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Background: Persistent truncus arteriosus is a rare congenital cyanotic heart defect characterized by a single ventricular outflow tract. Without surgical intervention, it has a poor prognosis in infancy. Here, we report an adult female patient with uncorrected truncus arteriosus type I, who presented with acute-onset abdominal pain due to torsion of a small bowel gastrointestinal stromal tumor (GIST). Case Report: A 41-year-old woman came to our Emergency Department with acute-onset lower abdominal pain for 2 days. Congenital heart disease, truncus arteriosus, had been diagnosed at birth, and there had been no surgical intervention. Abdominal computed tomography revealed a 10×9×12-cm mixed-density mass in the pelvic capacity. Transthoracic echocardiography revealed a 33-mm ventricular septal defect. The ascending aorta originated mainly from the right ventricle, and the pulmonary artery originated from the beginning of the aorta (type I truncus arteriosus, according to Collett and Edwards classification). After a quick and detailed preoperative workup, the patient underwent tumor resection by open surgery with general anesthesia. Conclusions: This is the first case to report emergency surgery for a patient with uncorrected persistent truncus arteriosus due to torsion of a small bowel GIST. A multidisciplinary team with deep understanding of the disease entity was crucial. By considering the fixed hemodynamic and respiratory physiology, overtreatment and unrealistic goals were avoided. Eventually, the patient was discharged after being hospitalized for 2 weeks. [ABSTRACT FROM AUTHOR]

Persistent truncus arteriosus (TA) is a congenital heart disorder that is characterized by various anomalies that can be fatal without corrective medical intervention. Surgical techniques were initially developed to correct this condition in infants, consequently, this has led to a paucity of scientific research on adults with TA. In this case study, the authors examine TA in the heart of an adult. The specimen derives from the pathology museum from the Vernon-Roberts Museum of The University of Adelaide. Given the rarity of individuals surviving with TA into adulthood, more scientific attention needs to be invested in unique people with TA in order to provide a comprehensive understanding of this condition as well as adequate medical treatment and care. [ABSTRACT FROM AUTHOR]

Abstract Background Surgery for congenital heart disease has progressed by leaps and bounds in the last few decades, but the right ventricular outflow tract continues to pose a challenge to the congenital heart surgeon. Objectives We aim to describe the outcomes of patients with CHD who had surgical placement of right ventricle to pulmonary artery conduits with a focus on the risk factors for redo-surgery. Methods We performed a retrospective single-center clinical data review of patients who had RVOT surgery using RV-to-PA conduits Results Thirty-three patients (54.5% males) were included. The mean age at first conduit placement was 3.57 ± 3.18 years, mean conduit size conduit was 14.45 ± 3.85 mm. 51.5% of patients received Contegra tubes. On a mean follow-up of 2.07 ± 2.36 years, 45.5% of patients underwent RV-to-PA conduits redo replacement after 5.67 ± 3.25 years from the first surgery, 2 patients underwent re-intervention for the second time, 7 patients had transcatheter interventions on RVOT or branch PAs. The main mode of conduit failure was stenosis. The median survival without the need for surgical reintervention was 2.5 years for the non-contegra subgroup versus 3 years for the contegra subgroup (P = 0.59). we predicted that 100% of the study group would require redo surgery for conduit replacement within the first 11 years post-initial surgery. For every year of age increase at follow-up, the hazard ratio for redo surgery increases by a factor of 1.47. For every year of age increase at the time of first operation, the hazard ratio for redo surgery decreases by a factor of 0.7. Conclusions The use of conduits to treat the RV to PA discontinuity is a cornerstone in treating congenital heart diseases. Nevertheless, conduit failure and replacement are inevitable. In our experience the higher the age at the first conduit, the longer the re-intervention-free survival period.

Data regarding the effect of significant TVI on outcomes after truncus arteriosus (TA) repair are limited. The aim of this meta-analysis was to summarize outcomes among patients aged ≤ 24 months undergoing TA repair with at least moderate TVI. A systematic literature search was conducted in PubMed, Scopus, and CINAHL Complete from database inception through June 1, 2022. Studies reporting outcomes of TA repair in patients with moderate or greater TVI were included. Studies reporting outcomes only for patients aged > 24 months were excluded. The primary outcome was overall mortality, and secondary outcomes included early mortality and truncal valve reoperation. Random-effects models were used to estimate pooled effects. Assessment for bias was performed using funnel plots and Egger's tests. Twenty-two single-center observational studies were included for analysis, representing 1,172 patients. Of these, 232 (19.8%) had moderate or greater TVI. Meta-analysis demonstrated a pooled overall mortality of 28.0% after TA repair among patients with significant TVI with a relative risk of 1.70 (95% CI [1.27–2.28], p < 0.001) compared to patients without TVI. Significant TVI was also significantly associated with an increased risk for early mortality (RR 2.04; 95% CI [1.36–3.06], p < 0.001) and truncal valve reoperation (RR 3.90; 95% CI [1.40–10.90], p = 0.010). Moderate or greater TVI before TA repair is associated with an increased risk for mortality and truncal valve reoperation. Management of TVI in patients remains a challenging clinical problem. Further investigation is needed to assess the risk of concomitant truncal valve surgery with TA repair in this population. [ABSTRACT FROM AUTHOR]

Background: Surgery for congenital heart disease has progressed by leaps and bounds in the last few decades, but the right ventricular outflow tract continues to pose a challenge to the congenital heart surgeon. Objectives: We aim to describe the outcomes of patients with CHD who had surgical placement of right ventricle to pulmonary artery conduits with a focus on the risk factors for redo-surgery. Methods: We performed a retrospective single-center clinical data review of patients who had RVOT surgery using RV-to-PA conduits Results: Thirty-three patients (54.5% males) were included. The mean age at first conduit placement was 3.57 ± 3.18 years, mean conduit size conduit was 14.45 ± 3.85 mm. 51.5% of patients received Contegra tubes. On a mean follow-up of 2.07 ± 2.36 years, 45.5% of patients underwent RV-to-PA conduits redo replacement after 5.67 ± 3.25 years from the first surgery, 2 patients underwent re-intervention for the second time, 7 patients had transcatheter interventions on RVOT or branch PAs. The main mode of conduit failure was stenosis. The median survival without the need for surgical reintervention was 2.5 years for the non-contegra subgroup versus 3 years for the contegra subgroup (P = 0.59). we predicted that 100% of the study group would require redo surgery for conduit replacement within the first 11 years post-initial surgery. For every year of age increase at follow-up, the hazard ratio for redo surgery increases by a factor of 1.47. For every year of age increase at the time of first operation, the hazard ratio for redo surgery decreases by a factor of 0.7. Conclusions: The use of conduits to treat the RV to PA discontinuity is a cornerstone in treating congenital heart diseases. Nevertheless, conduit failure and replacement are inevitable. In our experience the higher the age at the first conduit, the longer the re-intervention-free survival period. [ABSTRACT FROM AUTHOR]

The ventricular papillary muscles (VPMs) can be a source of premature ventricular contractions (PVCs). Catheter ablation of VPM PVCs is challenging because of the anatomical complexity, such as the apical structures in proximity to the ventricular walls. The QDOT MICRO catheter (Biosense Webster, Diamond Bar, CA, USA) has microelectrodes embedded along the circumference of its distal tip and can provide information on which side of its tip myocardial activation is earlier. This repaired truncus arteriosus case demonstrates the usefulness of the microelectrode recording in identifying a PVC origin in a right VPM apex close to the right ventricular anterior wall. [ABSTRACT FROM AUTHOR]

Background: Neonatal truncal valve plasty remains a significant challenge. Several surgical techniques have been reported, but there is no standard procedure. We herein report a novel operative technique for the quadricuspid truncal valve with axisymmetric morphology. Case presentation: A 17-day-old neonate with severe truncal valve insufficiency developed persistent congestive heart failure and underwent urgent truncal valve plasty. The truncal valve was quadricuspid with four equal sinuses, and all four cusps were hypoplastic, resulting in a complete lack of coaptation. We performed bicuspidization valvuloplasty with leaflet reconstruction using autologous pericardium for this valve. The patient had an uneventful recovery and was free from recurrent truncal valve insufficiency for 10 months. Conclusions: Bicuspidization with leaflet reconstruction is a suitable surgical option for overcoming neonatal truncal valve insufficiency in cases with quadricuspid truncal valves with axisymmetric morphologies. Although the durability of a bicuspid neo-leaflet using glutaraldehyde-treated autologous pericardium is unknown, this technique is expected to postpone subsequent truncal valve replacement in such neonates. [ABSTRACT FROM AUTHOR]

Objective: To identify the late surgical outcomes of truncus arteriosus. Methods: Fifty consecutive patients with truncus arteriosus who underwent surgery between 1978 and 2020 at our institute were enrolled in this retrospective, single institutional cohort study. The primary outcome was death and reoperation. The secondary outcome was late clinical status, including exercise capacity. The peak oxygen uptake was measured by a ramp-like progressive exercise test on a treadmill. Results: Nine patients underwent palliative surgery, which resulted in 2 deaths. Forty-eight patients went on to truncus arteriosus repair, including 17 neonates (35.4%). The median age and body weight at repair were 92.5 days (interquartile range, 10-272 days) and 3.85 kg (interquartile range, 2.9-6.5 kg), respectively. The survival rate at 30 years was 68.5%. Significant truncal valve regurgitation (P = .030) was a risk factor for survival. Survival rates were similar between in the early 25 and late 25 patients (P = .452). The freedom from death or reoperation rate at 15 years was 35.8%. Significant truncal valve regurgitation was a risk factor (P = .001). The mean follow-up period in hospital survivors was 15.4 ± 12 years (maximum, 43 years). The peak oxygen uptake, which was performed in 12 long-term survivors at a median duration from repair of 19.7 years (interquartile range, 16.8-30.9 years), was 70.2% of predicted normal (interquartile range, 64.5%-80.4%). Conclusions: Truncal valve regurgitation was a risk factor for both survival and reoperation, thus improvement of truncal valve surgery is essential for better life prognosis and quality of life. Slightly reduced exercise tolerance was common in long-term survivors.

Congenital anomalies of the coronary arteries are rare. In this article, we reported a case of 6-month-old female who was brought with breathing difficulty and poor weight gain. Echocardiography was done which showed dextrocardia and truncus arteriosus. A cardiac computed tomography confirmed these findings and additionally revealed that the coronary arteries originated from a common vascular channel from the brachiocephalic artery. This is a very rare occurrence. To our knowledge, only a few such cases have been reported in the literature.

The article discusses the concept of partial heart transplantation as a new procedure to deliver growing heart valve substitutes. It explains that partial heart transplants differ from traditional heart transplants and homografts, offering potential benefits for treating heart defects with dysfunctional pulmonary valves. The transition from experimental research to innovative practice is highlighted, emphasizing the need for further clinical research to assess outcomes and optimize protocols for partial heart transplantation. The article also suggests future directions for expanding the clinical applications of partial heart transplantation beyond semilunar valve replacement. [Extracted from the article]

Truncus arteriosus (TA) is a rare congenital heart defect that can be prenatally detected by fetal echocardiography. However, prognostication and prenatal counseling focus primarily on surgical outcomes due to limited fetal and neonatal pre-surgical mortality data. We aimed to describe the incidence and identify predictors of pre-surgical mortality in prenatally detected TA. This two-center, retrospective cohort study included fetuses diagnosed with TA between 01/2010 and 04/2020. The primary outcome was pre-surgical mortality, defined by fetal or neonatal pre-surgical death or primary listing for transplantation prior to discharge. Univariable regression modeling, Chi-square tests, and t tests assessed for associations between prenatal clinical, demographic, and fetal echocardiographic (fetal-echo) variables and pre-surgical mortality. Of 23 pregnancies with prenatal diagnosis of TA, 4 (17%) were terminated. Of the remaining 19, pre-surgical mortality occurred in 4 (26%), including 2 (11%) fetal deaths and 2 (11%) neonatal pre-surgical deaths. No transplantation listings. Of liveborn fetuses (n = 17), 15 (88%) underwent a neonatal surgery, and 1 (6%) required ECMO. As compared to the survivors, the pre-surgical mortality group had a higher likelihood of having left ventricular dysfunction (0% vs. 40%; p = 0.01), right ventricular dysfunction (0% vs. 60%; p = 0.002), cardiovascular profile score < 7 (0% vs. 40%; p = 0.01), skin edema (0% vs. 40%; p = 0.01), and abnormal umbilical venous (UV) Doppler (0% vs. 60%; p = 0.002). The presence of truncal valve regurgitation or stenosis neared significance. In this cohort with prenatally diagnosed TA, there is significant pre-surgical mortality, including fetal death and neonatal pre-surgical death. Termination rate is also high. Fetal-echo variables associated with pre-surgical mortality in this cohort include ventricular dysfunction, low CVP, skin edema, and abnormal UV Doppler. Knowledge about prenatal risk factors for pre-surgical mortality may guide parental counseling and postnatal planning in prenatally diagnosed TA. [ABSTRACT FROM AUTHOR]

PHACES syndrome is a multiple congenital disorder with unknown etiology that is characterized by Posterior fossa anomalies, Hemangioma, Arterial lesions, Cardiac abnormalities/coarctation of the aorta, Eye anomalies, and Sternal cleft. Compound heterozygous or homozygous TMEM260 variants cause structural heart defects and renal anomalies syndrome (SHDRA). We describe a 10‐year‐old male patient with a PHACES‐like syndrome and TMEM260 compound heterozygous variants who demonstrated overlapping phenotypes between the two syndromes. He presented with truncus arteriosus, supraumbilical raphe, ophthalmological abnormality, vertebral abnormality, borderline intellectual disability, and hearing loss. He had normal serum creatinine. In proband exome sequencing, compound heterozygous TMEM260 variants (NM_017799.4 c.1617delG p.(Trp539Cysfs*9)/c.1858C > T p.(Gln620*)) were identified. Twelve patients have been reported with TMEM260‐related SHDRA: 10 had truncus arteriosus and 6 had renal failure. One previously reported patient had facial port wine nevus and another patient had supraumbilical raphe, which are the cardinal signs for PHACES syndrome. TMEM260‐related SHDRA could share overlapping clinical features with PHACES syndrome. This report expands the phenotypic spectrum of a TMEM260‐related disorder. [ABSTRACT FROM AUTHOR]

Pre-B cell leukemia factor 1 (PBX1) is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterized by multiple congenital defects including congenital heart disease (CHD). During analysis of a whole-exome-sequenced cohort of heterogeneous CHD patients, we identified a de novo missense variant, PBX1:c.551G>C p.R184P, in a patient with tetralogy of Fallot with absent pulmonary valve and extra-cardiac phenotypes. Functional analysis of this variant by creating a CRISPR-Cas9 gene-edited mouse model revealed multiple congenital anomalies. Congenital heart defects (persistent truncus arteriosus and ventricular septal defect), hypoplastic lungs, hypoplastic/ectopic kidneys, aplastic adrenal glands and spleen, as well as atretic trachea and palate defects were observed in the homozygous mutant embryos at multiple stages of development. We also observed developmental anomalies in a proportion of heterozygous embryos, suggestive of a dominant mode of inheritance. Analysis of gene expression and protein levels revealed that although Pbx1 transcripts are higher in homozygotes, amounts of PBX1 protein are significantly decreased. Here, we have presented the first functional model of a missense PBX1 variant and provided strong evidence that p.R184P is disease-causal. Our findings also expand the phenotypic spectrum associated with pathogenic PBX1 variants in both humans and mice.

Background: We investigated the long-term outcomes of truncus arteriosus repair at a single institution with a 30-year study period. Methods: Patients who underwent repair of truncus arteriosus between 1993 and 2022 were reviewed retrospectively. Factors associated with early mortality, overall attrition, and reintervention were identified using appropriate statistical methods. Results: In total, 42 patients were enrolled in this study. The median age and weight at repair were 26 days and 3.5 kg, respectively. Thirty patients (71.4%) underwent 1-stage repair. There were 8 early deaths (19%). In the univariable analysis, undergoing surgery before 2011 was associated with early mortality (p=0.031). The overall survival rate at 10 years was 73.8%. In the multivariable analysis, significant truncal valve (TrV) dysfunction (p=0.010), longer cardiopulmonary bypass time (p=0.018), and the earlier era of surgery (p=0.004) were identified as risk factors for overall mortality. During follow-up, 47 reinterventions were required in 27 patients (64.3%). The freedom from all-cause reintervention rate at 10 years was 23.6%. In the multivariable analysis, associated arch obstruction (p

Truncus arteriosus (TA) is a congenital cyanotic heart disease with admixture physiology at the great arterial level. It can have associated anomalies of the pulmonary arteries, truncal valve narrowing, etc., Total pulmonary venous anomalous drainage associated with TA is extremely rare. We report a sick young infant who presented with type I TA and obstructed infracardiac total anomalous pulmonary venous return.

Abstract This article discusses the challenges of supporting a successful pregnancy in a woman with multiple prosthetic heart valves and a complicated cardiac history, from both the patient and provider perspective. The patient is a 29-year-old female with truncus arteriosus type I with initial neonatal VSD closure and right ventricular to pulmonary artery conduit. At the age of 13, she subsequently required truncal and pulmonary valve replacements with mechanical prostheses. Standardizing an approach to anticoagulation in pregnancy in women with prosthetic heart valves is not always possible. Her story demonstrates the importance of an innovative approach to unique cases; by extrapolating what is known about pregnancy and prosthetic heart valves, cardiologists can provide the best outcomes. Simultaneously, non-directive counseling is essential throughout this period to engage the patient in shared decision-making when balancing risks and benefits of each approach to anticoagulation.

In infants undergoing truncus arteriosus (TA) repair, we sought to determine associations between fetal growth restrictions as measured by birth weight Z-score and early outcomes. We utilized the Pediatric Health Information System (PHIS) database to identify infants < 90 days old who underwent TA repair from 2004 to 2019. The primary exposure variable was birth weight Z-score, calculated based on gestational age at birth, gender, and birth weight. The primary outcome was postoperative hospital mortality. Secondary outcomes included major complications, prolonged postoperative length of hospital stay (LOS; > 30 days), and hospital readmission within 1 year. Generalized estimating equation (GEE) models were used to identify adjusted associations between birth weight Z-score, small for gestational age (SGA) status, and mortality and included were 1039 subjects. Median birth weight was 2960 g, gestational age at birth was 38 weeks, and birth weight Z-score was − 0.47. SGA was present in 21% of subjects. Hospital mortality occurred in 104 patients (10%). By multivariable analysis, lower birth weight Z-score was associated with higher hospital mortality [for each unit decrease in birth weight Z-score below − 1.0, adjusted OR 1.71 (95% CI 1.10–4.25)]. SGA status was associated with increased hospital mortality (adjusted OR 2.17; 95% CI 1.39–3.40). Birth weight Z-scores and SGA status were not significantly associated with occurrence of cardiac arrest, ECMO use, gastrostomy tube placement, tracheostomy, seizures, infection, prolonged postoperative LOS, or hospital readmission. In infants undergoing TA repair, lower birth weight Z-scores and SGA status were strongly associated with increased hospital mortality. [ABSTRACT FROM AUTHOR]

Congenital anomalies of the coronary arteries are rare. In this article, we reported a case of 6-month-old female who was brought with breathing difficulty and poor weight gain. Echocardiography was done which showed dextrocardia and truncus arteriosus. A cardiac computed tomography confirmed these findings and additionally revealed that the coronary arteries originated from a common vascular channel from the brachiocephalic artery. This is a very rare occurrence. To our knowledge, only a few such cases have been reported in the literature. [ABSTRACT FROM AUTHOR]

Background Truncus arteriosus (TA) or persistent arterial trunk describes the presence of a solitary arterial trunk arising from the base of the heart, supported by a common ventriculoarterial junction. The trunk gives rise to the coronary arteries, systemic arteries, and at least one pulmonary artery. Truncus arteriosus is a rare congenital cardiac disease, and even rarer is the absence of ventricular septal defect. Case summary We report a case of a 2-day-old infant who presented with cyanosis and a cardiac murmur. He was diagnosed with TA with intact ventricular septum (IVS), as well as crossed pulmonary arteries which was identified on pre-operative imaging. We describe the surgical management and short-term follow-up. Discussion Our clinical case demonstrates a unique diagnosis and management of TA with IVS identified by pre-operative imaging with good surgical outcome. [ABSTRACT FROM AUTHOR]

Objectives: To investigate the incidence, types and pathophysiology of criss-cross pattern of the proximal pulmonary arteries in common arterial trunk and its influence on management and outcomes. Methods: Retrospective review of all patients with common arterial trunk who underwent Aswan Truncus Operation with regard to the origin and course of the proximal pulmonary artery branches as defined by 3D segmented models pre, immediately and 1 and 2 years after operation. Results: Between January 2019 and September 2022, 39 patients (19 males, aged 1–12 months) underwent the Aswan Truncus Operation. 18 patients (46%) had criss-cross arrangement of the proximal pulmonary artery. The mortality, ICU and hospital stay were not affected by the presence or absence of the criss-cross pattern. However, following operation in the criss-cross group, there was evidence of different degrees of kinking and twisting of the right pulmonary artery. This resulted in severe narrowing which required stenting or reoperation at different stages (1 during ICU stay and another after 1 year). Separate origin of the left pulmonary artery (Criss-cross Type 2) from a long stenotic ductus arteriosus required resection of the stenotic segment followed by anastomosis to the right pulmonary artery recreating a 60° angle of bifurcation. Conclusion: Criss-cross pattern of proximal pulmonary arteries is common in patients with common arterial trunk. Pre-operative diagnosis and tailored approaches of repair are required to prevent late complications.

Complex congenital heart defects may necessitate repeated surgical interventions throughout a patient's lifetime. Each subsequent procedure exposes patients to a greater cumulative risk, thus adding to the potential morbidity and mortality of the surgery. Transcatheter interventions can help mitigate the surgical risk for many defects and can delay or mitigate the need for surgery. This case report describes the rare use of a transapically delivered transcatheter aortic valve replacement (TAVR) therapy in a high-risk pediatric patient to postpone the need for surgery and potentially reduce the number of lifelong surgical interventions. The case highlights how transcatheter aortic valve therapies can be considered for non-standard, higher risk pediatric patients to postpone the need for surgical valve replacement and may serve as a paradigm shift in the care of complex patients with aortic valve pathology. [ABSTRACT FROM AUTHOR]

Background Infants with critical congenital heart disease (CCHD) are more likely to be small for gestational age (SGA) or born to mothers with maternal placental syndrome. The objective of this study was to investigate the relationship between maternal placental syndrome, SGA, and gestational age (GA) on 1-year mortality in infants with CCHD. Methods and Results In a population-based administrative database of all live-born infants in California (2007-2012) we identified all infants with CCHD without chromosomal anomalies. Our primary predictor was an impaired fetal environment (IFE), defined as presence of maternal placental syndrome or SGA. We calculated hazard ratios to quantify the association between different components of IFE and 1-year mortality and conducted a causal mediation analysis to assess GA at birth as a mediator. We identified 6863 infants with CCHD. IFE was present in 25.1%. Infants with IFE were more likely to die than infants without IFE (16.6% versus 11.1%; hazard ratios 1.55, 95% CI 1.34-1.78). Only SGA (hazard ratios 1.76, 95% CI 1.50-2.05) and placental abruption (hazard ratios 1.70, 95% CI 1.17-2.48) were significantly associated with mortality; preeclampsia and gestational hypertension had no significant association with mortality. The mediation analysis showed that 32.8% (95% CI 24.9-47.0%) of the relationship between IFE and mortality is mediated through GA. Conclusions IFE is a significant contributor to outcomes in the CCHD population. SGA and placental abruption are the main drivers of postnatal mortality while other maternal placental syndrome components had much less of an impact. Only one third of the effect between IFE and mortality is mediated through GA.

This case describes the first example of a double-barreled aorta in the setting of a common arterial trunk. Our use of annotated and segmented 3-dimensional models greatly enhanced our ability to elucidate the complex anatomy. (Level of Difficulty: Advanced.)

This article discusses the challenges of supporting a successful pregnancy in a woman with multiple prosthetic heart valves and a complicated cardiac history, from both the patient and provider perspective. The patient is a 29-year-old female with truncus arteriosus type I with initial neonatal VSD closure and right ventricular to pulmonary artery conduit. At the age of 13, she subsequently required truncal and pulmonary valve replacements with mechanical prostheses. Standardizing an approach to anticoagulation in pregnancy in women with prosthetic heart valves is not always possible. Her story demonstrates the importance of an innovative approach to unique cases; by extrapolating what is known about pregnancy and prosthetic heart valves, cardiologists can provide the best outcomes. Simultaneously, non-directive counseling is essential throughout this period to engage the patient in shared decision-making when balancing risks and benefits of each approach to anticoagulation. [ABSTRACT FROM AUTHOR]

Introduction: The procedure of choice for treatment of truncus arteriosus is one-stage repair within the first few months of life. Establishing right ventricle-pulmonary artery direct continuity without conduit can be a good alternative in the absence of valved conduits in developing centers. Methods: Between January 2021 and June 2021, a total of five patients (three males, two females) underwent definitive repair of truncus arteriosus without an extracardiac conduit. We used the Barbero-Marcial technique to allow age-related growth, eliminate the risk of conduit-related complications, and to avoid forcing a conduit to place in a very small mediastinal space. Results: The patients' mean age was 31.2 days (11-54 days). Their mean bodyweight was 3.2 kg (2.7-3.8kg). Mean postoperative intensive care unit stay was 39.6 days (7-99 days). There were two mortalities in the intensive care unit on postoperative days 12 and 61 due to lung-related problems. The remaining three cases' mean ventilation time was 15.6 days (8-22 days). Conclusion: Having access to a valved conduit is still challenging for some centers, and the non-conduit repair technique defined by Barbero-Marcial can be a successful, life-saving alternative easy for young surgeons to perform in newly based centers. [ABSTRACT FROM AUTHOR]

Patients with truncus arteriosus and transposition of great arteries are prone to neo-aortic valve insufficiency. Although presenting at opposite ends of the age spectrum, both conditions tend to be commonly associated with neo aortic root dilatation. In patients with truncus arteriosus there is an additional complexity of quadricuspid valve morphology, which make up the majority of valves requiring repair. A unified approach to all these patients would include reduction and stabilization of the annulus and sinotubular junction, as well as achieving equal and symmetrical coaptation of the valve leaflets. By systematically employing these techniques, valve replacement should be avoidable in most children. [ABSTRACT FROM AUTHOR]

The heart of the African clawed frog has a double-inlet and single-outlet ventricle supporting systemic and pulmonary circulations via a truncus, and a lifespan of 25–30 years. We sought to understand the unique cardiac anatomic and physiologic characteristics, with balanced circulation and low metabolic rate, by comparing the basic anatomy structures with focused echocardiography and cardiac magnetic resonance imaging. Twenty-four adult female African clawed frogs were randomly subjected to anatomic dissection (n = 4), echocardiography (n = 10), and cardiac magnetic resonance (n = 10). All anatomical features were confirmed and compared with echocardiography and cardiac magnetic resonance imaging. The main characteristics of the cardiovascular circulation in frogs are the following: Intact interatrial septum, with two separate atrio-ventricular valves, preventing atrial mixing of oxygenated and desaturated blood. Single spongiform ventricular cavity, non-conducive for homogeneous mixing. Single outlet with a valve-like mobile spiral structure, actively streaming into systemic and pulmonary arteries. Intact interatrial septum, spongiform ventricle, and valve-like spiral in the conus arteriosus are likely responsible for balanced systemic and pulmonary circulation in frogs, in spite of double-inlet and single-outlet ventricle. [ABSTRACT FROM AUTHOR]

Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare congenital deformity, and its association with truncus arteriosus (TA) has been infrequently described in medical literature. We report a case of a 3-year-old child presenting with failure to thrive and recurrent respiratory infections, who was diagnosed with truncus arteriosus type 1 and an anomalous left coronary artery originating from the pulmonary artery. The embryological basis of both TA and ALCAPA involves disruptions in the normal development of the aorticopulmonary septum and coronary arteries. TA results from the failure of the truncal ridges and aorticopulmonary septum to develop and divide properly, leading to a single truncal root that does not separate into the aortic and pulmonic outflow tracts, and a single truncal valve [1]. ALCAPA occurs when the left coronary artery, which should normally arise from the left aortic sinus, anomalously originates from the pulmonary artery [2]. This case underscores the importance of a comprehensive and multidisciplinary approach in diagnosing and treating patients with complex congenital heart disease., (© 2024 The Authors. Published by Elsevier Inc. on behalf of University of Washington.)

Background: Despite surgical advances, neonatal truncus arteriosus repair remains high risk and approximately 10% of patients receive perioperative extracorporeal membrane oxygenation (ECMO). We aimed to assess factors and outcomes associated with the use of perioperative ECMO in infants undergoing truncus arteriosus repair. Methods: We conducted a retrospective cohort study of patients who underwent truncus arteriosus repair between 2004 and 2019, using administrative data from the Pediatric Health Information System database. Results: We identified 1,645 neonates and infants who underwent truncus arteriosus repair at 49 centers, of which 141 (8.6%) received ECMO. Prematurity (adjusted odds ratio [aOR], 2.06; 95% CI, 1.38-3.06; P  < .001), truncal valve intervention (aOR, 4.69; 95% CI, 2.56-8.59; P  < .001), and interrupted aortic arch repair (aOR, 1.80; 95% CI, 0.96-3.38; P  = .07) were associated with perioperative ECMO. Hospital mortality occurred in 87 of 141 (62%) patients who received ECMO compared with 77/1504 (5.1%) who did not require ECMO(aOR, 13.39; 95% CI, 8.70-20.61; P  < .001). In the 1,481 patients who survived to hospital discharge, ECMO was associated with higher rates of postoperative length of stay >30 days (63% [34/54] vs 28% [400/1427]; aOR 2.65; 95% CI, 1.24-5.64, P  = .012) and hospital readmission within 90 days (61% [33/54 [ vs 33% [474/1427] [; aOR, 2.66; 95% CI, 1.47-4.82; P  = .001). Conclusions: Prematurity, truncal valve intervention, and interrupted aortic arch repair are important risk factors that could help predict the use of perioperative ECMO. Extracorporeal membrane oxygenation utilization is strongly associated with greater odds of hospital mortality, prolonged postoperative length of stay, and higher rates of hospital readmission in surviving patients., 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.

Conotruncal heart defects are severe congenital malformations of the outflow tract, including truncus arteriosus (TA) and double-outlet right ventricle (DORV). TA is a severe congenital heart disease (CHD) in which the main arterial outflow tract of the heart fails to separate. We recently reported TMEM260 (NM&#95;017799.4), c.1617del (p.Trp539Cysfs*9), as a major cause of TA in the Japanese population (TMEM260 Keio-Tohoku variant) comparable to the prevalence of the 22q11.2 deletion syndrome, which accounts for 12%-35% of TA. However, no other major causes of TA have not been identified. Here, we report a family that included a TA patient and a DORV patient, harboring the compound heterozygous variants of TMEM260, a 7066-bp deletion encompassing exons 6-7 and c.1393C > T, p.(Gln465*). The allele frequency of the 7066-bp deletion was particularly high in the Japanese population (0.17%). Based on the allele frequency of this deletion and c.1617del (0.36%) in the Japanese population, TMEM260 variants might be associated with more than half of the Japanese patients with TA. This study showed that TMEM260 pathogenic variants might be the most common cause of TA in the Japanese population and could explain the wide spectrum of phenotypes associated with TMEM260-related CHD, including DORV, demonstrating the usefulness of genetic testing in Japanese patients with TA., (© 2024 The Author(s). American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)

ABSTRACT Introduction: The procedure of choice for treatment of truncus arteriosus is one-stage repair within the first few months of life. Establishing right ventricle-pulmonary artery direct continuity without conduit can be a good alternative in the absence of valved conduits in developing centers. Methods: Between January 2021 and June 2021, a total of five patients (three males, two females) underwent definitive repair of truncus arteriosus without an extracardiac conduit. We used the Barbero-Marcial technique to allow age-related growth, eliminate the risk of conduit-related complications, and to avoid forcing a conduit to place in a very small mediastinal space. Results: The patients’ mean age was 31.2 days (11-54 days). Their mean bodyweight was 3.2 kg (2.7-3.8kg). Mean postoperative intensive care unit stay was 39.6 days (7-99 days). There were two mortalities in the intensive care unit on postoperative days 12 and 61 due to lung-related problems. The remaining three cases’ mean ventilation time was 15.6 days (8-22 days). Conclusion: Having access to a valved conduit is still challenging for some centers, and the non-conduit repair technique defined by Barbero-Marcial can be a successful, life-saving alternative easy for young surgeons to perform in newly based centers.

Truncus arteriosus (TA) is a very rare congenital anomaly with complex cardiovascular anatomy and high lethality also due to severe associated anatomical variants and pathologies. As TA has a massive impact on the survival of a newborn and usually has to be surgically treated. Thus, it is of high importance to understand this congenital cardiovascular disease and associated complications, to improve life expectancy and outcome of these patients. We recently came across a newborn female patient with a rare complex case of persistent TA type 2 associated with further complex cardiovascular anomalies, who received a contrast enhanced CT scan on the 3 rd day post-partum, showing complex cardiovascular abnormalities that were ultimately incompatible with life.

Aims: We investigated the clinical characteristics and pregnancy outcomes of conotruncal heart anomalies (CTAs), which constitute a significant part of congenital heart diseases in the prenatal period. Methods: This study analyzed patients with CTA diagnosed between 2015 and 2020. The incidence of tetralogy of Fallot (TOF), transposition of the great arteries (TGA), double outlet right ventricle (DORV), truncus arteriosus (TA), and interrupted aortic arch type B (IAA-B) was identified. The time of diagnosis and accuracy of CTAs, concomitant anomalies (cardiac and extracardiac), and chromosomal disorders observed together were examined. Pregnancy outcomes and neonatal survival rates were evaluated. Results: A total of 396 congenital heart diseases were examined. CTA was diagnosed in 102 (25.8%) of the patients. Ninety-nine patients with available data were analyzed. A total of 33 (33.3%) patients were diagnosed with TOF, 30 (30.3%) with DORV, 16 (16.2%) with TA, 16 (16.2%) with TGA, and 4 (4%) with IIA-B. CTA was an isolated anomaly in 28 (28.3%) of the patients. The other patients had one or more accompanying cardiac/extracardiac anomalies. The prenatal invasive diagnostic was examined in 40 (40.4%) of the patients, and chromosomal anomalies were detected in 16 (40%) of them. In 18 (18.4%) of the patients, pregnancy was terminated at the request of the parents. Intrauterine demise occurred in 4 (4.9%) pregnancies that were not terminated, and neonatal death occurred in 26 (32.1%) of the newborns. Conclusions: The presence of additional cardiac, extracardiac, and genetic abnormalities are common in CTAs and are associated with adverse outcomes. [ABSTRACT FROM AUTHOR]

We studied conduit-related risk factors for mortality, conduit reintervention, conduit replacement, and pulmonary artery (PA) reinterventions after truncus repair. Patients who underwent truncus repair at our institution between 1995 and 2019 were studied. Cox proportional hazards modeling evaluated variables for association with mortality, time to conduit reintervention, time to conduit replacement, and time to PA reintervention. Truncus was repaired in 107 patients at median age of 17 days (IQR 9-45). Median follow-up time was 7 years. Aortic homografts were implanted in 57 (53%) patients, pulmonary homograft in 40 (37%), and bovine jugular conduit in 10 (9%). Median conduit size was 11 mm (IQR 10-12) and median conduit Z-score was 1.71 (IQR 1.08-2.34). At 5 years, there was 87% survival, 21% freedom from conduit reinterventions, 37% freedom from conduit replacements, and 55% freedom from PA reinterventions. Conduit size (HR 0.7, 95%CI 0.4-1.4, p=.41) and type (aortic homograft reference; bovine jugular vein graft HR 0.6, 95% CI 0.08-5.2, p=.69; pulmonary homograft HR 0.7, 95% CI 0.2-2.3, p=.58) were not associated with mortality. On multivariate analysis, the hazard for conduit reintervention, conduit replacement, and PA reintervention decreased with increasing conduit Z-score values of 1 to 2.5 (non-linear relationship, p<.01), with little additional reduction in hazard beyond this range. Implantation of a larger conduit within Z-score values of 1 and 2.5 is associated with a decreased hazard for conduit reintervention, conduit replacement, and PA reintervention after truncus repair. The type and size of the conduits did not impact mortality. [ABSTRACT FROM AUTHOR]

Truncus arteriosus (TA) is defined as a congenital cardiovascular malformation in which one great artery arises from the base of the heart and gives origin to the pulmonary and systemic arteries. TA patients who become pregnant have high morbidity and mortality rates because physiologic changes during pregnancy can worsen the cardiopulmonary balance causing cardiopulmonary decompensation. In this case report we report a successful general anesthesia in a truncus arteriosus patient with severe pulmonary hypertension (Eisenmenger syndrome) who underwent a full-term pregnancy delivery monitored by intraoperative transesophageal echocardiography, a new technique to assist physicians in dealing with patients with hemodynamic instability during both cardiac and noncardiac surgery.