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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.

Surgical repair of Truncus arteriosus aims to improve long term survival. A clear understanding of the natural history and achievable surgical outcomes informs surgical decision making with respect to the timing of surgery. We sought to determine if it is ever too late to repair T. arteriosus. Pubmed and Google scholar were searched between January 1st 1966 and July 31st 2021. The proximal similarly model was used to determine the most externally valid natural history and surgical outcome data. The most externally valid data were used to develop a composite survival graph to help clinicians optimize surgical decision making. Four hundred and twenty eight results were retrieved. Five studies representing 938 patients who had repair of T. arteriosus were included for external validity assessment. The resultant composite graph suggests that repair after 5 month of age, may not improve 15 year survival when compared to non-operative care. T. arteriosus repair after 5 months of age may not improve survival. Key words: Pediatric, truncus artriosus, operative, outcomes.

Congenital heart defects (CHDs) affecting the cardiac outflow tract (OFT) constitute a significant cause of morbidity and mortality. The OFT develops from migratory cell populations which include the cardiac neural crest cells (cNCCs) and secondary heart field (SHF) derived myocardium and endocardium. The related transcription factors HAND1 and HAND2 have been implicated in human CHDs involving the OFT. Although Hand1 is expressed within the OFT, Hand1 NCC-specific conditional knockout mice (H1CKOs) are viable. Here we show that these H1CKOs present a low penetrance of OFT phenotypes, whereas SHF-specific Hand1 ablation does not reveal any cardiac phenotypes. Further, HAND1 and HAND2 appear functionally redundant within the cNCCs, as a reduction/ablation of Hand2 on an NCC-specific H1CKO background causes pronounced OFT defects. Double conditional Hand1 and Hand2 NCC knockouts exhibit persistent truncus arteriosus (PTA) with 100% penetrance. NCC lineage-tracing and Sema3c in situ mRNA expression reveal that Sema3c-expressing cells are mis-localized, resulting in a malformed septal bridge within the OFTs of H1CKO;H2CKO embryos. Interestingly, Hand1 and Hand2 also genetically interact within the SHF, as SHF H1CKOs on a heterozygous Hand2 background exhibit Ventricular Septal Defects (VSDs) with incomplete penetrance. Previously, we identified a BMP, HAND2, and GATA-dependent Hand1 OFT enhancer sufficient to drive reporter gene expression within the nascent OFT and aorta. Using these transcription inputs as a probe, we identify a novel Hand2 OFT enhancer, suggesting that a conserved BMP-GATA dependent mechanism transcriptionally regulates both HAND factors. These findings support the hypothesis that HAND factors interpret BMP signaling within the cNCCs to cooperatively coordinate OFT morphogenesis.

AIM: The adapter protein p130Cas, encoded by the Bcar1 gene, is a key regulator of cell movement, adhesion, and cell cycle control in diverse cell types. Bcar1 constitutive knockout mice are embryonic lethal by embryonic days (E) 11.5-12.5, but the role of Bcar1 in embryonic development remains unclear. Here, we investigated the role of Bcar1 specifically in cardiovascular development and defined the cellular and molecular mechanisms disrupted following targeted Bcar1 deletions. METHODS AND RESULTS: We crossed Bcar1 floxed mice with Cre transgenic lines allowing for cell-specific knockout either in smooth muscle and early cardiac tissues (SM22-Cre), mature smooth muscle cells (smMHC-Cre), endothelial cells (Tie2-Cre), second heart field cells (Mef2c-Cre), or neural crest cells (NCC) (Pax3-Cre) and characterised these conditional knock outs using a combination of histological and molecular biology techniques.Conditional knockout of Bcar1 in SM22-expressing smooth muscle cells and cardiac tissues (Bcar1SM22KO) was embryonically lethal from E14.5-15.5 due to severe cardiovascular defects, including abnormal ventricular development and failure of outflow tract (OFT) septation leading to a single outflow vessel reminiscent of persistent truncus arteriosus. SM22-restricted loss of Bcar1 was associated with failure of OFT cushion cells to undergo differentiation to septal mesenchymal cells positive for SMC-specific α-actin, and disrupted expression of proteins and transcription factors involved in epithelial-to-mesenchymal transformation (EMT). Furthermore, knockout of Bcar1 specifically in NCC (Bcar1PAX3KO) recapitulated part of the OFT septation and aortic sac defects seen in the Bcar1SM22KO mutants, indicating a cell-specific requirement for Bcar1 in NCC essential for OFT septation. In contrast, conditional knockouts of Bcar1 in differentiated smooth muscle, endothelial cells, and second heart field cells survived to term and were phenotypically normal at birth and post-natally. CONCLUSIONS: Our work reveals a cell-specific requirement for Bcar1 in NCC, early myogenic and cardiac cells, essential for OFT septation, myocardialisation and EMT/cell cycle regulation and differentiation to myogenic lineages. TRANSLATIONAL PERSPECTIVE: The molecular pathways coordinating cardiogenesis and the remodelling of the OFT are complex, and dysregulation of these pathways causes human heart defects. Our findings highlight a specific requirement for Bcar1 essential for cardiogenesis. Furthermore, the failure of OFT septation in Bcar1SM22KO mice resembles persistent truncus arteriosus (PTA), a feature of several human congenital heart diseases, including DiGeorge Syndrome. Our findings have implications for the mechanisms underlying the pathogenesis of congenital heart disease, and suggest that mice with conditional Bcar1 deletions may be useful models for dissecting mechanisms involved in the pathogenesis of human heart defects.

Truncus arteriosus is a congenital heart defect with high resource use, cost, and mortality. Value assessment (outcome relative to cost) can improve quality of care and decrease cost. This study hypothesized that truncus arteriosus repair at a high-volume center would result in better outcomes at lower cost (higher value) compared with a low-volume center.This study retrospectively analyzed a multicenter cohort of neonates undergoing truncus arteriosus repair (2004 to 2015) by using the Pediatric Health Information Systems database. Multivariate quantile, logistic, and negative binomial regression models were used to evaluate total hospital cost, in-hospital mortality, ventilation days, intensive care unit length of stay (LOS), hospital LOS, and days of inotropic agent use by center volume (high-volume3/year) and age at repair while adjusting for sex, ethnicity, race, genetic abnormality, prematurity, low birth weight, concurrent interrupted arch repair, and truncal valve repair.Of 1024 neonates with truncus arteriosus, 495 (48%) were treated at high-volume centers. Costs at the 75th percentile were lower at high-volume vs low-volume centers by $28,456 (P = .02) at all ages at repair. Patients at high-volume centers had lower median postoperative ventilation days (5 days vs 6 days; P.001), intensive care unit LOS (13 days vs 19 days; P.001), hospital LOS (23 days vs 28 days; P = .02), and inotropic agent use (3 days vs 4 days; P = .004). In-hospital mortality did not differ by center volume.In neonates undergoing truncus arteriosus repair, costs are lower and outcomes are better at high-volume centers, thus resulting in higher value at all ages of repair. Value-based interventions should be considered to improve outcomes and decrease cost in truncus arteriosus care.

A 6-month-old, female, domestic shorthair cat weighing 1.8 kg presented with cardiomegaly seen on radiographs taken at a primary care veterinary center. Echocardiography revealed a single enlarged vessel overriding a ventricular septal defect and severe hypertrophy of the right ventricular free wall. There was no evidence of a pulmonary arterial trunk originating from the heart. The blood flow through the ventricular septal defect exhibited right-to-left shunting. The cat suddenly experienced dyspnea and died at home, and a postmortem examination was performed. A single large vessel was noted leaving the heart, from which the right and left pulmonary arteries arose separately; a main pulmonary artery was absent. There was only one single anomalous coronary ostium that arose from the brachiocephalic artery and divided into two branches. The walls of the extracardiac coronary artery were thick, but neither infarcts nor narrowing was observed within the coronary arteries. There were no abnormalities in the intracardiac coronary artery. These findings revealed a persistent truncus arteriosus with an anomalous coronary artery. A combination of these anomalies might have contributed to the early death of the cat.

Surgery for truncus arteriosus has an early mortality of 3% to 20%, with a long-term survival of approximately 75% at 20 years. Nowadays, truncus arteriosus repair is mostly done in the neonatal period together with a single-staged repair of concomitant cardiovascular anomalies. There are many challenging subgroups of patients with truncus arteriosus, including those with clinically significant truncal valve insufficiency, an interrupted aortic arch, or a coronary artery anomaly. In fact, truncal valve competency appears to be the most important factor influencing the outcomes after truncus arteriosus repair. The use of a conduit during truncus arteriosus repair invariably requires reoperation on the right ventricular outflow tract. Through improvements in perioperative techniques over time, many children are now living well into adulthood after repair of truncus arteriosus, albeit with a high rate of reoperation. Despite this, the long-term outcomes of truncus arteriosus repair are good, with many patients being asymptomatic and with a quality of life comparable to the general population.

Objectives Aortic valve reconstruction (AVRec) with neocuspidization or the Ozaki procedure with complete cusp replacement for aortic valve disease has excellent mid-term results in adults. Limited results of AVRec in pediatric patients have been reported. We report our early outcomes of the Ozaki procedure for congenital aortic and truncal valve disease. Methods A retrospective analysis was performed on all 57 patients with congenital aortic and truncal valve disease who had a 3-leaflet Ozaki procedure at a single institution from August 2015 to February 2019. Outcome measures included mortality, surgical or catheter-based reinterventions, and echocardiographic measurements. Results Twenty-four patients had aortic regurgitation (AR), 6 had aortic stenosis (AS), and 27 patients had AS/AR. Two patients had quadricuspid valves, 26 had tricuspid, 20 had bicuspid, and 9 had unicusp aortic valves. Four patients had truncus arteriosus. Thirty-four patients had previous aortic valve repairs and 5 had replacements. Preoperative echocardiography mean annular diameter was 20.90 ± 4.98 cm and peak gradient for patients with AS/AR was 53.62 ± 22.20 mm Hg. Autologous, Photofix, and CardioCel bovine pericardia were used in 20, 35, and 2 patients. Eight patients required aortic root enlargement and 20 had sinus enlargement. Fifty-one patients had concomitant procedures. Median intensive care unit and hospital length of stay were 1.87 and 6.38 days. There were no hospital mortalities or early conversions to valve replacement. At discharge, 98% of patients had mild or less regurgitation and peak aortic gradient was 16.9 ± 9.5 mm Hg. Two patients underwent aortic valve replacement. At median follow-up of 8.1 months, 96% and 91% of patients had less than moderate regurgitation and stenosis, respectively. Conclusions The AVRec procedure has acceptable short-term results and should be considered for valve reconstruction in pediatric patients with congenital aortic and truncal valve disease. Longer-term follow-up is necessary to determine the optimal patch material and late valve function and continued annular growth.

Common arterial trunk (persistent truncus arteriosus) is a rare, congenital heart anomaly and characterized by Ventricular Septal Defect (VSD), single truncal valve, and a common ventricular outflow tract. We reported a case of truncus arteriosus type 1 in the fetus of a 28 years-old G2-P1-L1 pregnant female at 24 weeks of gestational age with large sub truncul VSD, truncal overriding, and main pulmonary artery bifurcation to the right and left pulmonary arteries.

Truncus arteriosus (TA) is a major congenital cardiac malformation that requires surgical repair in the first few weeks of life. Interrupted aortic arch (IAA) is an associated malformation that significantly impacts the complexity of the TA operation. The aim of this study was to (1) define the comorbid conditions associated with TA and (2) determine the hospital survival and morbidity of patients with TA with and without an IAA. Data was collected from the Vizient Clinical Database/Resource Manager, formerly University HealthSystem Consortium, which encompasses more than 160 academic medical centers in the United States. The database was queried for patients admitted from 2002 to 2016 who were ≤ 4 months of age at initial admission, diagnosed with TA, and underwent complete surgical repair during that hospitalization. Of the 645 patients with TA who underwent surgery, 98 (15%) had TA with an interrupted aortic arch (TA-IAA). Both TA and TA-IAA were associated with a high prevalence of comorbidities, including DiGeorge syndrome, prematurity, and other congenital malformations. There was no difference in mortality between TA and TA-IAA (13.7–18.4%, p value = 0.227). No comorbid conditions were associated with an increased mortality in either group. However, patients with TA-IAA had a longer post-operative length of stay (LOS) compared to those without IAA (30 versus 40.3 days, p value = 0.001) and this effect was additive with each additional comorbid condition. In conclusion, the addition of IAA to TA is associated with an increased post-operative LOS, but does not increase in-hospital mortality.

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.

Truncal valve insufficiency is one of the most important factors influencing the outcomes of truncus arteriosus repair. Approximately one-quarter of patients with truncus arteriosus have truncal valve insufficiency. Children with a quadricuspid truncal valve are more likely to have moderate or greater truncal valve insufficiency. Furthermore, most children with moderate or greater insufficiency will likely require truncal valve surgery at some stage during their lifetime. However, truncal valve repair is often not durable and likely requires reoperation. Quadricuspid truncal valve repair utilizing leaflet resection and annular reduction appears to give the best durability. Herein, we describe the surgical techniques for addressing truncal valve insufficiency in neonates and infants. We place particular emphasis on annular reduction, and in the case of the quadricuspid truncal valve, the combination of leaflet resection and annular reduction. The technique described should avoid some surgical pitfalls in these challenging patients and provide a more durable repair.

Although the clinical outcomes of truncus arteriosus (TA) repair have been improving, few data are available on long-term outcomes after truncus arteriosus repair in the current era. This study evaluated long-term outcome after repair of TA. Fifty-one patients underwent total correction from April 1982 to June 2018. Since 2003, perioperative strategy has changed to minimal priming volume, modified ultrafiltration, and early total repair (n = 26). Mortality and reoperation rates were analyzed before and after 2003. There were 8 hospital deaths after initial operation, all before 1997. During the mean follow-up of 9.8 years, there were 2 deaths. The Kaplan-Meier estimate of survival among all hospital survivors was 94.7% at 5 years and 88.0% at 20 years. A significant independent risk factor for early mortality was operation before 2003 (Hazard ratio (HR) 9.710, p = 0.041) and REV operation (HR 8.000, p = 0.028). Freedom from reoperation for conduit change and TV repair were 88.3% and 41% at 1 and 5 years, and 96.2% and 85.4% at 1 and 5 years, respectively. After 2003, younger age and conduit choice were risk factors for conduit-related reoperation. Initial preoperative TV regurgitation was independent risk factor for sequential TV repair. Patients with TA can undergo total repair of TA with excellent results, especially in current era. Most of the patients require conduit-related reoperations. Younger age and the methods of RVOT reconstruction were risk factors for conduit-related reoperations. TV repair is necessary in limited patients, and initial regurgitation was a risk factor.

Objectives: To characterize the pattern of congenital heart diseases (CHDs) in Madinah, Saudi Arabia. Methods : We retrospectively collected and analyzed the demographic and diagnostic details of all patients with CHDs referred at Madinah Cardiac Center (MCC) over a period of 3 years from January 2017 to December 2019. Results: During the study period, 1,127 patients with CHDs were identified. The male to female ratio was 1.1:1, with a mean age of 8.4±2.4 years. The acyanotic CHDs were the predominant lesions, accounting for 84.8% of all cases, while the cyanotic types accounted for 13%. Patent ductus arteriosus (PDA), ventricular septal defects (VSD), atrial septal defects (ASD), coarctation of the aorta (CoA), and atrioventricular septal defect (AVSD) were the most common acyanotic CHDs and represented 27.9%, 24.8%, 18.9%, 6.4%, and 4.4% of the total cases, respectively. Tetralogy of Fallot (ToF) (8.7%), followed by transposition of the great arteries (TGA) (1.7%) and truncus arteriosus (1.1%), were the most common cyanotic CHDs. There was a male predominance of VSD, ToF, CoA, TGA, and truncus arteriosus. In contrast, PDA, ASD, and AVSD were more common in females. Conclusion: The pattern of CHDs observed in our study and age at which the diagnosis of CHDs was made were different from the other national and international studies, which points to a diagnostic issue along with problems of awareness on the part of the general population. Saudi Med J 2020; Vol. 41 (9): 977-983 doi: 10.15537/smj.2020.9.25275 How to cite this article: Khoshhal SQ, Albasri AM, Morsy MMF, Alnajjar AA. The trends and patterns of congenital heart diseases at Madinah Cardiac Center, Madinah, Saudi Arabia. Saudi Med J. 2020 Sep;41(9):977-983. doi: 10.15537/smj.2020.9.25275.

Introduction Congenital heart defects (CHD) are common and are a frequent subject of research using large administrative databases such as the Pediatric Health Information System (PHIS) database. The capture rate of CHD within PHIS, however, has not been described. Methods The PHIS database includes inpatient encounters from over 52 tertiary care pediatric hospitals across the United States. We identified all patients less than 1 year of age with a cardiac defect in PHIS from 2010 to 2014 and compared these results with national prevalence estimates based on the National Birth Defects Prevention Network annual report, which served as the gold standard. Results The capture rate of CHD in PHIS ranged from 30 to 95% depending on the spectrum of severity and heterogeneity of the cardiac defect. The capture rate was higher for critical CHD (CCHD) at 66%, and all lesions with 70% or greater capture rate (interrupted aortic arch, truncus arteriosus, single ventricle, total anomalous pulmonary venous return, double outlet right ventricle, and hypoplastic left heart syndrome) fell within the CCHD category. Conclusions Just over half of the predicted CHD patients were identified using the PHIS database. Although there is a high capture rate for CHD that require early hospitalization, there is a low capture rate for defects with a wider spectrum of disease presentation. These attributes of the PHIS database should be used to frame previous and future research using PHIS to study CHD.

Truncal valve management in patients with truncus arteriosus is a clinical challenge, and indications for truncal valve intervention have not been defined. We sought to evaluate truncal valve dysfunction and primary valve intervention in patients with truncus arteriosus and determine risk factors for later truncal valve intervention. We conducted a retrospective cohort study of children who underwent truncus arteriosus repair at 15 centers between 2009 and 2016. Multivariable competing risk analysis was performed to determine risk factors for later truncal valve intervention. We reviewed 252 patients. Forty-two patients (17%) underwent truncal valve intervention during their initial surgery. Postoperative extracorporeal support, CPR, and operative mortality for patients who underwent truncal valve interventions were statistically similar to the rest of the cohort. Truncal valve interventions were performed in 5 of 64 patients with mild insufficiency; 5 of 16 patients with mild-to-moderate insufficiency; 17 of 35 patients with moderate insufficiency; 5 of 9 patients with moderate-to-severe insufficiency; and all 10 patients with severe insufficiency. Twenty patients (8%) underwent later truncal valve intervention, five of whom had no truncal valve intervention during initial surgical repair. Multivariable analysis revealed truncal valve intervention during initial repair (HR 11.5; 95% CI 2.5, 53.2) and moderate or greater truncal insufficiency prior to initial repair (HR 4.0; 95% CI 1.1, 14.5) to be independently associated with later truncal valve intervention. In conclusion, in a multicenter cohort of children with truncus arteriosus, 17% had truncal valve intervention during initial surgical repair. For patients in whom variable truncal valve insufficiency is present and primary intervention was not performed, late interventions were uncommon. Conservative surgical approach to truncal valve management may be justifiable.

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

Persistent Truncus Arteriosus is a cyanotic congenital heart anomaly in which a single trunk supplies both the pulmonary and systemic circulation, instead of a separate aorta and a pulmonary trunk. It is usually classified as a conotruncal anomaly. Due to parallel fetal circulation, truncus arteriosus does not cause any haemodynamic problem in utero. However it is a major problem postnatally and, if left untreated, approximately 80% of infants die within the first year. Diagnosis should be made early by radiologists and cardiologists due to fatal illness. We found it valuable to present a case of truncus arteriosus with computerized tomography findings because of its rare occurrence.

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.

GATA6 pathogenic variants primarily manifest a phenotype with pancreatic agenesis and cardiac malformations. However, additional congenital malformations affecting the biliary system, congenital diaphragmatic hernia and developmental delay have been reported. We report a newborn, prenatally diagnosed with truncus arteriosus and intrauterine growth restriction, who was postnatally found to have pancreatic agenesis associated with neonatal diabetes and hepatobiliary abnormalities. Whole exome sequencing identified a de novo, heterozygous mutation in the GATA6 gene (c.1366C>T; p.Arg456Cys). Further investigations revealed abnormalities not previously associated with GATA6 mutation, including unilateral thyroid lobe agenesis associated with congenital hypothyroidism, absent gall bladder, possible adrenal insufficiency, thrombocytopenia, and neonatal stroke.

Congenital heart defects (CHD) are the most common birth defect and are both clinically and genetically heterogeneous. Truncus arteriosus (TA), characterized by a single arterial vessel arising from both ventricles giving rise to the coronary, pulmonary and systemic arteries, is rare and only responsible for 1% of all CHD. Two consanguineous families with TA were previously identified to have homozygous nonsense variants within the gene NKX2-6. NKX2-6 is a known downstream target of TBX1, an important transcriptional regulator implicated in the cardiac phenotype of 22q11.2 microdeletion syndrome. Herein, we report two siblings with TA presumably caused by compound heterozygous NKX2-6 variants without a history of consanguinity. Two in-house cohorts with conotruncal defects (CTD) were sequenced for variants in NKX2-6 and no additional cases of biallelic NKX2-6 variants were identified. The similar phenotype of these cases, and the clustering of variants that likely result in a truncated protein that disrupts the homeobox domain, suggest that biallelic loss of function for NKX2-6 is a rare genetic etiology for TA in particular, and possibly other types of CHD.

Right ventricle to pulmonary artery (RV-PA) conduits are required for the surgical management of pulmonary atresia with ventricular septal defect and truncus arteriosus. Bioengineered RV-PA connections may address some of the shortcomings of homografts and xenografts, such as lack of growth potential and structural deterioration and may be manufactured to accommodate patient-specific anatomy. The aim of this study was to develop a methodology for in silico patient-specific design and analysis of RV-PA conduits.Cross-sectional imaging was obtained from patients with truncus arteriosus (n = 5) and pulmonary atresia with ventricular septal defect (n = 5) who underwent complete repair with a RV-PA conduit. Three-dimensional models of the heart were constructed by segmentation of the right ventricle, existing conduit, branch pulmonary arteries, and surrounding structures. A customized conduit design for each patient was proposed. Computational fluid dynamics analysis was performed and outputs, including wall shear stress and energy loss, were used to compare the performance of the existing conduits and the customized geometries.In this study, a methodology for patient-specific analysis of RV-PA conduit in silico was developed. The results of simulations for 10 patients showed between 23% and 56% decrease in the average wall shear stress and between 24% and 87% reduction in average power requirements in customized designs compared with the stenosed conduits, translating into better hemodynamic performance.Creation of an optimal conduit for an individual patient can be achieved using surgeon-guided design and computational fluid dynamics analysis. Manufacture of personalized RV-PA conduits may obviate the need for surgical customization to accommodate existing materials and provide superior long-term outcomes.

The 22q11.2 deletion syndrome has an estimated prevalence of 1 in 4-6,000 livebirths. The phenotype varies widely; the most common features include: facial dysmorphia, hypocalcemia, palate and speech disorders, feeding and gastrointestinal disorders, immunodeficiency, recurrent infections, neurodevelopmental and psychiatric disorders, and congenital heart disease. Approximately 60-80% of patients have a cardiac malformation most commonly including a subset of conotruncal defects (tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B), conoventricular and/or atrial septal defects, and aortic arch anomalies. Cardiac patients with a 22q11.2 deletion do not generally experience higher mortality upon surgical intervention but suffer more peri-operative complications than their non-syndromic counterparts. New guidelines suggest screening for a 22q11.2 deletion in the patient with tetralogy of Fallot, truncus arteriosus, interrupted aortic arch type B, conoventricular septal defects as well as those with an isolated aortic arch anomaly. Early identification of a 22q11.2 deletion in the neonate or infant when other syndromic features may not be apparent allows for timely parental screening for reproductive counseling and anticipatory evaluation of cardiac and noncardiac features. Screening the at-risk child or adult allows for important age-specific clinical, neurodevelopmental, psychiatric, and reproductive issues to be addressed.

Only two families have been reported with biallelic TMEM260 variants segregating with structural heart defects and renal anomalies syndrome (SHDRA). With a combination of genome, exome sequencing and RNA studies, we identified eight individuals from five families with biallelic TMEM260 variants. Variants included one multi-exon deletion, four nonsense/frameshifts, two splicing changes and one missense change. Together with the published cases, analysis of clinical data revealed ventricular septal defects (12/12), mostly secondary to truncus arteriosus (10/12), elevated creatinine levels (6/12), horse-shoe kidneys (1/12) and renal cysts (1/12) in patients. Three pregnancies were terminated on detection of severe congenital anomalies. Six patients died between the ages of 6 weeks and 5 years. Using a range of stringencies, carrier frequency for SHDRA was estimated at 0.0007–0.007 across ancestries. In conclusion, this study confirms the genetic basis of SHDRA, expands its known mutational spectrum and clarifies its clinical features. We demonstrate that SHDRA is a severe condition associated with substantial mortality in early childhood and characterised by congenital cardiac malformations with a variable renal phenotype.

Kabuki syndrome is a rare multiple anomalies syndrome associated with mutations in KMT2D or KDM6A. It is characterized by infantile hypotonia, developmental delay and/or intellectual disability, long palpebral fissures with everted lateral third of the lower eyelids and typical facial features. Intracranial anomalies occur infrequently in patients with KS and holoprosencephaly has only been recently described. Additionally, though congenital heart diseases are common in patients with KS, to our knowledge truncus arteriosus has never been reported in a patient with KS. We present an unusual case of KS in an infant with holoprosencephaly and truncus arteriosus with partial anomalous pulmonary venous return. Duo whole exome sequencing in our patient identified a pathogenic nonsense variant in exon 10 of KMT2D (c.2782C > T; p. Gln928*) establishing the diagnosis. This report further expands the phenotypic spectrum of patients with Kabuki syndrome and emphasizes the utility of performing large scale sequencing in neonates with multiple congenital anomalies.

Background:Truncus arteriosus is a rare CHD. Neonatal and early infancy repair is recommended though some cases may present late. The aim of our study is to investigate the current results of truncus arteriosus repair and to analyse the differences in outcome and reintervention need between early versus late truncus arteriosus surgical repair.Material and methods:In this cohort study, we reviewed all children who underwent truncus arteriosus repair from 2001 till 2021. We divided patients into two groups; early repair group including patients repaired at age less than 3 months and late repair group including patients who had repair at 3 months of age and later. We compared both groups for outcome variables.Results:Sixty-four children had truncus arteriosus repair including 48(75%) patients in early repair and 16(25%) patients in late repair groups. Peri-operative course was comparable between both groups. Post-surgery, we observed pulmonary hypertension in 6(12%) patients in early repair group comparing with 11(69%) patients in late repair group (p = 0.0001). In the last follow-up visit, pulmonary hypertension resolved in all early repair group patients while 6(37.5%) patients in late repair group continued to have pulmonary hypertension (p = 0.0001). Twenty-three(36%) patients required reintervention including 22(48%) in early repair group versus 1(6%) in late repair group (p = 0.007).Conclusion:In general, the outcome of early truncus arteriosus repair is excellent with resolution of pulmonary hypertension following early repair. Late repair caries higher risk of persistent pulmonary hypertension (37.5%). About one-third of the patients who had truncus arteriosus repair will require re-intervention within 38±38.4 months after initial surgery.

Background Patent ductus arteriosus (PDA) is one of most common congenital heart defects, it's a unique vascular structure that provides direct communication between pulmonary and systemic circulation. MDCT angiography is a good imaging modality for evaluation of the PDAs and detection of their exact morphological type; course and diameters, which is important before percutaneous closure or stenting procedure of the PDA, also for selection of closure hardware. The aim of this study was to assess the role of MDCT angiography in qualitative and quantitative evaluation of PDA and associated cardiac and\or extracardiac anomalies. Results Echocardiography detected PDA in 28\30 cases while cardiac MDCT detected PDA in all studied 30 cases confirmed by cardiac catheterization and/or operation. MDCT angiography had sensitivity 100% and specificity 100% for PDA detection. PDA originated from aortic isthmus in 15 cases, inferior surface of aortic arch in 11 cases and innominate artery in 4 cases. The most common morphological type of PDA was type A (cone\46.67%) followed by type C (tubular\23.3%), type D (complex\10%), type E (elongated\13.33%) and type B (window\6.67%). The spearman correlation coefficient test demonstrated poor correlation between size of aortic end and MPA (P = 0.75), and between size of pulmonary end and diameter of MPA (P = 0.99) and also demonstrated fair correlation between length of PDA and MPA (P = 0.018). PDA was isolated in 4\30 cases and associated with cardiac and\or extra cardiac anomalies in 26\30 cases included; ASD (n = 18), VSD (n = 16), pulmonary atresia (n = 7), transposition of great arteries (n = 5), teratology of Fallot (n = 4), aortic coarctation (n = 4), persistent truncus arteriosus (n = 3), tricuspid atresia (n = 3), anomalous of pulmonary venous return (n = 3), hypoplastic segment of aorta (n = 2), Ebstein's anomaly (n = 1), bicuspid aortic arch (n = 1) and left hypoplastic heart syndrome (n = 1). Conclusion Cardiac MDCT angiography was superior to Echocardiography in detection, quantitative and qualitative evaluation of PDA either isolated or associated with congenital cardiac and\or extracardiac anomalies and was superior to Echocardiography in detection of associated extracardiac anomalies rather than associated intra cardiac anomalies.

Anomalous origin of a single coronary artery arising from the innominate artery associated with coronary artery fistula and truncus arteriosus is extremely rare. We found this anomaly in a 16-month-old infant-girl who received Rastelli procedure during the operation. The three defects described above are rarely found together; indeed, such a case as ours may be the first reported in the literature.

Persistent truncus arteriosus is a rare congenital malformation of the heart. It arises from the ventricular cavity through a common ventriculo-arterial junction and is usually associated with doubly committed ventricular septal defect. Common arterial trunk arising from single ventricle is very rare. We describe a case of single arterial trunk arising from univentricular heart. The heart of an amphibian, such as frog has three chambers; two atria, single ventricle and common arterial trunk. Our case highlights the resemblance of primitive embryologic defect to amphibian heart.

A boy diagnosed with persistent truncus arteriosus and severe truncal valve regurgitation had uncontrollable heart failure. Thus, truncal valve repair, ventricular septal defect closure, and right ventricular outflow tract reconstruction were performed on the second day of life. We report about a neonate with severe truncal valve regurgitation who was successfully treated with autologous pericardial truncal valve leaflet reconstruction.

The surgical management of truncus arteriosus poses a constant challenge for the cardiac team treating the patient. A correct diagnosis, surgical therapy and post-operative management are crucial for the survival of the patient. Almost 30% of the patients show an abnormal number of leaflets in the truncal valve (TV), the majority being quadricuspid valves. Additionally, around 25% of the patients show some degree of TV incompetence. We demonstrate an effective way to reconstruct incompetent, quadricuspid valves with good post-operative outcome.

Truncus arteriosus (TA) is a rare congenital heart anomaly presenting with mild cyanosis and congestive heart failure. It occurs when the blood vessels coming out of the heart in the developing baby fail to separate completely during development, leaving a common trunk responsible for the pulmonary and systemic perfusion. There are several variants of TA, depending on the specific anatomy and arterial connection. We report a case of a full-term newborn who developed cyanosis and desaturation during the first day of life. Investigations and echocardiography were consistent with TA type IV. Prostaglandin infusion was immediately started, and then, a successful palliative right modified Blalock Taussig shunt was performed.

In congenital heart disease, the presence of structural defects affects blood flow in the heart and circulation. However, because the fetal circulation bypasses the lungs, fetuses with cyanotic heart defects can survive in utero but need prompt intervention to survive after birth. Tetralogy of Fallot and persistent truncus arteriosus are two of the most significant conotruncal heart defects. In both defects, blood access to the lungs is restricted or non-existent, and babies with these critical conditions need intervention right after birth. While there are known genetic mutations that lead to these critical heart defects, early perturbations in blood flow can independently lead to critical heart defects. In this paper, we start by comparing the fetal circulation with the neonatal and adult circulation, and reviewing how altered fetal blood flow can be used as a diagnostic tool to plan interventions. We then look at known factors that lead to tetralogy of Fallot and persistent truncus arteriosus: namely early perturbations in blood flow and mutations within VEGF-related pathways. The interplay between physical and genetic factors means that any one alteration can cause significant disruptions during development and underscore our need to better understand the effects of both blood flow and flow-responsive genes.

We report long-term outcome after one-stage, surgical repair, in a two months-old girl with persistent truncus arteriosus type I, II. The operation was carried out with the remodeling of the right ventricle, using a swine bicuspid pulmonary prosthesis. Twenty-six years later, the patient is in excellent clinical condition, CF I (NYHA), with normal peripheral oxygen saturation. Recent invasive and not invasive imaging show: absence of intracardiac shunt and growing of the right ventricle outlet tract and discrete double lesion of the pulmonary valve. The pulmonary flow directed uniformly for both lungs. In selected cases, the long-term prognosis of patients with persistent truncus arteriosus, undergoing early surgical repair, avoiding the use of valved conduit, makes for an excellent evolution, without new interventions. Endovascular procedures, now well standardized, for the implantation of a pulmonary valve stent, through a catheter, will allow an effective approach, in the presence of late obstructions, in patients who have undergone right ventricular remodeling, without the use of valved conduits.

Background One of the rare complex congenital anomalies is truncus arteriosus—modified Van Praagh’s type 3A. Survival of this type of truncus arteriosus child beyond infancy without surgical treatment is unreported. Anesthesiologists do anesthetize children with complex congenital heart disease during the cardiac catheterization study. The final diagnosis of such children is often made after the anesthesia and cardiac catheterization study. We report a 12-year-old with truncus arteriosus with absent right pulmonary artery and main pulmonary artery with multiple Major Aorto-Pulmonary Collateral Arteries. (MAPCAs) for the right lung, who is surviving without surgical treatment. Case presentation A 12-year-old girl was brought by her parents to Meenakshi Hospital at Thanjavur (India) with complaints of shortness of breath during respiratory infection. The patient was diagnosed to have congenital heart disease at 6 years of age and not on any treatment. There was no history of cyanotic spell. Her echocardiography revealed tetralogy of Fallot, situs solitus, levocardia, large mal-aligned ventricular septal defect with bidirectional shunt, VSD size 12 mm, pulmonary atresia, moderate tricuspid regurgitation (TR pressure gradient, 103 mmHg), thickened aortic valve, grade II aortic regurgitation, right ventricular hypertrophy, intact interatrial septum, dilated right atrium/right ventricle, dilated coronary sinus, and persistent left superior vena cava, good biventricular function 65%, multiple MAPCAs, no coarctation of aorta, normal veno atrial, atrio-ventricular connections, normal pulmonary venous drainage, and no pericardial effusion. She underwent cardiac catheterization study for further evaluation under anesthesia. Her final diagnosis was truncus arteriosus with absent right pulmonary artery and main pulmonary artery with multiple MAPCAs for right lung, (truncus arteriosus—modified Van Praagh’s type 3A). Conclusion An anesthesiologist may be encountering such patients during cardiac catheterization study or emergency non-cardiac surgery, where an understanding of the complex anatomy (the aorta, left pulmonary artery, coronary artery, all arising from the common arterial trunk, the truncus arteriosus) and the physiology of their circulation would help in safe anesthesia. From our report, we conclude intra venous ketamine along with regional analgesia would be safe for sedating such patients coming for cardiac catheterization study.

Reported pregnancies in women with repaired truncus arteriosus are rare. As a result of improved surgical techniques, more women with conotruncal defects are now reaching reproductive age. Multifactorial inheritance rather than single gene mutation is the causative agent of most congenital heart disease. The environment can play an important and varied role in direct transmission, particularly in incidences where genes predispose a defect. This may be one of the first reported cases discussing a pregnant mother with repaired truncus arteriosus and her fetus, prenatally diagnosed with a concordant truncal defect.

The cardiovascular magnetic resonance imaging (CMR) features of adults with repaired truncus arteriosus (rTA) are largely undefined. We sought to explore CMR characteristics in rTA and to identify associations between imaging findings and cardiovascular outcomes. Adults with rTA and CMR were identified and anatomic subtypes (1-4) were assigned (Collett and Edwards classification). CMR characteristics, clinical data at last follow-up and adverse cardiovascular outcome were recorded. Twenty-seven adults (19% male) were studied (median age at cardiovascular magnetic resonance 26 years [interquartile range 18 to 40]) over 5.2-year duration [interquartile range 2.5 to 7.5]. With the exception of mildly increased RV mass (30 ± 12 g/m2), cardiac chamber measurements were within the normal range. In CMR measurements, only pulmonary artery peak velocity differed in subtypes (highest in subtype 3, 318 ± 26 cm/s, p = 0.029). Number of cardiovascular interventions in adulthood was moderately correlated with left ventricular end-diastolic volume (r = 0.463, p = 0.015), left ventricular ejection fraction (r = 0.425, p = 0.027) and neoaortic root size (r = 0.398, p = 0.039). Cardiovascular events (nonmutually exclusive) in 5 of 27 patients (19%) included death (n = 1), heart failure (n = 1), ventricular tachycardia (n = 1), and atrial tachycardia (n = 3). Increased cardiovascular risk was associated with decreased right ventricular ejection fraction (odds ratio 1.153, confidence interval 1.003 to 1.326, p = 0.046) and smaller ascending aorta diameter (odds ratio 1.758, confidence interval 1.037 to 2.976, p = 0.036). In conclusion, decreased right ventricular ejection fraction and smaller ascending aorta on cardiovascular magnetic resonance were associated with adverse events in rTA.

OBJECTIVES To date, few studies have assessed the quality of life following congenital cardiac surgery. In this study, we aimed at determining the quality of life after truncus arteriosus (TA) repair using the Short Form 36 questionnaire in adult survivors. METHODS Seventy-three patients (age >18 years) who underwent TA repair at the Royal Children’s Hospital, Australia were identified for the study. Of these, 42 patients (58%, 42/73) participated in the study and completed the Short Form 36 questionnaire. The results of the 8 domains and the derived health state summary score (Short Form Six Dimension, SF-6D) were compared with age-matched Australian population controls, and with patients who underwent the arterial switch operation (ASO). RESULTS Compared with the age-matched Australian population, 18- to 24-year-old TA patients (31%, 13/42) had lower scores in 6 of 8 domains; 25- to 34-year-old TA patients (36%, 15/42) scored lower in 5 of 8 domains; and 35- to 44-year-old TA patients (33%, 14/42) scored lower in 4 of 8 domains. SF-6D scores were not significantly different between TA patients and the age-matched Australian population. Compared with patients who underwent ASO, 18-to 24-year-old TA patients scored lower in 3 of 8 domains; and 25- to 34-year-old TA patients scored lower in 2 of 8 domains. There was no significant difference in SF-6D scores between TA and patients who underwent the ASO. CONCLUSIONS Adult survivors of TA have similar quality of life compared with age-matched Australian controls measured by SF-6D. Despite a higher reoperation rate in TA patients, they have similar quality of life compared with ASO patients.

Objectives : The main objective of the study is to characterize the effects of genetic abnormalities/syndromes (GA/S) on perioperative outcomes of cardiac surgeries involving repair of conotruncal heart defects (CTHD). Design : The study involves a single-center retrospective analysis of patients who underwent complete repair of CTHDs (tetralogy of Fallot [TOF], truncus arteriosus, interrupted aortic arch, and ventricular septal defect with coarctation) between January 2000 and December 2015. The primary outcome was the post operative length of stay (PLOS). The secondary outcomes were mortality, cardiac complications, hematologic complications, infections, and number of medications-at-discharge. Setting : Cardiac intensive care unit in a tertiary pediatric hospital in South Florida that performs around 300 open-heart surgeries a year. Subjects : A total of 177 patients with CTHDs who underwent cardiac surgeries in the stated time period were included in the final study cohort. Measurements and Main Results :Majority of patients had TOF (72.5%) and 46 (26%) had GA/S. The most common GA/S was 22q11 deletion (37%). PLOS was significantly increased in patients with GA/S (P < 0.05). Patients with GA/S were 4.5 times more likely to have a postoperative cardiac complication, 4.2 times more likely to have a postoperative infection, and received 1.6 times more medications at discharge than those without GA/S. However, GA/S was not associated with increased perioperative mortality. Black patients were three times more likely to have a longer PLOS than White patients. Conclusions : Perioperative outcomes in patients with GA/S suggested an increased residual cardiovascular disease and increased resource usage. Notably, this is the first study demonstrating the effect of race and ethnicity on PLOS in CTHD patients.

Objectives We analysed a large series of truncus arteriosus repairs with a focus on early and late outcomes. Methods Ninety-seven consecutive patients who underwent truncus arteriosus repair (1997-2017) were included retrospectively. Univariable analysis for mortality and reintervention was performed. Results The early mortality rate decreased from 45% (1997-2007; 14/31) to 4.5% (2008-2017; 3/66) (P = 0.001). Repair beyond the neonatal period (P = 0.03) and direct connection for right ventricular outflow tract reconstruction (P = 0.001) were associated with early death by univariable analysis. Overall survival was 68 ± 6.0% at 15 years; a majority of the deaths (90%; 9/10) occurred within the first year after repair. Freedom from the first and second conduit reoperations at 10 years was 22.9% and 89%, respectively. Freedom from truncal valve (TrV) reoperation was 83.9% at 15 years. Initial TrV insufficiency ≥ moderate was associated with a TrV reoperation (P = 0.008) with freedom from TrV reoperation in this subgroup of 58.3% at 10 years. Freedom from TrV reoperation for quadricuspid and tricuspid TrVs was 66.8% and 93.8% at 10 years with 100% for bicuspid TrVs at 8 years. At the last follow-up, 98.5% (69/70) were in New York Heart Association functional class I-II. Conclusions In the current era, truncus arteriosus can be repaired with a low early mortality rate and a good long-term outcome. A significant reintervention burden still persists. Direct connection is associated with early mortality.

A 13-year-old girl with repaired truncus arteriosus and single right coronary artery presented with progressive exertional dyspnea for 1 year. She underwent initial cardiac repair at 6 weeks of age, followed by 2 subsequent right ventricle to pulmonary artery (RV-PA) conduit replacement surgeries

Background Literature describing morbidity and mortality after truncus arteriosus repair is predominated by single-center reports. We created and analyzed a multicenter dataset to identify risk factors for late mortality and right ventricle-to-pulmonary artery (RV-PA) conduit reintervention for this patient population. Methods We retrospectively collected data on children who underwent repair of truncus arteriosus without concomitant arch obstruction at 15 centers between 2009 and 2016. Cox regression survival analysis was conducted to determine risk factors for late mortality, defined as death occurring after hospital discharge and greater than 30 days after operation. Probability of any RV-PA conduit reintervention was analyzed over time using Fine-Gray modeling. Results We reviewed 216 patients with median follow-up of 2.9 years (range, 0.1 to 8.8). Operative mortality occurred in 15 patients (7%). Of the 201 survivors there were 14 (7%) late deaths. DiGeorge syndrome (hazard ratio [HR], 5.4; 95% confidence interval [CI], 1.6 to 17.8) and need for postoperative tracheostomy (HR, 5.9; 95% CI, 1.8 to 19.4) were identified as independent risk factors for late mortality. At least one RV-PA conduit catheterization or surgical reintervention was performed in 109 patients (median time to reintervention, 23 months; range, 0.3 to 93). Risk factors for reintervention included use of pulmonary or aortic homografts versus Contegra (Medtronic, Inc, Minneapolis, MN) bovine jugular vein conduits (HR, 1.9; 95% CI, 1.2 to 3.1) and smaller conduit size (HR per mm/m2, 1.05; 95% CI, 1.03 to 1.08). Conclusions In a multicenter dataset DiGeorge syndrome and need for tracheostomy postoperatively were found to be independent risk factors for late mortality after repair of truncus arteriosus, whereas risk of conduit reintervention was independently influenced by both initial conduit type and size.

Objectives The aim of this study was to describe the profile of Congenital Heart Disease [CHD] and access to definitive surgical or catheter-based care among children attending a regional referral hospital in Northern Uganda. Methods This was a retrospective chart review of all children aged less than 17 years attending Gulu Regional Referral Hospital Cardiac clinic from November 2013 to July 2017. Results A total of 295 children were diagnosed with CHD during the study period. The median age at initial diagnosis was 12 months [IQR: 4–48]. Females comprised 59.3% [n = 175] of cases. Diagnosis in the neonatal period accounted for only 7.5 % [n = 22] of cases. The commonest CHD seen was ventricular septal defect [VSD] in 19.7 % [n = 58] of cases, followed by atrioventricular septal defect (AVSD) in 17.3 % [n = 51] and patent ductus arteriosus (PDA) in 15.9 % [n = 47]. The commonest cyanotic CHD seen was tetralogy of Fallot [TOF] in 5.1 % [n = 15], followed by double outlet right ventricle [DORV] in 4.1 % [n = 12] and truncus arteriosus in 3.4% [n = 10]. Dextro-transposition of the great arteries [D-TGA] was seen in 1.3 % [n = 4]. At initial evaluation, 76 % [n = 224] of all CHD cases needed definitive intervention and 14 % of these children [n = 32] had accessed surgical or catheter-based therapy within 2 years of diagnosis. Three quarters of the cases who had intervention [n = 24] had definitive care at the Uganda Heart Institute (UHI), including all 12 cases who underwent catheter-based interventions. No mortalities were reported in the immediate post-operative period and in the first annual follow up in all cases who had intervention. Conclusions There is delayed diagnosis of most rural Ugandan Children with CHD and access to definitive care is severely limited. The commonest CHD seen was VSD followed by AVSD. The majority of patients who had definitive surgery or transcatheter intervention received care in Uganda.

Anatomy of subepicardial coronary arteries became a topic of investigation at autopsy in Florence (Italy) by Banchi in the early twentieth century, with the discovery of dominant and balanced patterns. Thereafter, in the 60's of the same century Baroldi in Milan did post-mortem injection with spectacular three-dimensional casts. Later Sones at the Cleveland Clinic introduced selective coronary arteriography for in vivo visualization of coronary arteries. In the present chapter we show these patterns, as well as normal variants of origin and course with questionable risk of ischemia, like myocardial bridge as well as origin of the left circumflex coronary artery from the right sinus with retroaortic course. As far as embryology, the coronary arteries and veins are epicardial in origin and finally connect the former with the aorta, and the latter with the sinus venosus. At the time of spongy myocardium, intramural blood supply derives directly by the ventricular cavities, whereas later, at the time of myocardial compaction, vascularization originates from the subepicardial network. The connection of the subepicardial plexus with the aorta occurs with prongs of the peritruncal ring, which penetrate the facing aortic sinuses. Septation of truncus arteriosus is not responsible for the final position of the coronary orifices. Infact in transposition of the great arteries coronary ostia are regularly located within facing sinuses of the anterior aorta.

Children seem to be less affected by SARS-CoV-2 infection. High risk categories should include patients with Congenital Heart Disease (CHD), both children and adults. We describe the case of a newborn with a postnatal diagnosis of Truncus Arteriosus (TA) type A1 without 22.q.11 deletion syndrome. Soon after birth, SARS-CoV-2 infection was transmitted by the father. Due to the onset of heart failure symptoms, diuretic therapy has been set up. For worsening of clinical conditions, inotropic support with milrinone was added. A progressive reduction of N-terminal-pro hormone BNP over the days has been observed. Fourteen days after the negativization of the nasopharyngeal swab, the patient underwent surgical repair with Cardiopulmonary Bypass (CPB). Postoperative course was not complicated and the patient was discharged in good clinical conditions. There is very little evidence suggesting the optimal timing for surgery in SARS-CoV-2 positive patients. With a lack of specific guidelines, current strategy suggests a symptom-based or a polymerase chain reaction (PCR) test-based approach. In our case it was challenging to determine COVID-19 impact on heart failure symptoms. Our case is the first describing the surgical correction of CHD in a 40 days year old patient, performed in CPB after 14 days from SARS-CoV-2 infection negativization.

Introduction Intestinal malformations, such as intestinal atresia, malrotation, and anorectal malformation, are rare events, but concurrent intestinal atresia and anorectal malformation are rare in combination. These anomalies have similar in utero and perinatal symptoms, which can make the diagnosis of both defects prenatally challenging. Presentation of case We present a case of a male infant with a prenatal diagnosis of truncus arteriosus who on a 32-week routine prenatal ultrasound was suspected to have an intestinal malformation. On day of life one, the patient was taken to the operating room and found to have both type IIIa ileal atresia and anorectal malformation with normal bowel in between. A complete work up for vertebral defects, anorectal malformation, cardiac septal defects, esophageal atresia, renal anomalies, and radial limb defects (VACTERL) anomalies did not reveal additional anomalies. Discussion In this case, prenatal information supported intestinal obstruction, and the rare combination of both intestinal atresia and anorectal malformation proved surprising and interesting. Conclusion We suggest providers be aware of the potential of multiple alimentary tract malformations to improve operative preparation and reduce the morbidity or mortality risk from repeat procedures when possible., Highlights • The combination of anorectal malformation and intestinal atresia is exceedingly rare. • This unique combination was found in a twin with the other twin having a normal intestinal tract. • A VACTERL workup is key to rule out other malformations.

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.

Objective To describe our short- and medium-term outcomes using the BioIntegral pulmonic conduit. Methods Between August 2018 and September 2019, the BioIntegral pulmonic valved conduit was used for right ventricular outflow tract reconstruction in 48 patients. The data were retrospectively retrieved from the patient charts. Results The median age at surgery was 36 months (interquartile range [IQR] = 18-62 months). The diagnoses were pulmonary atresia-ventricular septal defect in 28 patients, absent pulmonary valve in four patients, truncus arteriosus in six patients, TGA-VSD-PS in five patients, conduit stenosis in three patients, and left venticular outflow tract obstruction requiring a Ross operation in two patients. In the postoperative short-term follow-up, 15 patients out of 48 had a high fever. Of these, 12 patients had concomitantly elevated C-reactive protein levels. There were no patients with blood culture positivity. The median postoperative length of hospital stay was 14 days (IQR = 8-21 days). The overall mortality was 4% in two patients, one died of right ventricular failure and multiple organ failure and one died of pulmonary embolism. The two patients who died were not among the 15 patients with fever. However, four patients with fever underwent balloon angioplasty for conduit restenosis in their medium-term follow-up. Conclusion There was a high incidence of fever and adverse outcomes in the short-term postoperative follow-up of patients in whom the BioIntegral pulmonic valved conduit was implanted. Caution is advisable in using these conduits until there is convincing evidence about the sterilization and storage standards of these grafts.

This paper documents, for the first time, the in vivo size, geometry, and function of the different components of this important subtype of truncus arteriosus (pulmonary dominant). Previous descriptions were based on examining formalin-fixed (collapsed) specimens, or descriptions during operations. It is hoped that this information can be of value in designing operative treatment as well as interpreting future sequential imaging, with the aim of optimizing the results of comprehensive repair.