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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.

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.

BackgroundTo assess the morphological features of persistent truncus arteriosus (PTA) on low-dose dual-source computed tomography (DSCT) and compare its diagnostic value for associated cardiovascular anomalies with that of transthoracic echocardiography (TTE).Methods:Twenty-four PTA patients were enrolled in this retrospective study. The types of PTA, diameters of the truncus artery (TA), main pulmonary artery (MPA), right pulmonary artery (RPA), left pulmonary artery (LPA), and ventricular septal defect (VSD) on DSCT were recorded. Besides, all associated cardiovascular abnormalities were assessed. The diagnostic performance of DSCT and TTE for associated anomalies were compared. The effective doses of DSCT were calculated.Results:Four types were found: type A1(n=13/24, 54.17%), type A2(n=7/24, 29.16%), type A3（n=3/24, 12.50%）and type A4(n=1/24,4.17%). The mean diameter of VSD, TA, MPA, RPA, and LPA was 1.47±0.56cm, 3.92±1.56cm, 2.27±1.65cm, 1.48±0.74cm and 1.38±0.66cm, respectively. 78 associated cardiovascular anomalies were confirmed. The most common associated abnormalities were VSD (100%), right-sided aortic arch (33.33%) and aortopulmonary collateral vessels (29.17%). Although TTE was better at diagnosing intracardiac anomalies (accuracy:99.17% vs. 95%; sensitivity: 97.06% vs. 88.24%; specificity: 100% vs. 97.67%), DSCT had an advantage in diagnosing the associated cardiovascular abnormalities (accuracy: 98.61% vs. 96.07%; sensitivity: 94.87% vs. 82.05%; specificity: 99.44% vs. 99.15%). The estimated mean effective doses was 0.98±0.37mSv (＜1mSv). Conclusions:Low-dose DSCT could accurately confirm the morphological features of PTA. Compared to TTE, low-dose DSCT is a better diagnostic tool for associated cardiovascular abnormalities. Combining with TTE will be beneficial to provide more accurate information for clinical interventions.