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The article presents a case study of a 4-year-old girl diagnosed with persistent truncus arteriosus (PTA), highlighting her imaging manifestations as observed through echocardiography (ECHO) and cardiac computed tomography angiography (CTA). Topics discussed include the clinical presentation of PTA, the embryonic development failure leading to this condition, and the importance of early diagnosis and surgical intervention to improve patient outcomes.

Introduction: Congenital heart diseases (CHD) are among the most common form of birth defects. The fetal cardiac screening by ultrasound can detect a high proportion of cases of CHD. Detection of cardiac anomalies can be challenging and is typically done by fetal cardiac ultrasound performed between 18 and 22 weeks. A transvaginal scan can detect anomalies even at 12-13 weeks. Early and precise detection of CHD can direct appropriate management. Objectives: To detect the incidence of congenital heart diseases at a tertiary care centre and to detect cardiac anomalies early, accurately, and help avail all the benefits of early prenatal diagnosis. Methods: A descriptive cross-sectional study, where 5,000 patients were screened over a period of 10 months who came for routine second trimester (16 to 24 weeks) obstetric evaluation. The fetal heart was evaluated and sequential segmental analysis was done using ultrasonography. Detailed biometric and structural evaluations of all fetuses were undertaken. In high-risk cases (17%), or in cases with positive cardiac findings, the extended fetal echocardiographic examination was performed at 16-20 weeks(850 cases). Follow-up scans were done at 24 weeks and post-natal periods to confirm the diagnosis. Out of 5,000 screened cases, 25 fetuses had CHD. The most common indication for extended fetal echo was maternal (59.2%) followed by fetal (40.2%). In maternal indications, the most common was advanced maternal gestational age (>35 years), followed by bad obstetric history and gestational diabetes. In fetal indications, the most common was abnormal obstetric Doppler findings favouring IUGR. Results: Of 5,000 cases examined by us, at 16 - 24 weeks using Color Doppler, and a high-end ultrasound machine, we could diagnose VSD in 3 cases, ASD in 2 cases, TOF in 2 cases, Transposition of great vessels in 2 cases, Hypoplastic left heart syndrome in 2 cases, Ebstein's anomaly in 1 case and severe fetal hydrops with bradycardia in 1 case. On follow-up scan at 24 weeks, 2 additional VSD cases, 2 additional ASD cases, 2 new cases of TOF, and 1 new case of TGA were diagnosed. However, the number of cases of other pathologies remained the same. On post-natal scan additional cases of VSD, TOF and TGA diagnosed were 2, 1, and 2. Conclusion: An apparently normal appearance at any stage of pregnancy does not exclude a major heart defect, and it seems likely that some defects may be amenable to diagnosis only after birth. Hence follow-up scans with minute observation and technical expertise are need of the hour. Most of the CHDs in our region are missed, primarily because of poor socioeconomic status, lack of availability and awareness of diagnostic echocardiography. Spreading awareness and skill of fetal echocardiography is need of the hour. [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]

Introduction: Homografts and bovine jugular vein are the most commonly used conduits for right ventricular outflow tract reconstruction at the time of primary repair of truncus arteriosus. Methods: We reviewed all truncus patients from 1990 to 2020 in two mid-volume centers. Inclusion criteria were primary repair, age under one year, and implantation of either homograft or bovine jugular vein. Kaplan-Meier analysis was used to estimate survival, freedom from reoperation on right ventricular outflow tract, and freedom from right ventricular outflow tract reoperation or catheter intervention. Results: Seventy-three patients met the inclusion criteria, homografts were implanted in 31, and bovine jugular vein in 42. There was no difference in preoperative characteristics between the two groups. There were 25/73 (34%) early postoperative deaths and no late deaths. Follow-up for survivals was 17.5 (interquartile range 13.5) years for homograft group, and 11.5 (interquartile range 8.5) years for bovine jugular vein group (P=0.002). Freedom from reoperation on right ventricular outflow tract at one, five, and 10 years in the homograft group were 100%, 83%, and 53%; and in bovine jugular vein group, it was 100%, 85%, and 50% (P=0.79). There was no difference in freedom from reoperation or catheter intervention (P=0.32). Conclusion: Bovine jugular vein was equivalent to homografts up to 10 years in terms of survival and freedom from right ventricular outflow tract reoperation or catheter intervention. The choice of either valved conduit did not influence the durability of the right ventricle-pulmonary artery conduit in truncus arteriosus. [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]

ABSTRACT Introduction: Homografts and bovine jugular vein are the most commonly used conduits for right ventricular outflow tract reconstruction at the time of primary repair of truncus arteriosus. Methods: We reviewed all truncus patients from 1990 to 2020 in two mid-volume centers. Inclusion criteria were primary repair, age under one year, and implantation of either homograft or bovine jugular vein. Kaplan-Meier analysis was used to estimate survival, freedom from reoperation on right ventricular outflow tract, and freedom from right ventricular outflow tract reoperation or catheter intervention. Results: Seventy-three patients met the inclusion criteria, homografts were implanted in 31, and bovine jugular vein in 42. There was no difference in preoperative characteristics between the two groups. There were 25/73 (34%) early postoperative deaths and no late deaths. Follow-up for survivals was 17.5 (interquartile range 13.5) years for homograft group, and 11.5 (interquartile range 8.5) years for bovine jugular vein group (P=0.002). Freedom from reoperation on right ventricular outflow tract at one, five, and 10 years in the homograft group were 100%, 83%, and 53%; and in bovine jugular vein group, it was 100%, 85%, and 50% (P=0.79). There was no difference in freedom from reoperation or catheter intervention (P=0.32). Conclusion: Bovine jugular vein was equivalent to homografts up to 10 years in terms of survival and freedom from right ventricular outflow tract reoperation or catheter intervention. The choice of either valved conduit did not influence the durability of the right ventricle-pulmonary artery conduit in truncus arteriosus.

We describe a neonate with a unique variant of truncus arteriosus with interrupted aortic arch, an absent ascending aorta, persistent right dorsal aorta, and an unusual brachiocephalic artery pattern in which all head and neck vessels were supplied from the ductal arch-descending aorta continuum. (Level of Difficulty: Beginner.)

Tetralogy of Fallot with aortic stenosis is an extremely rare entity which bears some morphological similarities with the common arterial trunk. Through two illustrative cases of TOF with aortic stenosis we describe the shared anatomical peculiarities of the two anomalies with a review of the possible genetic and developmental factors responsible for the association. [ABSTRACT FROM AUTHOR]

Aortopulmonary window (APW) is a rare congenital cardiac anomaly characterised by abnormal communication between the aorta and the pulmonary trunk in the presence of separately formed semilunar valves. We present a case that was initially diagnosed in prenatal life at 21 weeks as common arterial trunk. Follow-up scans starting from 31 weeks revealed APW type I in the setting of tetralogy of Fallot (S, D, S) with a right-sided aortic arch with wide interatrial communication. The neonate was born at 38 weeks of gestation by caesarean section; its birth weight was 2825 g. The postnatal echocardiogram confirmed the prenatal diagnosis provided later in gestation. Three weeks after birth, the child was scheduled for surgery: complete repair and APW closure using an autologous pericardial patch, excision of trabeculae in the right ventricular outflow tract (RVOT), transannular reconstruction below the RVOT, reconstruction of the RVOT, and partial ASD closure. The child was discharged from the hospital, weighing 3300 g, with 97% saturation. APW may remain undiagnosed until adulthood. A late diagnosis may result in congestive heart failure and irreversible damage to the pulmonary vessels. Early detection of APW, preferably in the prenatal period, remains the key issue in terms of this condition. [ABSTRACT FROM AUTHOR]

Persistent truncus arteriosus (PTA) is an uncommon and complex congenital cardiac malformation accounting for about 1.2% of all congenital heart diseases (CHDs), which is caused by a deficiency in the embryonic heart outflow tract's (OFT) septation and remodeling. PDGFRα and PDGFRβ double knockout (DKO) in cardiac neural crest cells (CNCCs) has been reported to cause PTA, but the underlying mechanisms remain unclear. Here, we constructed a PTA mouse model with PDGFRα and PDGFRβ double knockout in Pax3+ CNCCs and described the condensation failure into OFT septum of CNCC-derived cells due to disturbance of cell polarity in the DKO group. In addition, we further explored the mechanism with single-cell RNA sequencing. We found that two main cell differentiation trajectories into vascular smooth muscle cells (VSMCs) from cardiomyocytes (CMs) and mesenchymal cells (MSs), respectively, were interrupted in the DKO group. The process of CM differentiation into VSMC stagnated in a transitional CM I-like state, which contributed to the failure of OFT remodeling and muscular septum formation. On the other hand, a Penk+ transitional MS II cluster closely related to cell condensation into the OFT septum disappeared, which led to the OFT's septation absence directly. In conclusion, the disturbance of CNCC-derived cells caused by PDGFRα and PDGFRβ knockout can lead to the OFT septation disorder and the occurrence of PTA. [ABSTRACT FROM AUTHOR]

Background: This study describes the 20-year experience of managing common arterial trunk (CAT) in a low-and-middle-income country and compares the early and medium-term outcomes following the transition from conduit to nonconduit repair at the Red Cross War Memorial Children's Hospital., Methods: Single-center retrospective study of consecutive patients aged less than 18 years who underwent repair of CAT from January 1999 to December 2018 at the Red Cross War Memorial Children's Hospital. Patients with interrupted aortic arch or previous pulmonary artery banding were excluded., Results: Fifty-four patients had CAT repair during the study period. Thirty-four (63.0%) patients had a conduit repair, and 20 (37.0%) patients had a nonconduit repair. There were two intraoperative deaths. Thirty-day in-hospital mortality was 22.2% (12/54). Overall, in-hospital mortality was 29.6% (16/54). Eight (21.1%) late mortalities were observed. The actuarial survival for the conduit group was 77.5%, 53.4%, and 44.5% at 6, 12, and 27 months, respectively, and the nonconduit group was 58.6% at six months. The overall freedom from reoperation between the conduit group and nonconduit group was 66.2% versus 86.5%, 66.2% versus 76.9%, and 29.8% versus 64.1% at 1, 2, and 8 years, respectively., Conclusions: The outcomes following the transition to nonconduit repair for CAT in a low- and middle-income setting appear to be encouraging. There was no difference in mortality between conduit and nonconduit repairs, and importantly the results suggest a trend toward lower reintervention rates., 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.

Truncus arteriosus is a rare, cyanotic, and congenital heart defect occurring due to failure in the differentiation of the aorta and the pulmonary artery during fetal development. The disease is categorized into four sub-categories in the Van Praagh and Collett & Edwards classification systems according to the origin of the pulmonary arteries. Surgical correction of the pulmonary arteries and repair of the ventricular septal defect is the preferred treatment strategy of choice; this intervention is required early in life. Here, we report a four-month-old baby with truncus arteriosus consisting of atypical pulmonary anatomy undefined by either the Van Praagh or the Collett & Edwards classification systems who underwent successful corrective surgery. [ABSTRACT FROM AUTHOR]

Abstract Objectives Persistent truncus arteriosus represents less than 3% of all congenital heart defects. We aim to analyze mid-term outcomes after primary Truncus arteriosus repair at different ages and to identify the risk factors contributing to mortality and the need for intervention after surgical repair. Methods This retrospective cohort study included 36 children, underwent repair of Truncus arteriosus in the period from January 2011 to December 2018 in two institutions. We recorded the clinical and echocardiographic data for the patients preoperatively, early postoperative, 6 months postoperative, then every year until their last documented follow-up appointment. Results Thirty-six patients had truncus arteriosus repair during the study period. Thirty-one patients had open sternum post-repair, and two patients required extracorporeal membrane oxygenation. Bleeding occurred in 15 patients (41.67%), and operative mortality occurred in 5 patients (14.7%). Patients with truncus arteriosus type 2 (p = 0.008) and 3 (p = 0.001) and who were ventilated preoperatively (p

During cardiogenesis, the outflow tract undergoes a complicated morphogenesis, including the re-alignment of the great blood vessels, and the separation of aorta and pulmonary trunk. The deficiency of FGF8 in the morphogenesis of outflow tract has been well studied, however, the effect of over-dosed FGF8 on the development of outflow tract remains unknown. In this study, Rosa26R-Fgf8 knock-in allele was constitutively activated by Wnt1-cre transgene in the mouse neural crest cells presumptive for the endocardial cushion of outflow tract. Surprisingly, Wnt1-cre; Rosa26R-Fgf8 mouse embryos exhibited persistent truncus arteriosus and died prior to E15.5. The cardiac neural crest cells in Wnt1-cre; Rosa26R-Fgf8 truncus arteriosus did not degenerate as in WT controls, but proliferated into a thickened endocardial cushion and then, blocked the blood outflow from cardiac chambers into the lungs, which resulted in the embryonic lethality. Although the spiral aorticopulmonary septum failed to form, the differentiaion of the endothelium and smooth muscle in the Wnt1-cre; Rosa26R-Fgf8 truncus arteriosus were impacted little. However, lineage tracing assay showed that the neural crest derived cells aggregated in the cushion layer, but failed to differentiate into the endothelium of Wnt1-cre; Rosa26R-Fgf8 truncus arteriosus. Further investigation displayed the reduced p-Akt and p-Erk immunostaining, and the decreased Bmp2 and Bmp4 transcription in the endothelium of Wnt1-cre; Rosa26R-Fgf8 truncus arteriosus. Our findings suggested that Fgf8 over-expression in cardiac neural crest impaired the formation of aorticopulmonary septum by suppressing the endothelial differentiation and stimulating the proliferation of endocardial cushion cells, which implicated a novel etiology of persistent truncus arteriosus. [ABSTRACT FROM AUTHOR]

Congenital heart defects in adulthood constitute the sufficient proportion of cardiac pathology. The common arterial trunk (CAT) is one of the сongenital cardiac defects that is described in the adult population. Without surgical intervention, patients who survived become inoperable quickly due to the development of early congestive heart insufficiency and pulmonary hypertension. The purpose of the research is to analyze the autopsy case of unoperated congenital cardiac defects in adulthood. Materials and methods. The pathomorphological analysis of the case of death of a 33-year-old male with untreated complex congenital heart defect – CAT, ventricular septal defect, Eisenmenger's syndrome was made using standard and elective histological techniques. Results. In the forensic examination of the body of the deceased 33-year-old male, congenital heart defect was diagnosed as CAT and ventricular septal defect. Coronary, pulmonary and major arteries of a large circle of blood circulate from the CAT. Congenital heart defect has been complicated by the development of cardiomegaly (heart weight 1500 g) with myocardial hypertrophy of both ventricles and led to decompensation of cardiac activity. During the pathohistological examination of the valve of the CAT we determined the foci of fibrinoid necrosis, myxomatosis, single accumulation of lymphocytes, focal fibrosis. In the myocardium of the right and left ventricles we observed hypertrophy, focal contraction and fragmentation of cardiomyocytes, expressed intramuscular edema, sclerosis of the walls of the small intramural arteries with perifocal areas of vacuolar degeneration of cardiomyocytes, stromal cardiosclerosis, isolated interstitial infiltration of lymphocytes, dilatation of lymphatic vessels. In the pulmonary tissue diffuse hemosiderosis, multiple intravalveolar hemorrhages, sclerosis of the small pulmonary arteries with the formation of two- and three-sided lumen, sclerosis of interalveolar membranes were detected. Morphological changes in the myocardium and lungs confirm prolonged congestive heart failure and pulmonary hypertension. Conclusions. We describe a unique case of long-term survival of a patient with CAT without surgical intervention. The complex of pathomorphological changes of the described case testifies to cardiovascular remodeling, which is the base of hemodynamic evolution of complex congenital heart disease and allowed the man to live up to 33 years without surgical intervention.

Approximately eight of every 1,000 newborns have a congenital heart abnormality, ranging from mild to severe. This paper provides a review of these conditions, beginning with an overview of cardiac embryology, fetal and transitional circulation, newborn cardiac evaluation and principles of newborn cardiac testing. Disorders covered include cyanotic heart defects, persistent pulmonary hypertension of the newborn, acyanotic defects, congestive heart failure and cardiogenic shock, associated congenital heart defects of the dysmorphic newborn, and neonatal arrhythmias. Understanding and appreciation of newborn cardiac physiology is vital for the clinician that is caring for the newborn. [ABSTRACT FROM AUTHOR]

Objective: The objective of this study was to identify patient and hospitalization characteristics associated with in-hospital mortality in infants with truncus arteriosus.Methods: We conducted a retrospective analysis of a large administrative database, the National Inpatient Sample data set of the Healthcare Cost and Utilization Project for the years 2002 to 2017. We also sought to evaluate the resource utilization in the subgroup of subjects with truncus arteriosus and 22q11.2 deletion syndrome. Neonates with truncus arteriosus were identified by ICD-9 and ICD-10 codes. Hospital and patient factors associated with inpatient mortality were analyzed.Results: Overall, 3009 neonates met inclusion criteria; a total of 326 patients died during the hospitalization (10.8%). Extracorporeal membrane oxygenation utilization was 7.1%. Univariate and multivariate logistic regression analyses were used to identify risk factors for in-hospital mortality. Significant risk factors for mortality were prematurity (adjusted odds ratio [aOR] = 2.43; 95% confidence interval [CI]: 1.40-4.22; P = .002), diagnosis of stroke (aOR = 26.2; 95% CI: 10.1-68.1; P < .001), necrotizing enterocolitis (aOR = 3.10; 95% CI: 1.24-7.74; P = .015) and presence of venous thrombosis (aOR = 13.5; 95% CI: 6.7-27.2; P < .001). Patients who received extracorporeal membrane oxygenation support or had cardiac catheterization procedure during the hospitalization had increased odds of mortality (aOR = 82.0; 95% CI: 44.5-151.4; P < .001, and aOR = 1.65; 95% CI: 0.98-2.77; P = .060, respectively).Conclusion: 22q11.2 deletion syndrome was associated with an inverse risk of death despite having more noncardiac comorbidities; this patient subpopulation also had a higher length of stay and increased cost of hospitalization. [ABSTRACT FROM AUTHOR]

Background: Pulmonary stenosis in patients with common arterial trunk protects the pulmonary vasculature. In our recently published prospective study of common arterial trunk, some patients with sinusal origin of the pulmonary arterial segment had pulmonary stenosis induced by systolic excursion of a truncal valvar leaflet. We aimed to determine the detailed morphologic characteristics of this unusual finding. Methods and Results: All 70 patients underwent echocardiography and computed tomographic angiography as per predefined study protocol. In selected cases, we also performed cardiac catheterization. Among 27 patients with aortic dominance, we found sinusal origin of the pulmonary arterial segment. In 5 of these patients, pulmonary stenosis was induced by systolic excursion of a truncal valvar leaflet. In all these patients, the truncal valve was trisinusate, albeit with asymmetric sinuses. The pulmonary arterial segment arose from the largest left sinus with its relatively large leaflet obstructing the pulmonary orifice during systole. In the remaining 22 patients, without pulmonary stenosis but with sinusal origin of pulmonary arterial segment, the truncal valve was quadrisinusate in 7, bisinusate in 2, and trisinusate in 13. None of the patients with quadrisinusate and bisinusate truncal valves had pulmonary stenosis. Among the 13 patients with trisinusate valves, the sinuses of the truncal valve were symmetrical in 6, while in 7, the pulmonary orifice originated from a smaller asymmetric sinus. Conclusion: Pulmonary stenosis, produced by a relatively large leaflet of an asymmetric truncal sinus, may prevent early development of pulmonary vascular disease. Timely recognition of this unusual mechanism of pulmonary stenosis is important for optimal management. [ABSTRACT FROM AUTHOR]

Objectives: Persistent truncus arteriosus represents less than 3% of all congenital heart defects. We aim to analyze mid-term outcomes after primary Truncus arteriosus repair at different ages and to identify the risk factors contributing to mortality and the need for intervention after surgical repair.Methods: This retrospective cohort study included 36 children, underwent repair of Truncus arteriosus in the period from January 2011 to December 2018 in two institutions. We recorded the clinical and echocardiographic data for the patients preoperatively, early postoperative, 6 months postoperative, then every year until their last documented follow-up appointment.Results: Thirty-six patients had truncus arteriosus repair during the study period. Thirty-one patients had open sternum post-repair, and two patients required extracorporeal membrane oxygenation. Bleeding occurred in 15 patients (41.67%), and operative mortality occurred in 5 patients (14.7%). Patients with truncus arteriosus type 2 (p = 0.008) and 3 (p = 0.001) and who were ventilated preoperatively (p < 0.001) had a longer hospital stay. Surgical re-intervention was required in 8 patients (22.86%), and 11 patients (30.56%) had catheter-based reintervention. Freedom from reintervention was 86% at 1 year, 75% at 2 years and 65% at 3 years. Survival at 1 year was 81% and at 3 years was 76%. High postoperative inotropic score predicted mortality (p = 0.013).Conclusion: Repair of the truncus arteriosus can be performed safely with low morbidity and mortality, both in neonates, infants, and older children. Re-intervention is common, preferably through a transcatheter approach. [ABSTRACT FROM AUTHOR]

Background: A complex and rare form of persistent truncus arteriosus needs careful attention when choosing the optimal strategy for repair.Aim Of the Study: We herein describe our surgical strategy of a small infant having this malformation concomitantly with right aortic arch, unusual pulmonary artery branching and a left superior vena cava.Methods: The patient underwent initially bilateral pulmonary arterial banding followed by the Rastelli type definitive repair. The pulmonary arteries were unified in front of the left superior vena cava, and the right ventricular outflow tract was readily reconstructed.Results: The patient is doing well with an excellent hemodynamic status.Conclusions: We considered the two-stage approach was sensible in this particular patient. [ABSTRACT FROM AUTHOR]

Congenital heart diseases (CHDs) involving the outflow tract (OFT), such as persistent truncus arteriosus (PTA), lead to mortality and morbidity with implications not only in the heart, but also in the pulmonary vasculature. The mechanisms of pulmonary artery (PA) development and the etiologies underlying PA disorders associated with CHD remain poorly understood partly because of a specific marker for PA development is nonexistent. The three subtypes of inositol 1,4,5-trisphosphate receptors (IP 3 R1, 2, and 3) are intracellular Ca2+ channels that are essential for many tissues and organs. We discovered that IP 3 R2 was expressed in the vasculature and heart during development using transgenic mice, in which a LacZ marker gene was knocked into the IP 3 R2 locus. Whole-mount and section LacZ staining showed that IP 3 R2-LacZ-positive cells were detectable exclusively in the smooth muscle cells, or tunica media, of PA, merging into αSMA-positive cells during development. Furthermore, our analyses suggested that IP 3 R2-LacZ positive PA smooth muscle layers gradually elongate from the central PA to the peripheral PAs from E13.5 to E18.5, supporting the distal angiogenesis theory for the development of PA, whereas IP 3 R2-LacZ was rarely expressed in smooth muscle cells in the pulmonary trunk. Crossing IP 3 R-LacZ mice with mice hypomorphic for Tbx1 alleles revealed that PTA of Tbx1 mutants may result from agenesis or hypoplasia of the pulmonary trunk; thus, the left and right central to peripheral PAs connect directly to the dorsal side of the truncus arteriosus in these mutants. Additionally, we found hypercellular interstitial mesenchyme and delayed maturation of the lung endoderm in the Tbx1 mutant lungs. Our study identifies IP 3 R2 as a novel marker for clear visualization of PA during development and can be utilized for studying cardiopulmonary development and disease. • IP 3 R2-LacZ is expressed in the pulmonary artery smooth muscle cells in lungs. • IP 3 R2-LacZ is expressed in the outflow tract derived from the splanchnic mesoderm. • Formation of the pulmonary trunk was impaired in Tbx1 hypomorphic heart. • Maturation of Tbx1 hypomorphic lungs was delayed in the late stage of development. [ABSTRACT FROM AUTHOR]

The embryonic process of forming a complex structure such as the heart remains poorly understood. Here, we show that Six2 marks a dynamic subset of second heart field progenitors. Six2-positive (Six2+) progenitors are rapidly recruited and assigned, and their descendants are allocated successively to regions of the heart from the right ventricle (RV) to the pulmonary trunk. Global ablation of Six2+ progenitors resulted in RV hypoplasia and pulmonary atresia. An early stage-specific ablation of a small subset of Six2+ progenitors did not cause any apparent structural defect at birth but rather resulted in adult-onset cardiac hypertrophy and dysfunction. Furthermore, Six2 expression depends in part on Shh signaling, and Shh deletion resulted in severe deficiency of Six2+ progenitors. Collectively, these findings unveil the chronological features of cardiogenesis, in which the mammalian heart is built sequentially by temporally distinct populations of cardiac progenitors, and provide insights into late-onset congenital heart disease.

The pulmonary dominant variant of the common arterial trunk has always been reported to be associated with aortic coarctation, or interruption of the aortic arch, along with a duct-dependent systemic circulation. This mandates a complex surgical repair with attendant high surgical mortality. We report a 23-day-old baby with a pulmonary dominant trunk with mild aortic hypoplasia but with an arch free of coarctation or interruption, who underwent successful surgical repair. In the preoperative evaluation of a common arterial trunk, pulmonary dominance may not necessarily denote an adverse risk factor when the aorta is only mildly hypoplastic. [ABSTRACT FROM AUTHOR]

In normal cardiovascular development in birds and mammals, the outflow tract of the heart is divided into two distinct channels to separate the oxygenated systemic blood flow from the deoxygenated pulmonary circulation. When the process of outflow tract septation fails, a single common outflow vessel persists resulting in a serious clinical condition known as persistent truncus arteriosus or common arterial trunk. In this chapter, we will review molecular pathways and the cells that are known to play a role in the formation and development of the outflow tract and how genetic manipulation of these pathways in animal models can result in common arterial trunk., (© 2024. The Author(s), under exclusive license to Springer Nature Switzerland AG.)

Embryologically, the common arterial trunk (CAT) is due to the failure of septation by the major outflow cushions. This invariably leads to the presence of an associated large juxta-arterial ventricular septal defect. Overriding of the ventricular septum leads to its biventricular origin in more than 2/3rd of cases. Uncommonly, CAT may be associated with an intact ventricular septum (IVS) and univentricular origin. We describe an infant with CAT, intact IVS, hypoplastic right ventricle, and Ebstein's anomaly of the tricuspid valve who presented to us and palliated successfully. The embryological mechanisms are discussed in this report. [ABSTRACT FROM AUTHOR]

Background: Proper development of the great vessels of the heart and septation of the cardiac outflow tract requires cardiac neural crest cells. These cells give rise to the parasympathetic cardiac ganglia, the smooth muscle layer of the great vessels, some cardiomyocytes, and the conotruncal cushions and aorticopulmonary septum of the outflow tract. Ablation of cardiac neural crest cells results in defective patterning of each of these structures. Previous studies have shown that targeted deletion of the forkhead transcription factor C2 (Foxc2), results in cardiac phenotypes similar to that derived from cardiac neural crest cell ablation. Results: We report that Foxc2‐/‐ embryos on the 129s6/SvEv inbred genetic background display persistent truncus arteriosus and hypoplastic ventricles before embryonic lethality. Foxc2 loss‐of‐function resulted in perturbed cardiac neural crest cell migration and their reduced contribution to the outflow tract as evidenced by lineage tracing analyses together with perturbed expression of the neural crest cell markers Sox10 and Crabp1. Foxc2 loss‐of‐function also resulted in alterations in PlexinD1, Twist1, PECAM1, and Hand1/2 expression in association with vascular and ventricular defects. Conclusions: Our data indicate Foxc2 is required for proper migration of cardiac neural crest cells, septation of the outflow tract, and development of the ventricles. Developmental Dynamics 247:1286–1296, 2018. © 2018 Wiley Periodicals, Inc. Key Findings: Foxc2 is expressed in migrating neural crest cells and cardiac mesenchyme.On the 129s6/SvEv genetic background, Foxc2 loss‐of‐function embryos exhibit persistent truncus arteriosus and ventricle hypoplasia, leading to embryonic lethality at E13.5.Aberrant cardiac neural crest migration in association with disruption in guidance cues precedes reduced contribution to the outflow tract.Ventricle patterning and development is impaired in the absence of Foxc2. [ABSTRACT FROM AUTHOR]

The purpose of this report is to assess the mid- and long-term outcomes of right ventricular outflow tract (RVOT) reconstruction for children with persistent truncus arteriosus. Between September 2006 and 2016, 105 patients with persistent truncus arteriosus (PTA) received surgical treatment at Shanghai Children’s Medical Center. Direct right ventricle-pulmonary artery anastomosis (pulmonary artery pull-down) was performed in 51 patients; a left auricle or pericardial conduit was inserted between the RVOT and pulmonary artery as a connection in 17 patients; heterograft (bovine jugular vein or Gore-tex) conduits and homograft conduits were used in 30 and 7 cases, respectively, to connect the distal pulmonary and right ventricle outflow tract; and pulmonary valve reconstruction was performed in 38 patients using a Gore-tex monocusp. There were six in-hospital deaths and one delayed death 5 months after operation. After a mean follow-up of 55.8 ± 16.5 months (6-113 months), 19 patients underwent reoperation (3 with pulmonary patch enlargement, 14 with conduit replacement and 2 with aortic valve replacement) 10-89 months after the first operation, with 1 hospital death. The actuarial survival rates were 94.2, 93.3 and 93.3% at 1, 5 and 10 years, respectively. Freedom from reoperation was 98.0, 87.8 and 82.7% at 1, 5 and 10 years, respectively. The follow-up variables included echocardiography, chest radiography, cardiac CT and cardiac function. At the last examination, most of the patients exhibited an improvement of New York Heart Association functional class from III or IV preoperatively to I or II at follow-up. Surgical treatment for PTA has an acceptable survival rate and satisfactory outcomes. Most patients exhibited an improvement in cardiac function during follow-up. Aortic arch deformity, truncal valvular regurgitation and long cardiopulmonary bypass time were regarded as risk factors for hospital mortality. Autologous tissue has a lower reoperation rate and better growth potential than extracardiac conduits. A monocusp valve effectively reduces pulmonary regurgitation in the early postoperative stage. [ABSTRACT FROM AUTHOR]

Persistent truncus arteriosus is a rare congenital cardiac malformation. It is characterized by a single great artery arising from the heart which supplies the aorta, the origin of coronary arteries and pulmonary arteries. Without surgery, prognosis is poor and 90% of these patients die before one year of age. We report a rare case of an asymptomatic 35-year-old woman with uncorrected persistent truncus arteriosus and hypoplastic right and left pulmonary arteries. Hypoplastic branch pulmonary arteries prevented the development of severe pulmonary arterial hypertension. [ABSTRACT FROM AUTHOR]

Background: The true incidence of truncus arteriosus in underdeveloped countries is difficult to determine. This is due largely to underreporting as a result of nonavailability of technologically advanced facilities to make definitive diagnosis prenatally. There is a lack of data on the profile and outcome of patients with persistent truncus arteriosus (PTA) in Nigeria. This study aims to document the demographic characteristics, mode of presentation, indications for echocardiography, associated anomalies, average age at diagnosis, and outcome of patients with truncus arteriosus in our center. Methods: Prospective and cross-sectional involving consecutive patients diagnosed with PTA using echocardiography at the Paediatric Department of Lagos State University Teaching Hospital, Lagos, Nigeria as part of a large study between January 2008 and December 2015. Results: Only 25 patients had PTA during the study period. The prevalence of PTA among children presenting at the study center during the study period was 7.9/100,000. It constituted 2.4% of the cases of congenital heart disease and 7.1% of cases of cyanotic congenital heart disease. The male:female ratio was 1:1.1. The ages of the patients at diagnosis ranged between 0.75 and 153 months with a mean age at diagnosis ± standard deviation of 18.4 months ± 37.7. Only about 40% of patients were diagnosed within the neonatal period. Cyanosis was the most frequent indication for evaluation. Conclusion: PTA is as common in Nigeria as in the other parts of the world but diagnosed late. Cyanosis is the most common presenting feature. [ABSTRACT FROM AUTHOR]

Objective: Until now, no study established a morphometric evaluation of the truncal valve dysplasia and a description of its different presentation patterns. Thus, authors conducted an anatomopathological study describing the gross features and histological findings of the truncal valve.Methods: 50 common arterial trunk (CAT) specimens were examined. The number of valvar leaflets was determined and valvar dysplasia was classified as absent, mild, moderate or severe. Selected leaflets were sectioned and submitted to histological analysis and linear measurements (thickness, length and area), besides quantification of collagen area fraction.Results: 28 (56%) valves presented three, 15 (30%) four and 7 (14%) two leaflets. Valvar dysplasia was absent in 13 (26%) cases, mild in 19 (38%), moderate in 6 (12%) and severe in 12 (24%). A significant association was found between the presence of four leaflets and valvar dysplasia (p<0.001). Single coronary ostium was more common in two-leaflet cases than in three-leaflet cases (p=0.037). Leaflets medial thirds were thicker in the more dysplastic valves (p=0.006) and in those presenting anarchic collagen distribution (p=0.002).Conclusions: CAT semilunar valves present two main patterns. The first characterised by three leaflets and absent or mild dysplasia and the second by four leaflets and severe dysplasia. Still, great variability regarding thickness, microscopic organisation of the extracellular matrix and proportions of leaflets' dimensions exists, which may impact on the surgical outcomes. [ABSTRACT FROM AUTHOR]

Summary The embryonic process of forming a complex structure such as the heart remains poorly understood. Here, we show that Six2 marks a dynamic subset of second heart field progenitors. Six2- positive ( Six2 + ) progenitors are rapidly recruited and assigned, and their descendants are allocated successively to regions of the heart from the right ventricle (RV) to the pulmonary trunk. Global ablation of Six2 + progenitors resulted in RV hypoplasia and pulmonary atresia. An early stage-specific ablation of a small subset of Six2 + progenitors did not cause any apparent structural defect at birth but rather resulted in adult-onset cardiac hypertrophy and dysfunction. Furthermore, Six2 expression depends in part on Shh signaling, and Shh deletion resulted in severe deficiency of Six2 + progenitors. Collectively, these findings unveil the chronological features of cardiogenesis, in which the mammalian heart is built sequentially by temporally distinct populations of cardiac progenitors, and provide insights into late-onset congenital heart disease. [ABSTRACT FROM AUTHOR]

The surgical management of severe truncal valvular dysfunction is still challenging in neonates with persistent truncus arteriosus. This report describes a 14-day-old neonate with severe truncal valve insufficiency successfully undergoing truncal valve repairs, and followed by valve replacement at the age of 4 years. The truncal valve was quadricuspid with two large and two small leaflets, and all leaflets had severe dysplastic and myxomatous changes. We performed leaflet extension and bicuspidization valvuloplasty for this valve. This patient obtained somatic growth for 4 years without heart failure symptoms, and safely underwent prosthetic valve replacement. This technique would be effective for truncal valve dysfunction in neonates as the life-saving and the bridging procedure to valve replacement. [ABSTRACT FROM AUTHOR]

Embryologically, incomplete conotruncal septation with resultant single aortopulmonary trunk and defective ventricular septation defines the congenital cardiac lesion known as persistent truncus arteriosus (PTA). Torrential pulmonary blood flow is inevitable when this rare lesion is further compounded by patency of the arterial ductus. Such was the case of a patient who presented with fast breathing, reduced suck, darkening of the tongue, and extremities. Urgent echocardiographic diagnosis was PTA (Type A1) with patent ductus arteriosus and pulmonary hypertension and left ventricular systolic dysfunction. [ABSTRACT FROM AUTHOR]

Persistent truncus arteriosus (PTA) is a relatively uncommon congenital heart disease, accounting for approximately 0.7–1.4% of all congenital cardiac abnormalities worldwide. PTA is usually accompanied by a single semilunar valve, with leaflets ranging from one to six in number. However, absent semilunar valve (ASV) is rarely seen in PTA. Here, we report a case of prenatally diagnosed PTA accompanied by ASV (PTA-ASV) confirmed by postmortem autopsy. [ABSTRACT FROM AUTHOR]

Persistent Truncus Arteriosus (PTA) is an extremely rare defect accounting for under 1% of all congenital heart disease, and over 85% of patients succumb to heart failure in infancy. We report a case of van Praagh type A3 PTA, which represents its rarest variant and accounts for only 8–10% of all patients with PTA. The presence of ductal stenosis in such cases is further exceedingly rare.

We describe a neonate with a unique variant of truncus arteriosus with interrupted aortic arch, an absent ascending aorta, persistent right dorsal aorta, and an unusual brachiocephalic artery pattern in which all head and neck vessels were supplied from the ductal arch-descending aorta continuum. ( Level of Difficulty: Beginner. )., Competing Interests: The authors have reported that they have no relationships relevant to the contents of this paper to disclose., (© 2023 The Authors.)

Complete atrioventricular septal defect is generally diagnosed on the four-chamber view of the fetal heart. This defect can be accompanied by additional outflow tract lesions, including truncus arteriosus. Although truncus arteriosus in isolation can be associated with interrupted aortic arch, we describe a fetal case with the rare association of all three diagnoses: complete atrioventricular septal defect with truncus arteriosus and interrupted aortic arch. This case points to the importance of evaluating the complete fetal heart even after one congenital cardiac abnormality is noted. The complexity of heart disease has implications for prenatal counseling and postnatal management. [ABSTRACT FROM AUTHOR]

Background: Delayed or missed diagnosis of critical and cyanotic congenital heart disease (CHD) in asymptomatic newborns may result in significant morbidity and mortality. The aim of this study was to determine the accuracy of pulse oximetry screening performed on the first day of life for the early detection of critical and cyanotic CHD in apparently normal newborns. Methods: This cross-sectional study used postductal pulse oximetry to evaluate term neonates born between 2008 and 2011 with normal physical examinations. Functional oxygen saturation < 95% was considered abnormal, and second measurement was done 2 hours later. If the second measurement remained < 95%, an echocardiogram was performed. On enrolment in the study, the following data for each neonate were recorded: gestational age, gender, birth weight, mode of delivery, and mother's age. Results: During the study period, totally 3,846 newborns were evaluated. Of the whole study population, 304(7.9%) babies had a postductal functional saturation < 95%. The second measurement was also < 95% in 104 (2.7%) neonates. The mean age of the neonates at the time of pulse oximetry was 18.91 ± 8.61 (min =4.5 and max = 49) hours. Forty-nine percent of the subjects were female and51% were male. Echocardiography was performed on 81 out of 104 newborns, and 14 (0.36%) of them had CHD. The types of CHD in our patients were tetralogy ofFallot (3 cases), transposition of the great vessels (2 cases), double-outlet right ventricle (2 cases), truncus arteriosus, total anomalous pulmonary venous return, atrioventricular septal defect, pulmonary atresia, persistent pulmonary hypertension, ventricular septal defect, and atrial septal defect (1 case for each type). The best time for pulse oximetry was within 8-24 hours of the newborns' life. Conclusion: Pulse oximetry screening along with clinical examination may be able to assist in the early detection of critical and cyanotic CHD in asymptomatic newborns. [ABSTRACT FROM AUTHOR]

Background: Persistent truncus arteriosus is a rare congenital condition with which survival into adulthood is dismal without surgery. This is the oldest patient reported to our knowledge demonstrating the feasibility of assessing operability in persistent truncus arteriosus with unilateral pulmonary stenosis, and performing full corrective surgery in adulthood.Case Presentation: We report a Chinese male with successful correction of Type I persistent truncus arteriosus at 33 years of age. He had unilateral pulmonary hypertension from migration of pulmonary artery band from the main to the right pulmonary artery, severe truncal valve regurgitation from previous infective endocarditis, and progressive congestive heart failure. Improvement of lung perfusion was demonstrated 21 months post operation.Conclusion: This case demonstrated that in patients with persistent truncus arteriosus and two pulmonary arteries, pulmonary vascular disease or underdevelopment of one lung does not preclude a full corrective surgery so long as the other vascular bed is normal. It is important to emphasize the importance of assessing patient's operability in totality. [ABSTRACT FROM AUTHOR]

Background: Retinoic acid (RA), the bioactive derivative of vitamin A, is essential for vertebrate heart development. Both excess and reduced RA signaling lead to cardiovascular malformations affecting the outflow tract (OFT). To address the cellular mechanisms underlying the effects of RA signaling during OFT morphogenesis, we used transient maternal RA supplementation to rescue the early lethality resulting from inactivation of the murine retinaldehyde dehydrogenase 2 ( Raldh2) gene. Results: By embryonic day 13.5, all rescued Raldh2−/− hearts exhibit severe, reproducible OFT septation defects, although wild-type and Raldh2+/− littermates have normal hearts. Cardiac neural crest cells (cNCC) were present in OFT cushions of Raldh2−/− mutant embryos but ectopically located in the periphery of the endocardial cushions, rather than immediately underlying the endocardium. Excess mesenchyme was generated by Raldh2−/− mutant endocardium, which displaced cNCC derivatives from their subendocardial, medial position. Conclusions: RA signaling affects not only cNCC numbers but also their position relative to endocardial mesenchyme during the septation process. Our study shows that inappropriate coordination between the different cell types of the OFT perturbs its morphogenesis and leads to a severe congenital heart defect, persistent truncus arteriosus. Developmental Dynamics 245:388-401, 2016. © 2015 Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Objective: This study aimed to report our experiences with surgical repair in patients of all ages with persistent truncus arteriosus. Methods: From July 2004 to July 2014, 50 consecutive patients with persistent truncus arteriosus who underwent anatomical repair were included in the retrospective review. Median follow-up time was 3.4 years (range, 3 months to 10 years). Results: Fifty patients underwent anatomical repair at a median age of 19.6 months (range, 20 days to 19.1 years). Thirty patients (60%) were older than one year. The preoperative pulmonary vascular resistance and mean pulmonary artery pressure were 4.1±2.1 (range, 0.1 to 8.9) units.m2 and 64.3±17.9 (range, 38 to 101) mmHg, respectively. Significant truncal valve regurgitation was presented in 14 (28%) patients. Hospital death occurred in 3 patients, two due to pulmonary hypertensive crisis and the other due to pneumonia. Three late deaths occurred at 3, 4 and 11 months after surgery. The actuarial survival rates were 87.7% and 87.7% at 1 year and 5 years, respectively. Multivariate analysis identified significant preoperative truncal valve regurgitation was a risk factor for overall mortality (odds ratio, 7.584; 95%CI: 1.335–43.092; p = 0.022). Two patients required reoperation of truncal valve replacement. One patient underwent reintervention for conduit replacement. Freedom from reoperation at 5 years was 92.9%. At latest examination, there was one patient with moderate-to-severe truncal valve regurgitation and four with moderate. Three patients had residual pulmonary artery hypertension. All survivors were in New York Heart Association class I-II. Conclusions: Complete repair of persistent truncus arteriosus can be achieved with a relatively low mortality and acceptable early- and mid-term results, even in cases with late presentation. Significant preoperative truncal valve regurgitation remains a risk factor for overall mortality. The long-term outcomes warrant further follow-up. [ABSTRACT FROM AUTHOR]

Heart outflow tract septation in mouse embryos carrying mutations in retinoic acid receptor genes fails with complete penetrance. In this mutant background, ectopic TGFβ signaling in the distal outflow tract is responsible for septation failure, but it was uncertain what tissue was responsive to ectopic TGFβ and why this response interfered with septation. By combining RAR gene mutation with tissue-specific Cre drivers and a conditional type II TGFβ receptor ( Tgfbr2 ) allele, we determined that ectopic activation of TGFβ signaling in the endocardium is responsible for septation defects. Ectopic TGFβ signaling results in ectopic mesenchymal transformation of the endocardium and thereby in improperly constituted distal OFT cushions. Our analysis highlights the interactions between myocardium, endocardium, and neural crest cells in outflow tract morphogenesis, and demonstrates the requirement for proper TGFβ signaling in outflow tract cushion organization and septation. [ABSTRACT FROM AUTHOR]