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The purpose of the study is to estimate factors affecting survival in prenatally diagnosed hypoplastic left heart syndrome (HLHS) and echocardiographic features predicting poor prognosis and early neonatal death.This study was designed as a retrospective cohort study. Cases of hypoplastic left heart syndrome diagnosed in the prenatal period between 2014 and 2023 were extracted from electronic medical records. Demographic data, echocardiographic features, results of genetic testing, pregnancy outcomes, and postnatal outcomes were analyzed.Eighty-three prenatally diagnosed fetal HLHS cases were analyzed. Overall, survival during the study period was 26.5 %, and survival among live births was 35.4 %. Survival analysis has shown that the majority of deaths occurred during the neonatal period. Out of 62 live births, 47 had Norwood procedures, six had balloon procedures and three had hybrid procedures. Eleven out of 47 who had the Norwood procedures went on to have a Glenn operation, and only three had full Fontan palliation. The presence of additional extra-cardiac anomaly, need for extracorporeal membrane oxygenation (ECMO), bidirectional flow at pulmonary veins on color Doppler, and low birth weight are associated with survival and early neonatal death. Tricuspid regurgitation, restrictive foramen ovale, and fetal growth restriction (FGR) are not associated with survival. HLHS evolved from critical aortic stenosis has better survival rates.Extra-cardiac anomaly, need for ECMO, bidirectional flow at pulmonary veins, and low birth weight were negatively associated with survival and early neonatal death. The survival rate was higher among HLHS cases that had evolved from critical aortic stenosis. [ABSTRACT FROM AUTHOR]

Background: Perinatal palliative care can offer compassionate support to families following diagnosis of a life-limiting illness, to enable them to make valued choices and the most of the time that they have with their newborn. However, home birth is usually only offered in low-risk pregnancies. Case: A couple who received an antenatal diagnosis of hypoplastic left heart syndrome and who had made a plan to provide palliative care to their baby after birth requested the option of a home birth. Possible courses of action: Recommend birth at hospital or explore the possibility of a home birth with perinatal palliative care support. Formulation of a plan: Multidisciplinary discussion and collaboration enabled a plan for home birth to be made which anticipated potential complications. Outcome: The baby was born at home and died on day 5 of life receiving outreach nursing, paediatric and palliative care support and buccal and oral opioids for symptom management. We include reflections from the family on the importance of this experience. Lessons: We provide a list of potential criteria for considering home birth in the setting of perinatal palliative care. View: Facilitating a home birth in the setting of perinatal palliative care is an option that can be hugely valued by families, but this service may be practically difficult to deliver in many contexts. Further research is needed to understand the preferences of women and families receiving perinatal palliative care. [ABSTRACT FROM AUTHOR]

Objective: Fetal cardiac anomalies are the most commonly diagnosed structural anomalies. In these cases, Maternal-Fetal Medicine (MFM) specialists are tasked with counseling patients on a spectrum of diagnoses as well as their prognostic implications. A recent study of pediatric cardiologists demonstrated that personal beliefs regarding termination impact the counseling provided to patients. Our objective was to study whether the personal beliefs of MFMs impact counseling of patients with severe fetal cardiac anomalies and to compare these providers to their cardiology counterparts. Methods: We conducted an anonymous cross-sectional survey of MFMs in New England that assessed personal beliefs and counseling practices when diagnosing hypoplastic left heart syndrome (HLHS). We subsequently compared these providers to the previously surveyed cardiologists. Results: A total of 34 respondents representing a broad spectrum of age and experience across several states in New England were analyzed. When presented with the statement "some life is always better than no life at all," 79% (n = 27) of respondents disagreed and all respondents (n = 34) offered termination, palliative care, and treatment options when counseling patients with HLHS. Additionally, while 74% (n = 25) of providers would personally support a decision to terminate a pregnancy with HLHS, 94% (n = 32) would professionally support the decision to pursue termination. MFMs and cardiologists differed in their responses to "some life is better than no life" and the belief that termination should be offered, though differences did not reach statistical significance. However, with respect to the providers' personal and professional support of the decision to terminate the pregnancy, the groups of respondents varied significantly in their level of support, both professionally and personally with fewer cardiologists supporting this decision. Conclusion: When diagnosing a severe and potentially fatal congenital cardiac anomaly, counseling by MFMs was largely unaffected by personal beliefs regarding termination of pregnancy. While this is consistent with previously published data on counseling practices among pediatric cardiology specialists, some important differences between the specialties were seen. [ABSTRACT FROM AUTHOR]

Hypoplastic left heart syndrome (HLHS) is fatal without surgical intervention. An important subset of HLHS patients die prior to surgical intervention, but this population is underevaluated. The neonatal sequential organ failure assessment score (nSOFA) is an operational definition of organ dysfunction that can identify those with a high risk of mortality among neonatal intensive care unit (NICU) patients. The utility of the nSOFA to predict preoperative mortality in the unique HLHS population is unknown and could inform care, particularly care provided by neonatology staff. We performed a multicenter retrospective cohort study of HLHS cases across three level IV NICUs from January 1, 2009, to December 3, 2023. Patients were classified as either survived or died prior to surgical intervention. Demographic variables were curated from medical records including the maximum nSOFA (nSOFAmax) before surgical intervention or death. We identified 265 patients with HLHS over the study period. The nSOFAmax was greater in patients who died preoperatively (14/265; 5%) compared with survivors to surgical intervention (median 8 [interquartile range, 6, 12] vs. 2 [0, 4]; p < 0.001). The area under receiver operating characteristics curve for the nSOFAmax to discriminate for mortality was 0.93 (95% confidence interval, 0.88–0.98; p < 0.001). Compared with an nSOFAmax of 0, the likelihood ratio for preoperative death doubled at 2, tripled at 4, and was 10-fold at 9. This is the first demonstration of nSOFA utility in specific to congenital heart disease and HLHS. The nSOFAmax represents a novel, electronic health record-compatible, and generalizable method to identify patient-level organ dysfunction and risk for preoperative mortality in HLHS patients. Key Points An important subset of HLHS patients die preoperatively. nSOFA can be used to measure preoperative HLHS severity. nSOFA predicts preoperative mortality risk in HLHS patients. [ABSTRACT FROM AUTHOR]

Background: Patients with hypoplastic left heart syndrome undergo the comprehensive stage 2 procedure as the second stage in the hybrid approach toward Fontan circulation. The complexity of comprehensive stage 2 procedure is considered a potential limitation, and limited information is available on its anesthetic management. This study aims to address this gap. Methods: A single‐center retrospective cohort study analyzed 148 HLHS patients who underwent comprehensive stage 2 procedure, divided into Group A (stable condition, n = 116) and Group B (requiring preoperative intravenous inotropic therapy, n = 32). Demographic data, intraoperative hemodynamics, anesthetic management, and postoperative outcomes were collected. Results: Etomidate (40%) was the most common induction agent, followed by esketamine (24%), midazolam (16%), and propofol (13%). Inhaled induction was rarely necessary (2%), occurring only in Group A patients. No statistical differences were found between groups for induction drug choice. Post‐cardiopulmonary bypass management included moderate hypoventilation, inhaled nitric oxide (100%), and hemodynamic support with milrinone (97%) and norepinephrine (77%). Group B patients more frequently required additional levosimendan (20%) and epinephrine (18%). Extracorporeal membrane oxygenation was necessary in 8 patients (5%) with no between‐group differences. Switching from fentanyl to remifentanil reduced postoperative ventilation time overall. However, Group B experienced significantly longer ventilation (6.3 vs. 3.5 h) and ICU stay (22 vs. 14 days). In‐hospital mortality was 5% overall (Group A: 4%, Group B: 9%). Long‐term survival analysis revealed a significant advantage for Group A. Conclusion: The use of short‐acting opioids and adjusted ventilation modes enables optimal pulmonary blood flow and rapid transition to spontaneous breathing. Differentiated hemodynamic support with milrinone, norepinephrine, supplemented by levosimendan and epinephrine in high‐risk patients, can mitigate the effects on the preoperatively volume‐loaded right ventricle. However, differences in long‐term survival probability were observed between groups. Trial Registration: Local ethics committee, Medical Faculty, Justus‐Liebig‐University‐Giessen (Trial Code Number: 216/14). [ABSTRACT FROM AUTHOR]

To date, evidence supporting the efficacy of tricuspid valve (TV) repair in interrupting the progression of systemic right ventricular (RV) adverse remodeling in hypoplastic left heart syndrome (HLHS) is conflicting. We conducted a systematic review and meta-analysis of scientific literature to assess the impact of TV repair in effectively modifying the prognosis of patients with HLHS. We conducted a systematic review of PubMed, Web of Science, and Scopus databases. A random-effect meta-analysis was performed and transplant-free survival, freedom from TV regurgitation, and TV reoperation data were reconstructed using the published Kaplan–Meier curves. Nine studies were included, comprising 203 HLHS patients undergoing TV repair and 323 HLHS controls. The estimated transplant-free survival at 1, 5, and 10 years of follow-up was 75.5% [95% confidence interval (CI) = 67.6–84.3%], 63.6% [95% CI = 54.6–73.9%], and 61.9% [95% CI = 52.7–72.6%], respectively. Transplant-free survival was comparable to HLHS peers without TV regurgitation (p = 0.59). Five-year freedom from recurrence of TV regurgitation and freedom from TV reoperation was 57% [95% CI = 46.7–69.7%] and 63.6% [95% CI = 54.5–74.3%], respectively. Younger age and TV repair at the time of Norwood operation increased the risk of TV regurgitation recurrence and the need for TV reoperation. Our meta-analysis supports the efficacy of TV repair in favorably modifying the prognosis of patients with HLHS and TV regurgitation, reestablishing a medium-term transplant-free survival which is comparable to HLHS peers. However, durability of surgery and long-term fate of TV and RV performance are still unclear. [ABSTRACT FROM AUTHOR]

The article from the European Heart Journal focuses on adult congenital heart disease and the role of inflammation and clonal haematopoiesis in heart failure. It highlights the importance of educating non-congenital cardiologists about the specific needs of patients with congenital heart disease. Additionally, the article discusses the emerging role of clonal haematopoiesis in dilated cardiomyopathy and the potential use of digital twin technology in cardiovascular care. The study also examines the association between assisted reproductive technology and congenital heart defects in children. [Extracted from the article]

Congenital heart defects (CHDs) rank among the most common birth defects, presenting diverse phenotypes. Genetic and environmental factors are critical in molding the process of cardiogenesis. However, these factors' interactions are not fully comprehended. Hence, this study aimed to identify and characterize differentially expressed genes involved in CHD development through bioinformatics pipelines. We analyzed experimental datasets available in genomic databases, using transcriptome, gene enrichment, and systems biology strategies. Network analysis based on genetic and phenotypic ontologies revealed that EP300, CALM3, and EGFR genes facilitate rapid information flow, while NOTCH1, TNNI3, and SMAD4 genes are significant mediators within the network. Differential gene expression (DGE) analysis identified 2513 genes across three study types, (1) Tetralogy of Fallot (ToF); (2) Hypoplastic Left Heart Syndrome (HLHS); and (3) Trisomy 21/CHD, with LYVE1, PLA2G2A, and SDR42E1 genes found in three of the six studies. Interaction networks between genes from ontology searches and the DGE analysis were evaluated, revealing interactions in ToF and HLHS groups, but none in Trisomy 21/CHD. Through enrichment analysis, we identified immune response and energy generation as some of the relevant ontologies. This integrative approach revealed genes not previously associated with CHD, along with their interactions and underlying biological processes. [ABSTRACT FROM AUTHOR]

The article discusses the potential association between maternal COVID-19 infection and congenital heart defects in newborns during the pandemic. Research conducted in the USA using birth certificate data showed an increase in the incidence of cyanotic congenital heart defects during the COVID-19 pandemic. The study suggests a need for further research to explore the possible link between maternal COVID-19 infection and fetal cardiac abnormalities, highlighting the importance of understanding the impact of the pandemic on birth outcomes. [Extracted from the article]

Background: MYH6 variants are the most well-known genetic risk factor (10%) for hypoplastic left heart syndrome (HLHS) and are associated with decreased cardiac transplant-free survival. MYH6 encodes for α-myosin heavy chain (α-MHC), a contractile protein expressed in the neonatal atria. We therefore assessed atrial function in HLHS patients with MYH6 variants. Methods: We performed a retrospective, blinded assessment of pre-stage I atrial function using 2D speckle-tracking echocardiography (2D-STE). Variant carriers were control-matched based on AV valve anatomy, sex, and birth year. Studies were obtained postnatally from awake patients prior to surgical intervention. Right atrial (RA) and right ventricular (RV) strain and strain rate (SR) were measured from the apical four-chamber view. Results: A total of 19 HLHS patients with MYH6 variants had echocardiograms available; 18 were matched to two controls each, and one had a single control. RA active strain (ASct) was decreased in variant carriers (−1.41%, IQR −2.13, −0.25) vs. controls (−3.53%, IQR −5.53, −1.28; p = 0.008). No significant differences were identified in RV strain between the groups. RA reservoir strain (ASr) and conduit strain (AScd) positively correlated with heart rate (HR) in MYH6 variant carriers only (ASr R = 0.499, p = 0.029; AScd R = 0.469, p = 0.043). RV global longitudinal strain (GLS) as well as RV systolic strain (VSs) and strain rate (VSRs) correlated with HR in controls only (GLS R = 0.325, p = 0.050; VSs R = 0.419, p = 0.010; VSRs R = 0.410, p = 0.012). Conclusions: We identified functional consequences associated with MYH6 variants, a known risk factor for poor outcomes in HLHS. MYH6 variant carriers exhibit impaired RA contractility despite there being no differences in RV function between variant carriers and controls. MYH6 variants are also associated with an ineffective RA reservoir and conduit function at high heart rates, despite preserved RV diastolic function. RA dysfunction and reduced atrial "kick" may therefore be a significant contributor to RV failure and worse clinical outcomes in HLHS patients with MYH6 variants. [ABSTRACT FROM AUTHOR]

A study was conducted to assess the impact of early anesthesia assessment on reducing MRI cancellations in pediatric patients at a children's hospital. The research found that timely evaluation may help decrease cancellations, highlighting the significance of prompt anesthesia management in pediatric care. Additionally, the study compared the effectiveness of ultrasound-guided suprazygomatic nerve block and greater palatine nerve block in children undergoing palatoplasty, with better pain scores and recovery in feeding ability observed in the suprazygomatic nerve block group. Further research is recommended to validate these findings. [Extracted from the article]

Background: Nearly half of congenital heart defects (CHDs) related to mortality occur during infancy although advancements in treatments have increased the survival rates. This study comprehensively examined overall and surgical mortality in CHD infants with the highest mortality rates in an effort to improve our understanding of CHD epidemiology. Methods: Participants were drawn from a dataset of 1,964,691 infants born between 2014 and 2018 in Korea. Crucial CHDs are defined here as including diverse categorical defects and classical critical CHDs but excluding simple shunt defects. Overall mortality (procedural and natural mortality) and procedural mortality (interventional and surgical mortality) for infants were analyzed. Results: The performance rate for multiple procedures in infants with crucial CHDs was 16%. The overall and surgical mortalities of crucial CHDs were 8% and 7%. The mortalities of palliative procedures were relatively high. Procedural mortalities for infants were significantly decreased in the tetralogy of Fallot (TOF), atrioventricular septal defects, and total anomalous pulmonary venous return (TAPVR) compared with overall mortalities for infants. Surgical mortalities for infants involving TOF and TAPVR were significantly lower, but those for infants involving hypoplastic left heart syndrome (HLHS) were higher than those for all ages. Conclusions: Palliative procedural techniques in infants must be improved to obtain better outcomes, particularly in the palliative surgery of HLHS. The infantile procedural outcomes for TOF and TAPVR are excellent and important in order to overcome disastrous circumstances during infancy. This comprehensive study of the overall and procedural mortalities of CHDs may have laid a cornerstone for CHD epidemiology in Korean infants. [ABSTRACT FROM AUTHOR]

The article discusses the consensus opinion from the Fetal Heart Society on the acute maternal hyperoxygenation (MH) protocol. Acute MH testing can help understand fetal pulmonary vascular reactivity and simulate postnatal circulatory shifts. The document provides a standardized approach to conducting acute MH testing, including indications, timing, oxygen administration, fetal echocardiography assessments, and interpretation of findings. The consensus opinion aims to guide fetal cardiac centers interested in implementing acute MH testing for clinical and research purposes. [Extracted from the article]

Purpose of Review: Hypoplastic left heart syndrome (HLHS) is a critical congenital heart defect characterized by the underdevelopment of left-sided heart structures, leading to significant circulatory challenges, and necessitating multiple surgeries for survival. Despite advancements in surgical interventions, long-term outcomes often involve heart failure, highlighting the need for a deeper understanding of HLHS pathogenesis. Current in vivo and in vitro models aim to recapitulate HLHS anatomy and physiology, yet they face limitations in accuracy and complexity. Recent Findings: In vivo models, including those in chick, lamb, and mouse, provide insights into hemodynamic and genetic factors influencing HLHS. In vitro models using human induced pluripotent stem cells offer valuable platforms for studying genetic mutations and cellular mechanisms. Summary: This review evaluates these models' utility and limitations, and proposes future directions for developing more sophisticated models to enhance our understanding and treatment of HLHS. [ABSTRACT FROM AUTHOR]

Congenital heart disease (CHD) remains a significant global health challenge, particularly contributing to newborn mortality, with the highest rates observed in middle- and low-income countries due to limited healthcare resources. Machine learning (ML) presents a promising solution by developing predictive models that more accurately assess the risk of mortality associated with CHD. These ML-based models can help healthcare professionals identify high-risk infants and ensure timely and appropriate care. In addition, ML algorithms excel at detecting and analyzing complex patterns that can be overlooked by human clinicians, thereby enhancing diagnostic accuracy. Despite notable advancements, ongoing research continues to explore the full potential of ML in the identification of CHD. The proposed article provides a comprehensive analysis of the ML methods for the diagnosis of CHD in the last eight years. The study also describes different data sets available for CHD research, discussing their characteristics, collection methods, and relevance to ML applications. In addition, the article also evaluates the strengths and weaknesses of existing algorithms, offering a critical review of their performance and limitations. Finally, the article proposes several promising directions for future research, with the aim of further improving the efficacy of ML in the diagnosis and treatment of CHD. [ABSTRACT FROM AUTHOR]

Determine obstetrical and neonatal outcomes in neonates with major CHD delivered at a level IV neonatal intensive care units (NICU) center lacking onsite pediatric cardiac surgery.A 10- year retrospective review of all neonates admitted to our level IV NICU, with CHD between January 1st, 2011 and December 31st, 2021. Births and NICU charts were cross queried with those from our perinatal center which include pediatric cardiology records. Terminations and stillbirths were excluded.A total of 285 neonates with major CHD and 78 with minor defects were included. In the major CHD group, 82.8 % had an isolated cardiac anomaly and 17.2 % had an extracardiac anomaly. Type of extracardiac anomaly had no impact on neonatal survival. Prenatal diagnosis of aneuploidy did not impact survival in major CHD. Truncus arteriosus had the highest NICU mortality at 34.0 % followed by hypoplastic left heart syndrome (HLHS) at 31.6 %. Double outlet right ventricle with transposition of the great vessels and interrupted aortic arch (both types) had a 25 % mortality. Neonates with truncus arteriosus and total anomalous pulmonary venous returns were likely to have 5-min Apgar score<7. Transfer rate of neonates with major CHD for cardiac surgery was 58.6 %. Of those 81.5 % were discharged home, 14.3 % expired before discharge, and 1 % were transferred elsewhere post-operatively for higher level of care.Neonates with major CHD can deliver safely at a level IV NICU lacking onsite pediatric cardiac surgery. Our neonatal mortality was high for HLHS and truncus arteriosus, however comparable to other centers with proximate pediatric cardiac surgery. [ABSTRACT FROM AUTHOR]

Fetal critical aortic stenosis with evolving hypoplastic left heart syndrome (CAS-eHLHS) can progress to a univentricular (UV) birth malformation. Catheter-based fetal aortic valvuloplasty (FAV) can resolve stenosis and reduce the likelihood of malformation progression. However, we have limited understanding of the biomechanical impact of FAV and subsequent LV responses. Therefore, we performed image-based finite element (FE) modeling of 4 CAS-eHLHS fetal hearts, by performing iterative simulations to match image-based characteristics and then back-computing physiological parameters. We used pre-FAV simulations to conduct virtual FAV (vFAV) and compared pre-FAV and post-FAV simulations. vFAV simulations generally enabled partial restoration of several physiological features toward healthy levels, including increased stroke volume and myocardial strains, reduced aortic valve (AV) and mitral valve regurgitation (MVr) velocities, reduced LV and LA pressures, and reduced peak myofiber stress. FAV often leads to aortic valve regurgitation (AVr). Our simulations showed that AVr could compromise LV and LA depressurization but it could also significantly increase stroke volume and myocardial deformational stimuli. Post-FAV scans and simulations showed FAV enabled only partial reduction of the AV dissipative coefficient. Furthermore, LV contractility and peripheral vascular resistance could change in response to FAV, preventing decreases in AV velocity and LV pressure, compared with what would be anticipated from stenosis relief. This suggested that case-specific post-FAV modeling is required to fully capture cardiac functionality. Overall, image-based FE modeling could provide mechanistic details of the effects of FAV, but computational prediction of acute outcomes was difficult due to a patient-dependent physiological response to FAV. [ABSTRACT FROM AUTHOR]

Advances in fetal cardiac imaging over the last few decades have allowed for increased prenatal detection and detailed counseling of congenital heart disease (CHD). When CHD is detected, fetal cardiologists are faced with the challenge of providing nuanced prenatal counseling. Studies in other specialties have shown that differences in physician attitudes exist around termination of pregnancy and correlate with variations in the counseling provided to parents. We conducted an anonymous cross-sectional survey of fetal cardiologists in New England (n = 36) regarding attitudes toward termination of pregnancy and the counseling provided to parents with a fetal diagnosis of hypoplastic left heart syndrome. Using a screening questionnaire, there was no significant difference in the counseling provided to parents regardless of the physician's personal or professional views on termination of pregnancy, age, gender, location, type of practice, or years of experience. There were, however, differences among physicians on reasons to consider termination and their perceived professional responsibility to the fetus or mother. Further investigation on a larger geographic scale may reveal additional insights on variations in physician beliefs and whether such beliefs affect variability in counseling practices. [ABSTRACT FROM AUTHOR]

Despite recent advances, hypoplastic left heart syndrome (HLHS) patients subsequent to the Fontan still have significant morbidity and mortality. Some require heart transplant due to systemic ventricular dysfunction. Limited data exist on timing for transplant referral. This study aims to correlate systemic ventricular strain by echocardiography to transplant-free survival. HLHS patients who had Fontan palliation at our institution were included. Patients were divided into: 1) Required transplant or experienced mortality (composite end point); 2) Did not require transplant or survived. For those who experienced the composite endpoint, the last echocardiogram prior to the composite outcome was used, while for those who did not experience the composite endpoint the last echocardiogram obtained was used. Several qualitative and quantitative parameters were analyzed with focus on strain parameters. Ninety-five patients with HLHS Fontan palliation were identified. Sixty-six had adequate images and eight (12%) experienced transplant or mortality. These patients had greater myocardial performance index by flow Doppler (0.72 versus 0.53, p = 0.01), higher systolic/diastolic duration ratio (1.51 versus 1.13, p = 0.02), lower fractional area change (17.65 versus 33.99, p < 0.01), lower global longitudinal strain (GLS) (-8.63 versus − 17.99, p < 0.01), lower global longitudinal strain rate (GLSR) (− 0.51 versus − 0.93, p < 0.01), lower global circumferential strain (GCS) (-6.68 versus -18.25, p < 0.01), and lower (GCSR) global circumferential strain rate (-0.45 versus -1.01, p < 0.01). ROC analysis demonstrated predictive value for GLS − 7.6 (71% sensitive, 97% specific, AUC 81%), GLSR -0.58 (71% sensitive, 88% specific, AUC 82%), GCS − 10.0 (86% sensitive, 91% specific, AUC 82%), and GCSR -0.85 (100% sensitive, 71% specific, AUC 90%). GLS and GCS can help predict transplant-free survival in patients with hypoplastic left heart syndrome having undergone Fontan palliation. Higher strain values (closer to zero) may be a helpful tool in determining when transplant evaluation is warranted in these patients. [ABSTRACT FROM AUTHOR]

Objectives: Hybrid stage I palliation has been used in many clinical scenarios including initial palliation in single ventricle heart disease, a bridge to biventricular repair, a bridge to transplant, and as a destination therapy. There is considerable hybrid stage I palliation practice variation, which we aimed to better understand in this study. Methods: Survey-based assessment of practice variation related to hybrid stage I palliation was sent to congenital heart centers across the United States and Canada. Results: Of the 106 centers surveyed, responses were received from 54 centers (50.9%). Of respondents, 45 centers perform hybrid stage I palliation. Centers most commonly (97.7%) perform hybrid stage I palliation on “high-risk” patients with single ventricle heart disease. Regarding the technical aspects of hybrid stage I palliation, most centers (95.3%) accomplish restrictive pulmonary blood flow using pulmonary artery bands and primarily use changes in oxygen saturation (34.1%) to identify appropriate restriction. Ductal stents are most often used (67.4%) to maintain ductal patency. Only 10 centers (23.3%) routinely enlarge the atrial septal defect. Indications for atrial septal defect intervention varied widely. Most centers (71.9%) discharge patients home to follow with a formal “interstage” program. Conclusions: There is significant variation in practice patterns for hybrid stage I palliation indications, technical aspects, and postoperative care. Therefore, generalizability of single-center studies on outcomes after hybrid stage I palliation is limited. Future multicenter studies are needed to best delineate which patients benefit most from hybrid stage I palliation and to further define optimal approaches to caring for these patients.

Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect (CHD) characterized by a spectrum of underdeveloped left-sided cardiac structures. It is a serious defect and warrants either 3-staged surgical palliation or a heart transplant. Despite numerous surgical advancements, long-term outcomes remain challenging and still have significant morbidity and mortality. There have been notable advancements in stem cell therapy for HLHS, including developments in diverse stem cell origins and methods of administration. Clinical trials have shown safety and potential benefits, including improved ventricular function, reduced heart failure, and fewer adverse events. Younger myocardium seems particularly receptive to stem cell signals, suggesting the importance of early intervention. This review explores the potential of emerging stem cell-based therapies as an adjunctive approach to improve the outcomes for HLHS patients.

Background: Hypoplastic left heart syndrome (HLHS) was one of the highest mortality congenital heart defects; however, children with HLHS are living longer with medical and technological advancements. This reality resulted in an increased need for primary palliative care. Nurses assume a direct role in providing care to this specific population. Methods: The literature review from PubMed and CINHAL included key terms primary palliative care, pediatric palliative care, pediatric cardiology, HLHS AND nursing care, the role of the pediatric nurse, and pediatric palliative care education. Articles focusing on children with HLHS, pediatric palliative care, the nursing role, pediatric palliative care education, and parental perspectives were included. Articles with a focus on adults with congenital heart disease were excluded. Results: Thirty-three sources were selected for the final review. Palliative care has grown, specializing in children's care. Cardiology providers could improve upon integrating primary palliative care into practice compared to other pediatric specialties. This integration would enhance the quality of life for children with HLHS. Nurses who work with this population are essential in providing this type of care, and require proper education and training. Discussion: After reviewing the articles, it was evident that the nurse's role is crucial in providing primary palliative care to children with HLHS to maintain their quality of life. However, a gap in the literature exists, warranting further research on this topic. Findings in this article suggest that conducting and implementing research and relevant education might provide a better understanding of primary palliative care and its impact on children with HLHS. [ABSTRACT FROM AUTHOR]

Introduction: Evaluation of demographic characteristics and postnatal outcomes of fetuses with cavum septum pellucidum et vergae (CSPV) diagnosis followed in a tertiary center. Methods: This retrospective study was conducted in Ankara Bilkent City Hospital perinatology clinic between 2020-2023. Cases with the prenatal diagnosis of CSPV were evaluated. Demographic features, prenatal ultrasound findings, noninvasive screening test results, invasive diagnostic test results, prenatal anomaly screening ultrasound findings, and postnatal outcomes were reported. Results: There was a total of 24 prenatally diagnosed CSPV cases during the study period. The mean gestational week at diagnosis was 25.6 ± 3.2 weeks. Nineteen patients participated in noninvasive screening tests; five patients declined them. Noninvasive screening tests revealed low risk in 17 patients and high risk in 2. Amniocentesis was performed in 5 patients; 3 of them had a normal karyotype, 1 fetus was diagnosed with Smith-Lemli-Opitz syndrome, and 1 fetus had trisomy 21. Six patients with isolated CSPV were accepted and underwent fetal MRI, other eighteen patients refused MRI. MRI corrected the CSPV in all six patients, and they had no additional findings. Five (%21) fetuses were admitted to the intensive care unit because of recurrent absence convulsions (n=1), anal atresia (n=1), cleft lip palate (n=1), respiratory distress (n=1) and hypoplastic left heart syndrome (n=1). Conclusion: CSPV is considered a normal variant of cavum septum pellucidum and can be diagnosed during ultrasound screening for fetal anomalies; in isolated cases perinatal outcomes are favorable. [ABSTRACT FROM AUTHOR]

Background An atrioventricular node (AVN) ablation and permanent pacing have been previously reported as effective treatments for patients with atrial tachyarrhythmias. However single-ventricle patients requiring chronic ventricular pacing are at a higher risk of developing ventricular dysfunction and atrioventricular valve regurgitation. We report a case of successful AVN ablation in a 3-month-old infant with hypoplastic left heart syndrome and ectopic atrial tachycardia (EAT). Case summary A boy with hypoplastic left heart syndrome who had a refractory EAT resistant to various medications. At 2 months old, we performed an urgent radiofrequency (RF) catheter ablation of the EAT and the applications delivered at the cavo-atrial junction. Although it disappeared after the first catheter ablation for 2 weeks, it recurred on the next day after the diaphragm plication. At 3 months old and weighed 3.1 kg, we decided to perform an urgent AVN ablation of the EAT. The application was performed on the mid-septum of the tricuspid septum. A permanent pacemaker was implanted after the ablation. After the AVN ablation, the haemodynamics stabilized during the EAT. However, he died from a bacteraemia infection at 4 months. Discussion This patient received an AVN ablation due to failure to previous RF catheter ablation and was haemodynamically stable with the dual-chamber pacemaker. The AV block was successfully created by RF energy on the mid-septum of the tricuspid annulus in this hypoplastic left heart syndrome patient. Pathological findings exhibited that the compact AVN was totally ablated without damage to the tricuspid leaflets or coronary artery. [ABSTRACT FROM AUTHOR]

The diagnosis of cancer or cardiac abnormalities in infants is often associated with prolonged hospitalization, which can negatively impact caregiver-child bonding due to separation, medical stressors, and changes in the caregiving role. The purpose of this study was to pilot an interdisciplinary psychosocial intervention including songwriting, an expressive journal and activity book, and a bonding assessment. Interventions were facilitated by a board-certified music therapist and Certified Child Life Specialist. A total of 15 families completed the pretest, four intervention sessions, and post intervention test. Quantitative data suggest increased caregiver–child bonding and increased caregiver confidence. Caregivers reported high levels of satisfaction with the intervention in qualitative responses. In summary, results from this pilot study lay the groundwork for a future larger-scale evaluation. [ABSTRACT FROM AUTHOR]

Background: The atrium augments ventricular function, but the significance of atrial function in hypoplastic left heart syndrome (HLHS) has not been well evaluated. Objective: We investigated the association of atrial reservoir strain (common atrial strain [CAS]) to death or need for transplantation in patients with HLHS. Methods: In this retrospective single‐center study, echocardiograms from three timepoints (pre‐stage 1 palliation [S1P], 4–8 weeks post‐S1P, and pre‐Glenn) were analyzed in infants with classic HLHS. Patients were separated based on transplant‐free survival to Fontan (survivors) versus death or heart transplant prior to Fontan (composite outcome). Echocardiographic parameters evaluated included CAS, right ventricle (RV) global longitudinal strain (RVGLS), RV fractional area change (FAC), and tricuspid annular plane systolic excursion (TAPSE). An equal variance t‐test, regression, and receiver operating characteristic (ROC) analyses were performed. Results: A total of 45 HLHS patients (25 survivors, 20 patients meeting endpoint) were included in this study. There were no significant differences in any of the functional parameters during the pre‐stage 1 or post‐stage 1 timepoints. Pre‐Glenn CAS and RVGLS were significantly worse in those meeting composite endpoint compared to survivors. CAS was significantly correlated to RVGLS during the pre‐S1P and pre‐Glenn timepoints. A pre‐Glenn CAS < 19.5 had an area under the curve of.78 and a 75% sensitivity and 83% specificity for death or need for transplantation. Conclusion: Pre‐Glenn CAS is significantly lower in patients with mortality or need for the transplantation prior to Fontan completion and may carry prognostic significance in patients with HLHS. [ABSTRACT FROM AUTHOR]

Background: Critical aortic stenosis (AS) in fetuses may progress to hypoplastic left heart syndrome (HLHS) with need for postnatal single ventricular (SV) palliation. Fetal aortic valvuloplasty (FAV) is performed to achieve postnatal biventricular (BV) circulation. However, the impact of FAV on fetal myocardial function is difficult to measure. Prediction of postnatal circulatory status and, therefore, counseling is challenging. Methods: Retrospective study of fetuses with critical AS who underwent FAV. Global Longitudinal Peak Systolic Strain (GLPSS) of the left ventricle (LV) and right ventricle (RV) were retrospectively analyzed before and after intervention. Fisher's Exact Test and Mann–Whitney-U Test were used for univariant statistical analysis. Results: 23 fetuses with critical AS were included. After intervention fetuses demonstrated more negative LV-GLPSS mean values post- vs. pre-intervention (− 5.36% vs. − 1.57%; p < 0.05). RV-GLPSS was decreased in all fetuses, there was no peri-interventional change. 20 fetuses were born alive. Postnatally, 10 had BV and 10 SV circulation. Improved post-interventional LV-GLPSS strain values correlated with BV outcome (p < 0.05). Pre-interventional continuous LV-GLPSS values correlated with postnatal SV vs. BV outcome (p < 0.05). Conclusion: In some fetuses, LV myocardial function assessed by speckle tracking echocardiography (STE) improves after FAV. Improved post-interventional LV-GLPSS correlates with biventricular postnatal outcome. Furthermore, pre-interventional LV- and RV-GLPSS correlate with postnatal outcome. Further studies are needed to asses, if pre-interventional STE parameters might predict which fetuses will benefit from FAV with postnatal BV circulation. [ABSTRACT FROM AUTHOR]

Congenital heart disease (CHD) represents a spectrum of inborn heart defects influenced by genetic and environmental factors. This study advances the field by analyzing gene expression profiles in 21,034 cardiac fibroblasts, 73,296 cardiomyocytes, and 35,673 endothelial cells, utilizing single-cell level analysis and machine learning techniques. Six CHD conditions: dilated cardiomyopathy (DCM), donor hearts (used as healthy controls), hypertrophic cardiomyopathy (HCM), heart failure with hypoplastic left heart syndrome (HF_HLHS), Neonatal Hypoplastic Left Heart Syndrome (Neo_HLHS), and Tetralogy of Fallot (TOF), were investigated for each cardiac cell type. Each cell sample was represented by 29,266 gene features. These features were first analyzed by six feature-ranking algorithms, resulting in several feature lists. Then, these lists were fed into incremental feature selection, containing two classification algorithms, to extract essential gene features and classification rules and build efficient classifiers. The identified essential genes can be potential CHD markers in different cardiac cell types. For instance, the LASSO identified key genes specific to various heart cell types in CHD subtypes. FOXO3 was found to be up-regulated in cardiac fibroblasts for both Dilated and hypertrophic cardiomyopathy. In cardiomyocytes, distinct genes such as TMTC1, ART3, ARHGAP24, SHROOM3, and XIST were linked to dilated cardiomyopathy, Neo-Hypoplastic Left Heart Syndrome, hypertrophic cardiomyopathy, HF-Hypoplastic Left Heart Syndrome, and Tetralogy of Fallot, respectively. Endothelial cell analysis further revealed COL25A1, NFIB, and KLF7 as significant genes for dilated cardiomyopathy, hypertrophic cardiomyopathy, and Tetralogy of Fallot. LightGBM, Catboost, MCFS, RF, and XGBoost further delineated key genes for specific CHD subtypes, demonstrating the efficacy of machine learning in identifying CHD-specific genes. Additionally, this study developed quantitative rules for representing the gene expression patterns related to CHDs. This research underscores the potential of machine learning in unraveling the molecular complexities of CHD and establishes a foundation for future mechanism-based studies. [ABSTRACT FROM AUTHOR]

Patients with heterotaxy syndrome and congenital heart disease (CHD) experience inferior cardiac surgical outcomes. Heart transplantation outcomes are understudied, however, particularly compared to non-CHD patients. Data from UNOS and PHIS were used to identify 4803 children (< 18 years) undergoing first-time heart transplant between 2003 and 2022 with diagnoses of heterotaxy (n = 278), other-CHD (n = 2236), and non-CHD cardiomyopathy (n = 2289). Heterotaxy patients were older (median 5 yr) and heavier (median 17 kg) at transplant than other-CHD (median 2 yr and 12 kg), and younger and lighter than cardiomyopathy (median 7 yr and 24 kg) (all p < 0.001). UNOS status 1A/1 at listing was not different between groups (65–67%; p = 0.683). At transplant, heterotaxy and other-CHD patients had similar rates of renal dysfunction (12 and 17%), inotropes (10% and 11%), and ventilator-dependence (19 and 18%). Compared to cardiomyopathy, heterotaxy patients had comparable renal dysfunction (9%, p = 0.058) and inotropes (46%, p = 0.097) but more hepatic dysfunction (17%, p < 0.001) and ventilator-dependence (12%, p = 0.003). Rates of ventricular assist device (VAD) were: heterotaxy-10%, other-CHD-11% (p = 0.839 vs. heterotaxy), cardiomyopathy-37% (p < 0.001 vs. heterotaxy). The 1-year incidence of acute rejection post-transplant was comparable between heterotaxy and others (p > 0.05). While overall post-transplant survival was significantly worse for heterotaxy than others (p < 0.05 vs. both), conditional 1-year survival was comparable (p > 0.3 vs. both). Children with heterotaxy syndrome experience inferior post-heart transplant survival, although early mortality appears to influence this trend, with 1-year survivors having equivalent outcomes. Given similar pre-transplant clinical status to others, heterotaxy patients are potentially under risk-stratified. Increased VAD utilization and pre-transplant end-organ function optimization may portend improved outcomes. [ABSTRACT FROM AUTHOR]

Treatment of infants with hypoplastic left heart syndrome (HLHS) remains challenging, and those affected remain with significant risks for mortality and morbidity throughout their lifetimes. The maternal–fetal environment (MFE) has been shown to affect outcomes for infants with HLHS after the Norwood procedure. The hybrid procedure, comprised of both catheterization and surgical components, is a less invasive option for initial intervention compared to the Norwood procedure. It is unknown how the MFE impacts outcomes following the hybrid procedure. This is a single-center, retrospective study of infants born with HLHS who underwent hybrid palliation from January 2009 to August 2021. Predictor variables analyzed included fetal, maternal, and postnatal factors. The primary outcome was mortality prior to Stage II palliation. We studied a 144-subject cohort. There was a statistically significant difference in mortality prior to stage II palliation in infants with prematurity, small for gestational age, and aortic atresia subtype (p < 0.001, p = 0.009, and p = 0.008, respectively). There was no difference in mortality associated with maternal diabetes, hypertension, obesity, smoking or illicit drug use, or advanced maternal age. State and national area deprivation index scores were associated with increased risk of mortality in the entire cohort, such that infants born in areas with higher deprivation had a higher incidence of mortality. Several markers of an impaired MFE, including prematurity, small for gestational age, and higher deprivation index scores, are associated with mortality following hybrid palliation. Individual maternal comorbidities were not associated with higher mortality. The MFE may be a target for prenatal counseling and future interventions to improve pregnancy and neonatal outcomes in this population. [ABSTRACT FROM AUTHOR]

Objective We aimed to analyze somatic growth of patients after total cavopulmonary connection (TCPC) as well as to identify factors influencing postoperative catch-up growth. Methods A total of 309 patients undergoing TCPC at 4 years old or less between 1994 and 2021 were included. Weight for age z-score (WAZ) and height for age-z-score (HAZ) at TCPC and at postoperative time between 1 and 3 years were calculated. Factors influencing somatic growth were analyzed. Results Most frequent diagnosis and initial palliation were hypoplastic left heart syndrome (HLHS) (34%) and the Norwood procedure (51%), respectively. Median age and weight at TCPC were 2.0 (IQR: 1.7–2.5) years and 11.3 (10.5–12.7) kg, respectively. Median 519 days after TCPC, a significant increase in WAZ (−0.4 to −0.2, p < 0.001) was observed, but not in HAZ (−0.6 to −0.6, p = 0.38). Older age at TCPC (p < 0.001, odds ratio [OR]: 2.6) and HLHS (p = 0.007, OR: 2.2) were risks for low WAZ after TCPC. Older age at TCPC (p = 0.009, OR: 1.9) and previous Norwood procedure (p = 0.021, OR: 2.0) were risks for low HAZ after TCPC. Previous bidirectional cavopulmonary shunt (BCPS) was a protective factor for both WAZ (p = 0.012, OR: 0.06) and HAZ (p = 0.028, OR: 0.30) at TCPC. Conclusion In patients undergoing TCPC at the age of 4 years or less, a significant catch-up growth was observed in WAZ after TCPC, but not in HAZ. Previous BCPS resulted to be a protective factor for a better somatic development at TCPC. HLHSs undergoing Norwood were considered as risks for somatic development after TCPC. [ABSTRACT FROM AUTHOR]

Objective: This study aims to evaluate the application value of contrast‐enhanced transthoracic echocardiography (cTEE) in the diagnosis of patent foramen ovale (PFO) under different states of stimulation, with the goal of enhancing the accuracy and efficiency of PFO diagnosis. Methods: This research consecutively enrolled patients suspected of having PFO from October 2022 to February 2024, presenting primary clinical symptoms such as unexplained syncope, headache, dizziness, and stroke. Patients underwent standard transthoracic echocardiography (TTE) and cTEE under three different states of stimulation (resting state, coughing, and Valsalva maneuver). Based on the presence of microbubbles in the left heart and their initial appearance time, patients were classified into PFO and control groups, with further diagnostic confirmation via transesophageal echocardiography (TEE) or foramen ovale closure procedures. Results: The study results revealed significant differences between the PFO and control groups regarding age (p = 0.034) and headache symptoms (p = 0.001). In the PFO group, TTE showed a higher positivity rate both at rest and during coughing, highlighting the association between PFO and specific clinical symptoms. The number of microbubbles observed during TTE increased significantly under various stimulation states, particularly during the Valsalva maneuver (p < 0.05). This increase became more pronounced as the duration of the maneuver was extended, underscoring the differential response of PFO patients under varied physiological testing conditions, especially during prolonged Valsalva maneuvers. Conclusion: The study confirms the significant value of cTEE in diagnosing PFO under different stimulation states, particularly emphasizing the application of the Valsalva maneuver to significantly improve the sensitivity and specificity of PFO detection. Thus, incorporating cTEE examinations under various stimulation states holds significant clinical importance for enhancing the accuracy and efficiency of PFO diagnosis. [ABSTRACT FROM AUTHOR]

Purposr: This study created 3D CFD models of the Norwood procedure for hypoplastic left heart syndrome (HLHS) using standard angiography and echocardiogram data to investigate the impact of shunt characteristics on pulmonary artery (PA) hemodynamics. Leveraging routine clinical data offers advantages such as availability and cost-effectiveness without subjecting patients to additional invasive procedures. Methods: Patient-specific geometries of the intrathoracic arteries of two Norwood patients were generated from biplane cineangiograms. "Virtual surgery" was then performed to simulate the hemodynamics of alternative PA shunt configurations, including shunt type (modified Blalock-Thomas-Taussig shunt (mBTTS) vs. right ventricle-to-pulmonary artery shunt (RVPAS)), shunt diameter, and pulmonary artery anastomosis angle. Left-right pulmonary flow differential, Qp/Qs, time-averaged wall shear stress (TAWSS), and oscillatory shear index (OSI) were evaluated. Results: There was strong agreement between clinically measured data and CFD model output throughout the patient-specific models. Geometries with a RVPAS tended toward more balanced left-right pulmonary flow, lower Qp/Qs, and greater TAWSS and OSI than models with a mBTTS. For both shunt types, larger shunts resulted in a higher Qp/Qs and higher TAWSS, with minimal effect on OSI. Low TAWSS areas correlated with regions of low flow and changing the PA-shunt anastomosis angle to face toward low TAWSS regions increased TAWSS. Conclusion: Excellent correlation between clinically measured and CFD model data shows that 3D CFD models of HLHS Norwood can be developed using standard angiography and echocardiographic data. The CFD analysis also revealed consistent changes in PA TAWSS, flow differential, and OSI as a function of shunt characteristics. [ABSTRACT FROM AUTHOR]

Background/Objectives: Hybrid palliation (HP) procedures for hypoplastic left heart syndrome (HLHS) are increasing. Our objective was to compare mortality and morbidity following HP and NP (Norwood palliation) procedures. Methods: Systematic review and meta-analysis of HLHS patients of peer-reviewed literature between 2000 and 2023. Mortality and/or heart transplantation in HP versus NP in the neonatal period, interstage period, and at 1, 3 and 5 years of age, and morbidity including completion of Stage II and Stage III palliation, unexpected interventions, pulmonary artery pressures, right ventricle function, neurodevelopmental outcomes and length of hospital stay were evaluated. Results: Twenty-one (meta-analysis: 16; qualitative synthesis: 5) studies evaluating 1182 HLHS patients included. HP patients had higher interstage mortality (RR = 1.61; 95% CI: 1.10–2.33; p = 0.01) and 1-year mortality (RR = 1.22; 95% CI: 1.03–1.43; p = 0.02) compared to NP patients without differences in 3- and 5-years mortality. HP procedure in high-risk HLHS patients had lower mortality (RR = 0.48; 95% CI: 0.27–0.87; p = 0.01) only in the neonatal period. HP patients underwent fewer Stage II (RR = 0.90; 95% CI: 0.81–1.00; p = 0.05) and Stage III palliation (RR = 0.78; 95% CI: 0.69–0.90; p < 0.01), had more unplanned interventions (RR = 3.38; 95% CI: 2.04–5.59; p < 0.01), and longer hospital stay after Stage I palliation (weighted mean difference = 12.88; 95% CI: 1.15–24.62; p = 0.03) compared to NP patients. Conclusions: Our study reveals that HP, compared to NP for HLHS, is associated with increased morbidity risk without an improved survival rate. [ABSTRACT FROM AUTHOR]