasty (group A) and 50 patients underwent simple annuloplasty (group B). The incidence of primary and secondary study endpoint was compared between the two groups, and the independent risk factors for the primary study endpoint were determined. Our primary study endpoint was a composite endpoint of postoperative functional mitral failure, postoperative heart failure, transplantation, and/or mortality. Secondary end points were defined as perioperative complications. During the follow-up period, there was no all-cause death. Primary endpoint events occurred in 22 patients, including 12 patients in group A and 10 patients in group B. There was no significant difference in the incidence of primary and secondary endpoint events between the two groups. Multivariate Cox proportional hazards regression analysis showed that younger age and residual mitral regurgitation at discharge were independent risk factors for the primary endpoint events, while type of MV repair was not an independent risk factor. Subgroup analysis based on age showed that primary endpoint events occurred in 4 patients in group A and 7 patients in group B in patients < 1 year old. The incidence of primary endpoint events in group A was lower than that in group B (6.06% vs. 20.59%, P = 0.041). In patients ≥ 1 year old, the primary endpoint event occurred in 8 cases in group A and 3 cases in group B. There was no significant difference in the incidence of primary endpoint events between groups A and B (33.33% vs. 18.75%, P = 0.312). The degree of mitral regurgitation at discharge was significantly improved compared with that before operation in both groups (P < 0.001), and the degree of mitral regurgitation at the last follow-up was not significantly worse than that at discharge (P = 0.090). The mid-term results of mitral valvuloplasty for mitral regurgitation in children are encouraging. The perioperative recovery and postoperative outcomes of three-step standardized mitral valvuloplasty in children are not inferior to those of annuloplasty alone. Three-step standardized pediatric mitral valvuloplasty has better postoperative outcomes than simple mitral annuloplasty, especially for patients younger than 1 year old. Children with residual mitral regurgitation at discharge should be followed up regularly to be alert to the occurrence of poor prognosis.

Altered Inflammatory State and Mitochondrial Function Identified by Transcriptomics in Paediatric Congenital Heart Patients Prior to Surgical Repair.

Congenital heart disease (CHD) remains the most common birth defect, with surgical intervention required in complex cases. Right ventricle (RV) function is known to be a major predictor of sustained cardiac health in these patients; thus, by elucidating the divergent profiles between CHD and the control through tissue analysis, this study aims to identify new avenues of investigation into the mechanisms surrounding reduced RV function. Transcriptomic profiling, in-silico deconvolution and functional network analysis were conducted on RV biopsies, identifying an increase in the mitochondrial dysfunction genes RPPH1 and RMPR (padj = 4.67 × 10-132, 2.23 × 10-107), the cytotoxic T-cell markers CD8a, LAGE3 and CD49a (p = 0.0006, p < 0.0001, and p = 0.0118) and proinflammatory caspase-1 (p = 0.0055) in CHD. Gene-set enrichment identified mitochondrial dysfunctional pathways, predominately changes within oxidative phosphorylation processes. The negative regulation of mitochondrial functions and metabolism was identified in the network analysis, with dysregulation of the mitochondrial complex formation. A histological analysis confirmed an increase in cellular bodies in the CHD RV tissue and positive staining for both CD45 and CD8, which was absent in the control. The deconvolution of bulk RNAseq data suggests a reduction in CD4+ T cells (p = 0.0067) and an increase in CD8+ T cells (p = 0.0223). The network analysis identified positive regulation of the immune system and cytokine signalling clusters in the inflammation functional network, as there were lymphocyte activation and leukocyte differentiation. Utilising RV tissue from paediatric patients undergoing CHD cardiac surgery, this study identifies dysfunctional mitochondrial pathways and an increase in inflammatory T-cell presence prior to reparative surgery.

4-Dimensional Right Ventricular Outflow Tract Segmentation to Evaluate Candidacy for Transcatheter Pulmonary Valve Replacement.

Candidacy for transcatheter pulmonary valve replacement utilizing newer valve platforms is aided by industry-driven fit analyses. We report augmentation of this decision-making process by visualization of 4-dimensional cine imaging of patient-specific right ventricular outflow tract anatomy and a virtual valve model within a virtual reality platform.