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Objectives: In this study, we aimed to compare infants with univentricular hearts who underwent an initial ductus stenting to those receiving a surgical systemic-to-pulmonary shunt (SPS)., Methods: All infants with univentricular heart and ductal-dependent pulmonary blood flow who underwent initial palliation with either a ductus stenting or a surgical SPS between 2009 and 2022 were reviewed. Outcomes were compared after ductus stenting or SPS including survival, probability of re-interventions and the probability to reach stage II palliations., Results: A total of 130 patients were evaluated, including 49 ductus stenting and 81 SPSs. The most frequent primary diagnosis was tricuspid atresia in 27, followed by pulmonary atresia with intact ventricular septum in 19 patients. There was comparable hospital mortality (2.0% stent vs 3.7% surgery, P = 0.91) between the groups, but shorter intensive care unit stay (median 1 vs 7 days, P < 0.01) and shorter hospital stay (median 7 vs 17 days, P < 0.01) were observed in patients with initial ductus stenting, compared to those with SPS. However, acute procedure-related complications were more frequently observed in patients with ductus stenting, compared with those with SPS (20.4 vs 6.2%, P = 0.01), and 10 patients needed a shunt procedure after the initial ductus stent. The cumulative incidence of reaching stage II was similar between ductus stenting and SPS (88.0 vs 90.6% at 12 months, P = 0.735). Pulmonary artery (PA) index (median 194 vs 219 mm2/m2, P = 0.93) at stage II was similar between patients with ductus stenting and SPS. However, the ratio of the left to the right PA index [0.69 (0.45-0.95) vs 0.86 (0.51-0.84), P = 0.015] was higher in patients who reached stage II with surgical shunt physiology, compared with patients with ductus stent physiology., Conclusions: After initial ductus stenting in infants with univentricular heart, survival is comparable and post-procedural recovery shorter, but more acute stent dysfunctions and lower development of left PA are observed, compared to acute shunt dysfunctions. The less invasive procedure and shorter hospital stay are at the expense of more stent reinterventions., (© The Author(s) 2024. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.)

Absent pulmonary valve with tricuspid atresia or tricuspid stenosis (APV-TA/TS) is an extremely rare congenital heart defect associated with significant morbidity and mortality. Compared to Tetralogy of Fallot with Absent Pulmonary Valve Syndrome, branch pulmonary arteries are not typically significantly dilated. We present the case of a newborn male prenatally diagnosed APV-TA with intact ventricular septum (IVS) and nearly discontinuous branch pulmonary arteries, the surgical strategy employed, and the salient hemodynamic factors considered in the medical decision-making., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Up until the mid-1900s, tricuspid atresia - a birth defect of the tricuspid valve, was once categorized as a "death sentence." The challenge of achieving positive health outcomes for affected patients was compounded by a hesitancy to operate on children. The main concern was safely administering anesthesia to young patients who were going through a strenuous operation that was often poorly tolerated. Despite these assumed limitations, Francis Fontan, a pediatric cardiothoracic surgeon at the Hospital of Tondu in Bordeaux, was able to redirect blood flow from the superior and inferior vena cava to the pulmonary arteries in 1971, which elucidated the process of advancing clinical practice in medicine. With the support of mentors and a firm belief in this new technique, Fontan pioneered his eponymous procedure and ultimately paved the way for modern cardiovascular surgical techniques that helped to prolong the life of those with single functioning ventricles. The aim of this study is to examine the genesis and the evolution of the Fontan procedure to elucidate the process of advancing clinical practice in medicine by utilizing personal interviews, Fontan's works, associated primary and secondary sources in the context of 20th century cardiothoracic surgery and innovations., Competing Interests: Declaration of conflicting interestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: This study aims to evaluate clinical outcomes and hemodynamic variables late after the Björk procedure, regarding the pulmonary flow pattern. Methods: Patients who survived more than 15 years after the Björk procedure were included and then divided into two groups according to their pulmonary flow pattern by pulsed-wave Doppler assessment of echocardiography: patients with pulsatile systolic pulmonary flow (Group P) and those without (Group N). Results: A total of 43 patients were identified, of whom 13 patients were divided into Group P and 30 in Group N. Median age at the Björk procedure was 5.7 (2.1-7.3) years, and median follow-up was 32 (28-36) years. Survival after 15 years was higher in Group P, compared with Group N (100% vs 76% at 30 years, P  = .045). Cardiac catheterization data demonstrated higher cardiac index in Group P patients compared with Group N patients (3.5 vs 2.8 L/m 2 , P  = .014). Cardiac magnetic resonance imaging study revealed that Group P patients had higher right ventricular end-diastolic volume index (96 vs 57 mL/m 2 , P  = .005), higher end-systolic volume index (49 vs 30 mL/m 2 , P  = .013) and higher right ventricular stroke volume index (48 vs 25 mL/m 2 , P  < .001), compared with Group N patients. Exercise capacity tests demonstrated that Group P patients showed a higher percent predicted peak oxygen consumption, compared with Group N patients (73 vs 58%, P  < .001). Conclusions: Late after the Björk procedure, patients with a pulsatile systolic pulmonary flow had a larger right ventricle and better exercise capacity compared with those without pulsatile systolic pulmonary flow., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

The process of valve formation is a complex process that involves intricate interplay between various pathways at precise times. Although we have not completely elucidated the molecular pathways that lead to normal valve formation, we have identified a few major players in this process. We are now able to implicate TGF-ß, BMP, and NOTCH as suspects in tricuspid atresia (TA), as well as their downstream targets: NKX2-5, TBX5, NFATC1, GATA4, and SOX9. We know that the TGF-ß and the BMP pathways converge on the SMAD4 molecule, and we believe that this molecule plays a very important role to tie both pathways to TA. Similarly, we look at the NOTCH pathway and identify the HEY2 as a potential link between this pathway and TA. Another transcription factor that has been implicated in TA is NFATC1. While several mouse models exist that include part of the TA abnormality as their phenotype, no true mouse model can be said to represent TA. Bridging this gap will surely shed light on this complex molecular pathway and allow for better understanding of the disease process., (© 2024. The Author(s), under exclusive license to Springer Nature Switzerland AG.)

The current surgical approach for patients with a single ventricle is the culmination of decades of dedicated research and groundbreaking innovation. From 1971 to the present day, a series of incremental advancements have significantly extended the life expectancy of these patients. Since the very beginning, Dr Guillermo Kreutzer and his team have pioneered different techniques with the ultimate goal of improving outcomes for these individuals. This is, narrated by him, the story of how it all began., Competing Interests: Declaration of Conflicting InterestsThe author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.

Background: Endocardial cushion tissue is primordia of the valves and septa of the adult heart, and its malformation causes various congenital heart diseases (CHDs). Tricuspid atresia (TA) is defined as congenital absence or agenesis of the tricuspid valve caused by endocardial cushion defects. However, little is known about what type of endocardial cushion defect causes TA., Results: Using three-dimensional volume rendering image analysis, we demonstrated morphological changes of endocardial cushion tissue in developing Hey2/Hrt2 KO mouse embryos that showed malformation of the tricuspid valve, which resembled human TA at neonatal period. In control embryos, atrioventricular (AV) endocardial cushion tissues showed rightward shift to form a tricuspid valve. However, the rightward shift of endocardial cushion tissue was disrupted in Hey2/Hrt2 KO embryos, leading to the misalignment of AV cushions. We also found that muscular tissue filled up the space between the right atrium and ventricle, resulting in the absence of the tricuspid valve. Moreover, analysis using tissue-specific conditional KO mice showed that HEY2/HRT2-expressing myocardium may physically regulate the AV shift., Conclusion: Disruption of rightward cushion movement is an initial cue of TA phenotype, and myocardial HEY2/HRT2 is necessary for the regulation of proper alignment of AV endocardial cushion tissue., (© 2023 American Association for Anatomy.)

Tricuspid atresia (TA) is a rare congenital heart condition that presents with a complete absence of the right atrioventricular valve. Because of the rarity of familial and/or isolated cases of TA, little is known about the potential genetic abnormalities contributing to this condition. Potential responsible chromosomal abnormalities were identified in exploratory studies and include deletions in 22q11, 4q31, 8p23, and 3p as well as trisomies 13 and 18. In parallel, potential culprit genes include the ZFPM2, HEY2, NFATC1, NKX2-5, MYH6, and KLF13 genes. The aim of this chapter is to expose the genetic components that are potentially involved in the pathogenesis of TA in humans. The large variability in phenotypes and genotypes among cases of TA suggests a genetic network that involves many components yet to be unraveled., (© 2024. The Author(s), under exclusive license to Springer Nature Switzerland AG.)

The necropsy of a 2-day-old Noma horse that died of weakness showed an enlarged cardiac base and a narrow cardiac apex, suggesting cardiac malformation. The excised heart underwent imaging to investigate its luminal structure. On three-dimensional magnetic resonance imaging, the right atrium and right ventricle were discontinuous. The right atrium communicated with the left atrium and the left ventricle communicated with the right ventricle. The lumen narrowed near the pulmonary artery valve. Since the same findings were observed on gross examination, the foal was diagnosed with tricuspid atresia with ventricular and atrial septal defects, along with subvalvular pulmonic stenosis., Competing Interests: The authors have no conflicts of interest to disclose., (©2023 The Japanese Society of Equine Science.)

Complex congenital heart disease (CHD) in each of dichorionic diamniotic (DiDi) twin pairs is extremely rare and has not been well characterized. Four DiDi twin pairs were included in this multi-institutional case series. The congenital cardiac abnormalities noted included tetralogy of Fallot (ToF) with pulmonary atresia and collaterals (n = 1), ToF with absent pulmonary valve (n = 1), ToF (n = 2), discontinuous right pulmonary artery (RPA) (n = 1), tricuspid atresia (TA) with normally related great arteries and pulmonary valve stenosis or atresia (n = 2) and coarctation of aorta (CoA) with bicuspid aortic valve (BAV) and borderline left-sided structures (n = 1). Genetic testing was obtained on seven of the eight twins but did not reveal any causal abnormality. A comprehensive review of literature yielded another 8 DiDi twin pairs with complex CHD. The CHD noted in these twin pairs included ToF (n = 2), CoA (n = 4), corrected transposition of great arteries (ccTGA) (n = 2), truncus arteriosus (n = 2), complete common atrioventricular canal (CCAVC) (n = 2), hypoplastic left heart syndrome (HLHS) (n = 2), Shone's complex (n = 1), and hypoplastic right heart syndrome (HRHS) (n = 1). Limited genetic testing was obtained on 4 of these twins and revealed trisomy 21 in a twin pair. Conotruncal abnormalities (42%), CoA (21%), and abnormalities of the right ventricle, the right ventricular outflow tract and pulmonary arteries (17%) are more prevalent in DiDi twins with complex CHD. Clustering of these abnormalities suggests a possible genetic basis; however, genetic testing was obtained on eleven of the twins, and except for trisomy 21 in a twin pair both of whom had CCAVC, did not reveal any causal abnormality. A major direct genetic contribution is therefore unlikely and like other CHD, the underlying etiopathological basis is likely multifactorial., (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Background and Hypotheses: High venous pressures and associated hepatic congestion are important drivers for Fontan-associated liver disease. The prognostic significance of hepatomegaly as a marker of congestion however is not well defined and is further explored in this research study., Methods: Fontan patients who have had liver ultrasound scans were identified from the Prince Sultan Cardiac Centre Fontan Database and had their anatomic, surgical, clinical histories abstracted from the electronic medical records following institutional ethics approval. Liver volumes were determined retrospectively from reviewing individual US images, and these, divided into tertiles, were analysed in the context of the predefined endpoints of (i) Primary - death or heart or liver transplantation, or (ii) Secondary - combined endpoint of death, transplantation, arrhythmia, or protein-losing enteropathy., Results: Mean indexed liver volumes for the entire cohort (n = 199) were 1065.1 ± 312.1 ml/m 2 , range 387 to 2071 ml/m 2 . Patients with the largest liver volumes (highest tertile) were less likely to have a functioning fenestration compared to those in the lowest tertile 44% versus 56% p = 0.016 and experienced the highest burden of mortality and heart or heart-liver transplantation, p = 0.016, and were more likely to reach the composite endpoint of death, protein-losing enteropathy, arrhythmia, or transplantation, p = 0.010. Liver volumes had an overall predictive accuracy for the combined outcome of 61% (CI 53%, 67%, p = 0.009)., Conclusions: Liver volumetry may serve as a potentially important congestion biomarker for adverse outcomes after the Fontan operation.

Introduction: Congenital heart diseases (CHDs) are one of the most common birth defects worldwide with a prevalence of 1%. CHDs can be classified into cyanotic and acyanotic diseases based on the presence or absence of the characteristic bluish discoloration of skin and mucus membranes. A subset of cyanotic diseases is single ventricle malformations. This group of disorders comprises 1% of all CHDs. A remarkable yet rare and underreported entity of single ventricle malformations is combined tricuspid atresia (TA) and atrioventricular (AV) septal defect which is characterized by the anatomical features of both entities. Combined TA-AV septal malformation was first anatomically described in 1953 and further explored through echocardiography and cardiac catheterization in 1987 and then 1991. Since then, no studies have been documented in the literature prompting us to share our findings., Methods: Herein we are describing a rare and underreported cardiac lesion based of a retrospective revision of medical charts at the American University of Beirut Medical Center (AUBMC) Children's Heart Center, a tertiary medical center in the Middle East RESULTS: Out of 200 cases with confirmed single ventricle physiology, we identified a few patients with characteristics of combined TA-AV septal defect. Our patients exhibited characteristic echocardiographic findings of primum ASD, VSD, atretic RAVV, and clefted LAVV., Conclusion: In short, TA-AV septal defect is a rare, underreported congenital malformation. Tracking our patients' clinical profiles will help improve our understanding of the prognosis of this entity. Our findings may also improve treatment modalities since replacing the left-sided valve is often overlooked if the defect is inaccurately diagnosed. In addition, such findings can help shed light on the embryological development of the rarely encountered variation of AV septal malformation., (© 2023 Wiley Periodicals LLC.)

Competing Interests: Disclosures of conflicts of interest: D.I.K.T. No relevant relationships. J.L.S. No relevant relationships. M.R.M.J. No relevant relationships. M.J.S. No relevant relationships.

Objectives: Long-term survival is an important metric for health care evaluation, especially in functionally single-ventricle (f-SV) congenital heart disease (CHD). This study's aim was to evaluate the relationship between center volume and long-term survival in f-SV CHD within the centralized health care service of England and Wales., Methods: This was a retrospective cohort study of children born with f-SV CHD between 2000 and 2018, using the national CHD procedure registry, with survival ascertained in 2020., Results: Of 56,039 patients, 3293 (5.9%) had f-SV CHD. Median age at first intervention was 7 days (interquartile range [IQR], 4, 27), and median follow-up time was 7.6 years (IQR, 1.0, 13.3). The largest diagnostic subcategories were hypoplastic left heart syndrome, 1276 (38.8%); tricuspid atresia, 440 (13.4%); and double-inlet left ventricle, 322 (9.8%). The survival rate at 1 year and 5 years was 76.8% (95% confidence interval [CI], 75.3%-78.2%) and 72.1% (95% CI, 70.6%-73.7%), respectively. The unadjusted hazard ratio for each 5 additional patients with f-SV starting treatment per center per year was 1.04 (95% CI, 1.02-1.06), P < .001. However, after adjustment for significant risk factors (diagnostic subcategory; antenatal diagnosis; younger age, low weight, acquired comorbidity, increased severity of illness at first procedure), the hazard ratio for f-SV center volume was 1.01 (95% CI, 0.99-1.04) P = .28. There was strong evidence that patients with more complex f-SV (hypoplastic left heart syndrome, Norwood pathway) were treated at centers with greater f-SV case volume (P < .001)., Conclusions: After adjustment for case mix, there was no evidence that f-SV center volume was linked to longer-term survival in the centralized health service provided by the 10 children's cardiac centers in England and Wales., (Copyright © 2022 The Authors. Published by Elsevier Inc. All rights reserved.)

Objective: Patients with complex single-ventricle anatomy with transposed great arteries and systemic outflow obstruction (SV-TGA-SOO) undergo varied initial palliation with ultimate goal of Fontan circulation. We examine a longitudinal experience with multiple techniques, including the largest published cohort following palliative arterial switch operation (pASO), to describe outcomes and decision-making factors., Methods: Neonates with SV-TGA-SOO who underwent initial surgical palliation from 1995 to 2022 at a single institution were retrospectively reviewed., Results: In total, 71 neonates with SV-TGA-SOO underwent index surgical palliation at a median age of 7 days (interquartile range, 6-10) by pASO (n = 23), pulmonary artery band (PAB) with or without arch repair (n = 25), or modified Norwood with Damus-Kaye-Stansel aortopulmonary amalgamation (n = 23). Single-ventricle pathology included double-inlet left ventricle (n = 37, 52%), tricuspid atresia (n = 27, 38%), and others (n = 7, 10%). All mortalities (n = 5, 7%) occurred in the first interstage period after PAB (n = 3) and Norwood (n = 2). Subaortic obstruction in the PAB group was addressed by operative resection (n = 10 total, 7 at index operation) and/or delayed aortopulmonary amalgamation (n = 13, 52%). Two patients with pASO (9%) had early postoperative coronary complications, 1 requiring operative revision. Median follow-up for survivors was 10.4 years (interquartile range, 4.5-16.6 years). Comparing patients by their initial palliation type, notable significant differences included size of bulboventricular foramen, weight at initial operation, operation duration, postoperative length of stay, time to second-stage palliation, multiple pulmonary artery reinterventions, and left pulmonary artery interventions. There were no significant differences in overall survival, Fontan completion, reintervention-free survival in the first interstage period, pulmonary artery reintervention-free survival, long-term systemic valve competency, or ventricular dysfunction., Conclusions: Excellent mid- to long-term outcomes are achievable following neonatal palliation for SV-TGA-SOO via pASO, PAB, and modified Norwood, with comparable survival and Fontan completion. Initial palliation strategy should be individualized to optimize anatomy and physiology for successful Fontan by ensuring an unobstructed subaortic pathway and accessible pulmonary arteries. pASO is a reasonable strategy to consider for these heterogeneous lesions., (© 2023 The Author(s).)

We report a case of an adult male with Tricuspid atresia post Fontan shunt in whom a rare coronary anomaly was demonstrated on Computed Tomography angiography using endoluminal views and volume rendering techniques., Competing Interests: Conflict of interestThe authors declare no competing interests., (© Indian Association of Cardiovascular-Thoracic Surgeons 2022. Springer Nature or its licensor (e.g. a society or other partner) holds exclusive rights to this article under a publishing agreement with the author(s) or other rightsholder(s); author self-archiving of the accepted manuscript version of this article is solely governed by the terms of such publishing agreement and applicable law.)

Patients with single left ventricle (SLV) and tricuspid atresia (TA) have impaired systolic and diastolic function. However, there are few comparative studies among patients with SLV, TA and children without heart disease. The current study includes 15 children in each group. The parameters measured by two-dimensional echocardiography, three-dimensional speckle tracking echocardiography (3DSTE), and vortexes calculated by computational fluid dynamics were compared among these three groups. Twist is best correlated with ejection fraction measured by 3DSTE. Twist, torsion, apical rotation, average radial strain, peak velocity of systolic wave in left lateral wall by tissue Doppler imaging (sL), and myocardial performance index are better in the TA group than those in the SLV group. sL by tissue Doppler imaging in the TA group are even higher than those in the Control group. In patients with SLV, blood flow spreads out in a fan-shaped manner and forms two small vortices. In the TA group, the main vortex is similar to the one in a normal LV chamber, but smaller. The vortex rings during diastolic phase are incomplete in the SLV and TA groups. In summary, patients with SLV or TA have impaired systolic and diastolic function. Patients with SLV had poorer cardiac function than those with TA due to less compensation and more disordered streamline. Twist may be good indicator for LV function., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (© 2023 Chen, Wu, Zhao, Zhang, Liu, Hong, Zhong, Bao, Yang and Zhang.)

Background: The association of bulboventricular foramen (BVF) size and systemic outflow adequacy has been studied in patients with tricuspid atresia (TA) or double-inlet left ventricle (DILV) with transposed great arteries. The aim of this study was to determine the relationship between initial BVF size and risk for progressive pulmonary outflow obstruction requiring intervention to increase pulmonary blood flow in patients with TA or DILV with normally related great arteries., Methods: Patients with TA or DILV with normally related great arteries were identified by retrospective chart review at a single center from 2005 to 2021. Patients were stratified by indexed BVF area (iBVFA) to determine the relationship of iBVFA size and the need for intervention before the Glenn operation to establish supplemental pulmonary blood flow with either a Blalock-Taussig-Thomas shunt (BTTS) or patent ductus arteriosus (PDA) stent. Patients were followed through the time of their Glenn operations. Logistic regression analysis was performed to determine optimal iBVFA cut points., Results: Thirty-seven patients with TA or DILV with normally related great arteries were included. Sixteen had iBVFA < 1 cm 2 /m 2 , with all 16 (100%) requiring either a BTTS or PDA stent to increase pulmonary blood flow before the Glenn operation. Seventeen had iBVFAs of 1 to 2 cm 2 /m 2 , with 10 (59%) requiring either a BTTS or PDA stent. Nine of those 10 demonstrated flow acceleration across the BVF and/or pulmonary outflow tract. Four had iBVFA > 2 cm 2 /m 2 , with only one patient (25%) requiring a BTTS. Among our cohort, an iBVFA of <1.8 cm 2 /m 2 provided sensitivity of 96% with good positive and negative predictive values (81% and 80%, respectively) for requiring intervention with a BTTS or PDA stent before the Glenn operation., Conclusions: An iBVFA of ≤1.8 cm 2 /m 2 on initial postnatal echocardiography is associated with the development of subpulmonary obstruction requiring intervention with a BTTS or PDA stent before the Glenn operation, with the highest risk noted in those with iBVFA of ≤1 cm 2 /m 2 . Factors such as BVF flow acceleration or pulmonary outflow tract narrowing should also be considered in the decision to augment pulmonary blood flow., (Copyright © 2022 American Society of Echocardiography. Published by Elsevier Inc. All rights reserved.)

Introduction: Arsenic crosses the placenta and accumulates in fetal tissues. In the United States, diet is the predominant route of arsenic exposure, but epidemiologic data are sparse regarding this exposure and development of birth defects. Using data from a large case-control study, we explored associations between maternal dietary arsenic exposure and congenital heart defects (CHDs), the most prevalent birth defects., Methods: We used maternal self-reported dietary assessments and arsenic concentration estimates in food items to estimate average daily exposure to dietary arsenic during the year before pregnancy for mothers of 10,446 unaffected control children and 6,483 case children diagnosed with CHDs. Using tertiles of dietary exposure to total arsenic (all species) and inorganic arsenic, we applied logistic regression analysis to estimate associations for middle and high tertiles, compared with the low tertile., Results: Positive associations (odds ratio [OR] ≥ 1.2) for total arsenic were observed in both tertiles for perimembranous ventricular septal defect (VSD) and high tertile only for double outlet right ventricle-transposition of the great arteries (DORV-TGA), partial anomalous pulmonary venous return (PAPVR), and tricuspid atresia. Positive associations were also observed in both tertiles (tricuspid atresia) and high tertile only (DORV-TGA, conoventricular VSD, PAPVR, and pulmonary atresia) for inorganic arsenic. Most remaining associations were near or below unity., Discussion: Exploration of maternal dietary exposure to total and inorganic arsenic and CHDs produced few positive associations but was limited by available food item concentrations. Future research requires expanded collection of dietary data, improved estimates of concentrations, and consideration of nondietary sources of arsenic exposure., (© 2022 The Authors. Birth Defects Research published by Wiley Periodicals LLC.)

Objective: To review the imaging characteristics and evaluate the diagnostic value of echocardiography for fetal congenitally unguarded tricuspid valve orifice (CUTVO)., Methods: Doppler echocardiography was performed and the images were compared with operative and necropsy findings in ten fetuses with CUTVO. The aim of the study was to summarize the characteristics of fetal echocardiography and analyze the causes of missed diagnoses and misdiagnoses., Results: There were six cases with complete absence (60%) and four cases with partial absence of the tricuspid leaflet (40%). Among all cases, six cases were consistent with the ultrasonic diagnosis. CUTVO ultrasonographic characteristics consist of the atrioventricular connection with normal arteries and the tricuspid valve device partially or completely absent. The annulus of the tricuspid valve can be described as "empty" in the apical four-chamber view, Doppler evaluation shows to-and-fro flow across the tricuspid orifice with low velocity and two-way spectrum., Conclusion: Fetal echocardiography can accurately diagnose CUTVO, but missed diagnosis and misdiagnosis should be reduced., (© 2022 Wiley Periodicals LLC.)

Background: The horseshoe lung is a congenital malformation in which the bases of the right and the left lung are fused. Case report: We describe a monochorionic twin gestation with malformation discordance. The abnormal twin had a horseshoe lung with hypoplasia of the right lung, tricuspid atresia, cleft lip, and a pelvic right kidney. Conclusion: The discordance of anomalies in this monochorionic twin suggests that a postzygotic mutation, epigenetic change, or environmental factors may be responsible for these malformations.

Juxtaposition of the atrial appendages is known to occur in specific congenital heart lesions. Recognition of these variants is critical in balloon atrial septostomy and atrial switch operations. There remains little clinical data on the prevalence and associations of these lesions. This is the largest echocardiographic study of juxtaposition of the atrial appendages. This is a retrospective study using the Mt. Sinai echocardiogram database (EchoLAN), which contains echocardiogram reports performed or reviewed at Mt. Sinai Hospital (New York, NY) between 1992 and 2019. Each report was reviewed for associated intracardiac and extracardiac anomalies and the prevalence of juxtaposed atrial appendage among specific diagnosis, including tricuspid atresia, transposition of the great arteries, and double outlet right ventricle, was calculated. Descriptive and analytical statistics were performed as applicable, including Fisher's exact test, with p value < 0.05 considered statistically significant. Forty-nine patients had juxtaposed atrial appendages (1.2/1000 patients): Thirty-eight had LJRAA (0.9 per 1000 patients) and eleven had RJLAA (0.3 per 1000 patients). LJRAA was seen in 22% of tricuspid atresia, 6% of d-TGA, 1% of l-TGA, and 5% of DORV. RJLAA was seen in 2% of DORV, and none of the other lesions. Of associated lesions, dextrocardia, mesocardia, transposition, tricuspid atresia, double inlet left ventricle, and pulmonary valve stenosis were more likely to be present in LJRAA, while bicuspid aortic valve and left ventricular hypoplasia were more likely to be present in RJLAA. This study reaffirms our understanding of juxtaposition of the atrial appendages, its prevalence, and clinical importance., (© 2022. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Combined tricuspid atresia and absent pulmonary valve with dysplasia of the right ventricular myocardium is a very rare congenital heart anomaly with a poor prognosis. We present three cases of this rare disease that reached the Fontan operation without prior surgical intervention of the right ventricle or pulmonary artery; no right ventriclar dilation was detected. All patients had uneventful post-operative courses.

Aim: To evaluate the morphology and associated cardiovascular abnormalities in patients with juxtaposition of atrial appendages (JAA) on multidetector computed tomography (MDCT) angiography., Materials and Methods: We performed the retrospective study at a tertiary referral center to identify patients diagnosed with JAA on MDCT angiography using dual-source CT scanner between January 2014 and April 2021. The various imaging abnormalities evaluated included the type of JAA, morphological and positional classification of JAA, atrial situs, cardiac position, atrioventricular and ventriculoarterial connections, great vessel relationship, and other associated cardiovascular anomalies., Results: We identified 129 patients with JAA. Left-sided juxtaposition was seen in 124 (96.1%) patients while right-sided juxtaposition was seen in 5 (3.9%) patients. Among patients with left-sided juxtaposition, frequent cardiovascular associations included outflow tract malformations (100%), hypoplastic right ventricle (40.3%), tricuspid atresia (32.2%), and right-sided heart (19.4%). The most frequent outflow tract malformation was double outlet right ventricle (DORV; 60.5%) followed by transposition of great arteries (20.1%) and transposed aorta with pulmonary atresia (18.5%). In patients with right-sided juxtaposition, outflow tract malformation was seen in three (60%) patients with one (20%) patient each showing DORV, transposed aorta with pulmonary atresia, and tetralogy of Fallot, respectively., Conclusion: The identification of JAA on MDCT angiography suggests coexistence of various complex congenital heart diseases, especially outflow tract malformations. A meticulous search is imperative to identify this anomaly before interventional or surgical procedures to avoid complications., (© 2022 Wiley Periodicals LLC.)

Isoproterenol stress test during cardiac catheterization unmasked dynamic bulbo-ventricular foramen restriction in a 5-year-old boy with bidirectional Glenn anastomosis for tricuspid atresia/transposed great arteries and unexplained syncope., (© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

Objective: Tricuspid atresia with normally related great vessels (TA) is considered the optimal substrate for the Fontan pathway. The factors associated with death or transplantation after cavopulmonary shunt (CPS) are underappreciated. We aimed to determine factors associated with CPS-Fontan interstage death/transplantation versus transition to Fontan in TA., Methods: A total of 417 infants younger than 3 months of age with TA were enrolled (January 1999 to February 2020) from 40 institutions into the Congenital Heart Surgeons' Society TA cohort. Parametric competing risk methodology was used to determine factors associated with the competing end points of death/transplantation without Fontan completion, and transition to Fontan., Results: CPS was performed in 382 patients with TA; of those, 5% died or underwent transplantation without transition to Fontan and 91% transitioned to Fontan by 5 years after CPS. Prenatal diagnosis (hazard ratio [HR], 0.74; P < .001) and pulmonary artery band (PAB) at CPS (HR, 0.50; P < .001) were negatively associated with Fontan completion. Preoperative moderate or greater mitral valve regurgitation (HR, 3.0; P < .001), concomitant mitral valve repair (HR, 11.0; P < .001), PAB at CPS (HR, 3.0; P < .001), postoperative superior vena cava interventions (HR, 9.0; P < .001), and CPS takedown (HR, 40.0; P < .001) were associated with death/transplantation., Conclusions: The mortality rate after CPS in patients with TA is notable. Those with preoperative mitral valve regurgitation remain a high-risk group. PAB at the time of CPS being associated with both increased risk of death and decreased Fontan completion may represent a deleterious effect of antegrade pulmonary blood flow in the CPS circulation., (Copyright © 2021 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.)

Background: Despite developments in surgical techniques and medical care, people with a Fontan circulation still experience long-term complications; non-invasive therapies to optimize the circulation have not been established. Exercise intolerance affects the majority of the population and is associated with worse prognosis. Historically, people living with a Fontan circulation were advised to avoid physical activity, but a small number of heterogenous, predominantly uncontrolled studies have shown that exercise training is safe-and for unique reasons, may even be of heightened importance in the setting of Fontan physiology. The mechanisms underlying improvements in aerobic exercise capacity and the effects of exercise training on circulatory and end-organ function remain incompletely understood. Furthermore, the optimal methods of exercise prescription are poorly characterized. This highlights the need for large, well-designed, multi-center, randomized, controlled trials. Aims and Methods: The Fontan Fitness Intervention Trial (F-FIT)-a phase III clinical trial-aims to optimize exercise prescription and delivery in people with a Fontan circulation. In this multi-center, randomized, controlled study, eligible Fontan participants will be randomized to either a 4-month supervised aerobic and resistance exercise training program of moderate-to-vigorous intensity followed by an 8-month maintenance phase; or usual care (control group). Adolescent and adult (≥16 years) Fontan participants will be randomized to either traditional face-to-face exercise training, telehealth exercise training, or usual care in a three-arm trial with an allocation of 2:2:1 (traditional:telehealth:control). Children (<16 years) will be randomized to either a physical activity and exercise program of moderate-to-vigorous intensity or usual care in a two-arm trial with a 1:1 allocation. The primary outcome is a change in aerobic exercise capacity (peak oxygen uptake) at 4-months. Secondary outcomes include safety, and changes in cardiopulmonary exercise testing measures, peripheral venous pressure, respiratory muscle and lung function, body composition, liver stiffness, neuropsychological and neurocognitive function, physical activity levels, dietary and nutritional status, vascular function, neurohormonal activation, metabolites, cardiac function, quality of life, musculoskeletal fitness, and health care utilization. Outcome measures will be assessed at baseline, 4-months, and 12-months. This manuscript will describe the pathophysiology of exercise intolerance in the Fontan circulation and the rationale and protocol for the F-FIT., Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest., (Copyright © 2022 Tran, Gibson, Maiorana, Verrall, Baker, Clode, Lubans, Zannino, Bullock, Ferrie, Briody, Simm, Wijesekera, D'Almeida, Gosbell, Davis, Weintraub, Keech, Puranik, Ugander, Justo, Zentner, Majumdar, Grigg, Coombes, d'Udekem, Morris, Ayer, Celermajer and Cordina.)

Tricuspid atresia is a congenital malformation of the tricuspid valve resulting in a lack of blood flow between the right atrium and the right ventricle. Management generally involves staged surgical intervention enabling affected individuals to survive into adulthood. Although surgical intervention greatly improves morbidity and mortality in this patient population, there are many long-term complications associated with the creation of a surgical shunt. We report a case of a 33-year-old male with tricuspid atresia who underwent Fontan surgery as a child and presented to our hospital with acute liver failure.

Absent pulmonary valve (APV) syndrome with tricuspid atresia or tricuspid stenosis (TA/TS) is an extremely rare malformation recently reported as a variant of APV with intact ventricular septum (VS). The condition, however, has univentricular physiology and unique structural and clinical features. The purpose of this study was to update the current knowledge about this condition by describing long-term outcomes of three new cases and reviewing the available literatures. A systematic literature search was performed to collect clinical and anatomical data of APV with TA/TS. Institutional medical records were retrospectively reviewed to identify APV with TA/TS patients. In a total of 62 (59 reported and 3 new) cases, patent ductus arteriosus was present in 98% of APV patients with TA/TS. A large ventricular septal defect, dilatation of the pulmonary arteries, which is typically found in APV with tetralogy of Fallot, and respiratory distress at birth were rarely reported. Most of the recent cases were successfully managed by the Glenn or Fontan procedure. Coronary artery anomaly and ventricular arrhythmia were more frequently reported as the cause of death or severe neurological sequelae (9/16 and 3/8, respectively). Additional surgical intervention was required in the mid/long-term period in three cases due to left-ventricular outflow obstruction and in two due to aortic dilatation. The Fontan and Glenn procedures improved the survival in the last two decades. In addition to coronary artery anomaly and ventricular arrhythmia, left-ventricular outflow tract obstruction and aortic dilatation should be carefully monitored., (© 2021. Springer Japan KK, part of Springer Nature.)

Common arterial trunk (CAT) is a rare congenital heart disease that is commonly included into the spectrum of conotruncal heart defects. CAT is rarely associated with functionally univentricular hearts, and only few cases have been described so far. Here, we describe the anatomical characteristics of CAT associated with a univentricular heart diagnosed in children and fetuses referred to our institution, and we completed the anatomical description of this rare condition through an extensive review of the literature. The complete cohort ultimately gathered 32 cases described in the literature completed by seven cases from our unit (seven fetuses and one child). Four types of univentricular hearts associated with CAT were observed: tricuspid atresia or hypoplastic right ventricle in 16 cases, mitral atresia or hypoplastic left ventricle in 12 cases, double-inlet left ventricle in 2 cases, and unbalanced atrioventricular septal defect in 9 cases. Our study questions the diagnosis of CAT as the exclusive consequence of an anomaly of the wedging process, following the convergence between the embryonic atrioventricular canal and the common outflow tract. We confirm that some forms of CAT can be considered to be due to an arrest of cardiac development at the stages preceding the convergence.

Tricuspid atresia with pulmonary valve absence is a rare malformation characterized by left ventricular outflow obstruction due to asymmetrical ventricular septal hypertrophy and associated with a poor prognosis. Coexisting coronary-right ventricular fistula is rarely described. We encountered a case of tricuspid atresia with pulmonary valve absence coexisting coronary-right ventricle fistula that successfully underwent Fontan completion. Right ventricle dilatation due to coronary-right ventricle fistula was observed in addition to mass like ventricular septal hypertrophy protruding into the left ventricular outflow tract. Right ventricle reduction and prevention of progressive left ventricular outflow obstruction were achieved by closure of the coronary-right ventricle fistula closure and plication of the right ventricle with the bidirectional Glenn procedure., (© 2021. The Japanese Association for Thoracic Surgery.)

Background: Cardiac valvulogenesis is a highly conserved process among vertebrates and cause unidirectional flow of blood in the heart. It was precisely regulated by signal pathways such as VEGF, NOTCH, and WNT and transcriptional factors such as TWIST1, TBX20, NFATC1, and SOX9. Tricuspid atresia refers to morphological deficiency of the valve and confined right atrioventricular traffic due to tricuspid maldevelopment, and is one of the most common types of congenital valve defects., Methods: We recruited a healthy couple with two fetuses aborted due to tricuspid atresia and identified related gene mutations using whole-exome sequencing. We then discussed the pathogenic significance of this mutation by bioinformatic and functional analyses., Results: PROVEAN, PolyPhen, MutationTaster, and HOPE indicated the mutation could change the protein function and cause disease; Western blotting showed the expression of NFATC1 c.964G>A mutation was lower than the wild type. What's more, dual-luciferase reporter assay showed the transcriptional activity of NFATC1 was impact by mutation and the expression of downstream DEGS1 was influenced., Conclusion: Taken together, the c.964G>A mutation might be pathological and related to the occurrence of disease. Our research tended to deepen the understanding of etiology of tricuspid atresia and gene function of NFATC1, and provide some references or suggestions for genetic diagnosis of tricuspid atresia., (© 2021 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals LLC.)

Fontan palliation represents one of the most remarkable surgical advances in the management of individuals born with functionally univentricular physiology. The operation secures adult survival for all but a few with unfavourable anatomy and/or physiology. Inherent to the physiology is passive transpulmonary blood flow, which produces a vulnerability to adequate filling of the systemic ventricle at rest and during exertion. Similarly, the upstream effects of passive flow in the lungs are venous congestion and venous hypertension, especially marked during physical activity. The pulmonary vascular bed has emerged as a defining character on the stage of Fontan circulatory behaviour and clinical outcomes. Its pharmacologic regulation and anatomic rehabilitation therefore seem important strategic therapeutic targets. This review seeks to delineate the important aspects of pulmonary artery development and maturation in functionally univentricular physiology patients, pulmonary artery biology, pulmonary vascular reserve with exercise, and pulmonary artery morphologic and pharmacologic rehabilitation.

Background: The use of systemic-to-pulmonary shunts (SPS) in neonates with single ventricle heart defects and ductal-dependent pulmonary blood flow (ddPBF) was historically associated with high morbidity and mortality at our center. As a result, we transitioned to the preferential use of ductus arteriosus stents (DS) when feasible. This report describes our initial results with this strategy., Methods: A single-center study of single ventricle patients that received DS or SPS from 2015 to 2019 was performed to assess whether DS was associated with decreased in-hospital morbidity and increased survival to stage II palliation., Results: A total of 34 patients were included (DS = 11; SPS = 23). Underlying cardiac anomalies were similar between groups and included pulmonary atresia, unbalanced atrioventricular septal defect, and tricuspid atresia. Procedure success was similar between groups (82% vs 83%). Two DS patients were converted to SPS, due to ductal vasospasm or pulmonary artery obstruction, and four SPS patients required surgical shunt revision. In DS patients, postprocedure mechanical ventilation duration was shorter (one vs three days, P = .009) and fewer required postprocedure extracorporeal membrane oxygenation (9% vs 39%, P = .11). A higher proportion of DS patients survived to stage II palliation (100% vs 64%, P = .035), and the probability of one-year survival was higher in DS patients (100% vs 61%, P = .02)., Conclusions: At our center, patients with single ventricle heart defects and ddPBF that received DS experienced reduced in-hospital morbidity and increased survival to stage II palliation compared to SPS.

In this paper, the author enumerates cardiac defects with a functionally single ventricle, summarizes single ventricle physiology, presents a summary of management strategies to address the single ventricle defects, goes over the steps of staged total cavo-pulmonary connection, cites the prevalence of inter-stage mortality, names the causes of inter-stage mortality, discusses strategies to address the inter-stage mortality, reviews post-Fontan issues, and introduces alternative approaches to Fontan circulation.

Background: Fontan outcomes data from large volume Middle Eastern Centres are lacking. We report our experience after the Fontan operation from a tertiary cardiac centre in Saudi Arabia., Method: All 458 consecutive patients who had Fontan surgery 1986 through 2015 at the Prince Sultan Cardiac Centre, Riyadh [PSCC], Saudi Arabia, were evaluated for baseline, early and late post-operative outcomes and their uni and multivariate determinants., Results: The mean age at Fontan operation was 7 years [IQR 4.8-9.0]. The most common anatomic diagnoses were tricuspid atresia (104 [23%]) and double-inlet left ventricle (81 [18%]). Only 3 patients in the present series had hypoplastic left heart syndrome [HLHS]. Early mortality [i.e. during Fontan surgical admission] was 3.1%. At late follow-, 35 (8%) patients were lost to follow up. The 1, 5, 10, 20 and 30 year survival was 96%, 94%, 93% and 85%, respectively. In the modern surgical era, 5, 10 and 15 year survival were 96%, 95% and 93% respectively. Univariate determinants of death or transplant were hypoalbuminemia, elevated NtProBNP >500, surgical era prior to 1999, the lack of Fontan fenestration, and prior atriopulmonary Fontan [APF] procedure. On multivariate analysis, surgical era before 1999 and prior APF procedure were independently associated with death or transplant., Conclusions: Fontan patients from this large volume Middle Eastern centre have comparable early and late mortality outcomes compared to prior published reports. Rigorous selection criteria at the time of Fontan, and Fontan specific dedicated care teams are likely contributors to this success., Competing Interests: Declaration of Competing Interest The research has no conflict of interest and is not funded through any source., (Copyright © 2020 Elsevier B.V. All rights reserved.)