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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.

Pulmonary aspergillosis associated with cyanotic congenital heart disease is a rare condition, which is known to have a poor prognosis. We report a case of a 21-year-old woman with truncus arteriosus and major aortopulmonary collateral arteries who underwent primary Rastelli procedure after thoracoscopic lobectomy for the management of progressive pulmonary aspergillosis.

Truncus arteriosus, an anomaly of the conotruncus, is an extremely rare congenital heart disease that affects 1.19% of all patients with congenital heart diseases. We present a surgical technique using an 8-mm cryopreserved aortic root homograft in the aortic position and a 12-mm pulmonary valved conduit in the right position that allowed us to correct this rare congenital malformation. The cryopreserved aortic root homograft was considered a priority option for surgical correction. The neonatal Bentall (micro-Bentall) procedure is a surgically demanding procedure but can be performed successfully by an experienced surgeon. If we were performing a non-salvage procedure, we would have chosen a decellularized allograft.

Persistent truncus arteriosus is a rare congenital heart disease with four variants, and the last being the rarest. The prognosis without surgical intervention is poor. In such cases, an echocardiography is not sufficient hence computed tomography (CT) imaging is required. We report a 26-year-old female with difficulty in breathing since childhood with cyanosis. Her echocardiography showed a ventricular septal defect (VSD) and the CT showed a single arterial trunk overriding the interventricular septum with a VSD, and the descending aorta giving rise to the pulmonary arteries suggestive of pseudo truncus, known as truncus arteriosus type IV.

Background Banding of the bilateral branch pulmonary arteries (PA) has evolved as a palliative method to limit the pulmonary blood flow in various complex congenital heart diseases. Although beneficial in small patients and in those with multiple co-morbidities, the duration of pulmonary artery banding along with growth and status of branch pulmonary arteries following de-banding are of concern in these patients. Case presentation We present a case of truncus arteriosus with interrupted aortic arch in whom bilateral PA banding was done in neonatal life. The corrective surgery was delayed by 13 months due to multiple infections and underlying co-morbid conditions. Although the surgery was delayed, the branch pulmonary arteries were of adequate size following the debanding procedure. Conclusion Branch PA augmentation may not always be necessary even in delayed corrective surgery following bilateral PA banding.

Background: Three-dimensional anatomic models have been used for surgical planning and simulation in pediatric congenital heart surgery. This research is the first to evaluate the potential cost-effectiveness of 3D anatomic models with the intent to guide surgeons and decision makers on its use.Method: A decision tree and subsequent Markov model with a 15-year time horizon was constructed and analyzed for nine cardiovascular surgeries. Epidemiological, clinical, and economic data were derived from databases. Literature and experts were consulted to close data gaps. Scenario, one-way, threshold, and probabilistic sensitivity analysis captured methodological and parameter uncertainty.Results: Incremental costs of using anatomical models ranged from -366€ (95% credibility interval: -2595€; 1049€) in the Norwood operation to 1485€ (95% CI: 1206€; 1792€) in atrial septal defect repair. Incremental health-benefits ranged from negligible in atrial septal defect repair to 0.54 Quality Adjusted Life Years (95% CI: 0.06; 1.43) in truncus arteriosus repair. Variability in the results was mainly caused by a temporary postoperative quality-adjusted life years gain.Conclusion: For complex operations, the implementation of anatomic models is likely to be cost-effective on a 15 year time horizon. For the right indication, these models thus provide a clinical advantage at an acceptable cost.

OBJECTIVES To reveal the mid-term outcomes of Contegra implantation for the reconstruction of the right ventricular outflow tract to proximal branch pulmonary arteries in a multicentre study. METHODS Between April 2013 and December 2019, 178 Contegra conduits were implanted at 5 Japanese institutes. The median age and body weight at operation were 16 months (25th–75th percentile: 8–32) and 8.3 kg (6.4–10.6). Sixteen patients were neonates (9.0%). Selected conduit sizes were 12 mm in 28 patients (15.7%), 14 mm in 67 patients (37.6%), 16 mm in 66 patients (37.1%), 18 mm in 5 patients (2.8%) and RESULTS The overall, conduit explantation-free and conduit infection-free survival rates at 5 years were 91.3%, 71.0% and 83.7%, respectively. Infection (P = 0.009) and common arterial trunk (P = 0.024) were risk factors for explantation. Conduit durability was shorter in smaller one (P CONCLUSIONS Mid-term outcomes of reconstruction of the right ventricular outflow tract to the proximal branch pulmonary arteries with Contegra were acceptable. The need for explantation over time was higher in smaller conduits. Conduit infection was a strong risk factor for conduit explantation. Frequently and repeated catheter interventions effectively extended the conduit durability.

The association of anomalous pulmonary venous connections and truncus arteriosus is extremely rare and can complicate the surgical management of these patients. We report clinical findings and surgical approach in a female newborn with truncus arteriosus, patent ductus arteriosus with normal aortic arch, and partial anomalous pulmonary venous connection.

Objectives: Long-term survival in patients with truncus arteriosus (TA) is favorable, but there remains significant morbidity associated with need for ongoing re-interventions. The purpose of this study was to understand the long-term outcomes of the truncal valve (TV) and identify risk factors associated with the need for TV intervention. Methods: We retrospectively reviewed 170 patients who underwent initial TA repair at our institution from 1985-2015. Analysis of long-term outcomes was performed on the 148 patients who survived greater than 30 days post-operatively and to hospital discharge using multivariable competing risks Cox regression modeling. Results: Median follow up time was 12.6 years (IQR 5.0, 22.1 years) after full repair. Freedom from death or transplant at 1, 5, 10, and 20 years was 93.1 ± 2.1%, 88.0 ± 2.7%, 86.2 ± 3.0% and 78.3 ± 4.1%. Thirty patients (20%) underwent at least one intervention on the TV (22 repairs, 21 replacements). Freedom from any TV intervention at 1, 5, 10 and 20 years was 99 ± 1%, 94 ± 8%, 82 ± 9%, and 70 ± 5%. Of those with TV repair, 59% subsequently underwent TV replacement. Independent risk factors for need for TV intervention included ≥moderate TV regurgitation (TVR) (HR 4.77, p Conclusion: Long-term need for TV intervention remains significant. Moderate or worse initial TVR or stenosis, residual TVR after initial TA repair, and single coronary ostium are risk factors associated with need for subsequent TV intervention.

Background Long‐term survival in patients with truncus arteriosus is favorable, but there remains significant morbidity associated with ongoing reinterventions. We aimed to study the long‐term outcomes of the truncal valve and identify risk factors associated with truncal valve intervention. Methods and Results We retrospectively reviewed patients who underwent initial truncus arteriosus repair at our institution from 1985 to 2016. Analysis was performed on the 148 patients who were discharged from the hospital and survived ≥30 days postoperatively using multivariable competing risks Cox regression modeling. Median follow‐up time was 12.6 years (interquartile range, 5.0–22.1 years) after discharge from full repair. Thirty patients (20%) underwent at least one intervention on the truncal valve during follow‐up. Survival at 1, 10, and 20 years was 93.1%, 87.0%, and 80.9%, respectively. The cumulative incidence of any truncal valve intervention by 20 years was 25.6%. Independent risk factors for truncal valve intervention included moderate or greater truncal valve regurgitation (hazard ratio [HR], 4.77; P P P z ‐score before truncus arteriosus full repair and during follow‐up was associated with worsening truncal valve regurgitation. Conclusions Long‐term rates of truncal valve intervention are significant. At least moderate initial truncal valve stenosis and initial or residual regurgitation are independent risk factors associated with truncal valve intervention. Larger truncal valve root z ‐score is associated with significant truncal valve regurgitation and may identify a subset of patients at risk for truncal valve dysfunction over time.

Background: Congenital heart disease (CHD) is the most common congenital anomaly in children. Over half of the deaths due to CHD occur in the neonatal period. Most children with unrepaired complex heart lesions do not live to celebrate their first birthday. We describe the spectrum of congenital heart disease in Uganda. Methods: We retrospectively reviewed the data of children with CHD who presented to the Uganda Heart Institute (UHI), Mulago Hospital Complex from 2007 to 2014. Results: A total of 4621 children were seen at the UHI during the study period. Of these, 3526 (76.3%) had CHD; 1941(55%) were females. Isolated ventricular septal defect (VSD) was the most common CHD seen in 923 (27.2%) children followed by Patent ductus arteriosus (PDA) 760 (22%) and atrial septal defects (ASD) 332 (9.4%). Tetralogy of Fallot (TOF) and Truncus arteriosus were the most common cyanotic heart defects (7% and 5% respectively). Dysmorphic features were diagnosed in 185 children, of which 61 underwent genetic testing (Down syndrome=24, 22q11.2 deletion syndrome n=10). Children with confirmed 22q11.2 deletion had conotruncal abnormalities. Conclusion: Isolated VSD and Tetralogy of Fallot are the most common acyanotic and cyanotic congenital heart defects. We report an unusually high occurrence of Truncus arteriosus. Keywords: Congenital heart disease; children; Uganda.

Truncus arteriosus, interrupted aortic arch and amniotic band syndrome are rare conditions. We report a case of a 38-year-old pregnant woman who was diagnosed on a routine morphological ultrasound scan with a Van Praagh type A4 persistent truncus arteriosus with an aortic arch interruption type B and abnormal limbs (oedematous left hand, hypoplastic fingers on the right hand and right big toe amputation). Elective termination of the pregnancy was carried out and the pathological examination confirmed all the sonographic findings. Furthermore, an amniotic band parallel to the umbilical cord undetected during the ultrasound scans was revealed, and was entangled around the right hand, left wrist and the umbilical cord, causing strangulation. We present the unusual association of these independent pathologies and emphasise the usefulness of fetal autopsy in all cases of pregnancy termination and abnormal ultrasound findings to make the complete diagnosis.

BACKGROUND: Congenital disorders of glycosylation (CDG) are a group of metabolic disorders well known to be associated with developmental delay and central nervous system anomalies. The most common CDG is caused by pathogenic variants in the phosphomannomutase 2 gene (PMM2), which impairs one of the first steps of N-glycosylation and affects multiple organ systems. Cardiac involvement can include pericardial effusion, cardiomyopathy, and arrhythmia, while an association with cardiovascular congenital anomalies is not well studied. CASE SUMMARY: We report a 6-year-old individual who initially presented with inverted nipples, developmental delay, and failure to thrive at 3 months of age. At 4 months, due to feeding problems, swallowing exam and echocardiography were performed which revealed a vascular ring anomaly based on a right aortic arch and aberrant left subclavian artery. Subsequent whole exome gene sequencing revealed two pathogenic PMM2-CDG variants (E139K/R141H) and no known pathogenic mutations related to congenital heart defect (CHD). DISCUSSION: This is the first report of vascular ring anomaly in a patient with PMM2-CDG. We conducted a literature review of PMM2-CDG patients with reported CHD. Of the 14 patients with PMM2-CDG and cardiac malformation, the most common CHD's were tetralogy of Fallot, patent ductus arteriosus, and truncus arteriosus. The potential important link between CDG and CHD is stressed and discussed. Furthermore, the importance of multidisciplinary care for CDG patients including early referral to pediatric cardiologists is highlighted. ispartof: JIMD Rep vol:56 issue:1 pages:27-33 ispartof: location:United States status: Published online

OBJECTIVES Although primary repair in early infancy has for decades been the prevalent strategy for management of truncus arteriosus (TA), recent concerns about the levels of morbidity and mortality have led to consideration of a staged surgical approach. Our goal was to describe recent patterns of management, to characterize patients who underwent primary or staged repair and to evaluate risk factors associated with operative mortality in a contemporary multicentre cohort. METHODS In the Japanese Cardiovascular Surgery Database, we identified all cases of TA undergoing an initial surgical procedure from 2008 to 2018. Operative mortality was defined as death within 30 days of an operation or in-hospital death regardless of the length of hospital stay. The hospital volume was defined by the average volume of TA repairs per year. RESULTS The total number of patients undergoing initial surgery for TA was 286. Sixty-eight (24%, 68/286) underwent primary repair (primary repair group). The remaining 218 (76%, 218/286) underwent initial bilateral pulmonary artery banding as part of a planned staged approach (staged repair group). One hundred sixty-two patients out of 218 initially banded patients underwent the repair of TA during this study period. Concomitant diagnoses in the entire cohort included interrupted aortic arch repair in 36 patients and truncal valve regurgitation in 32. No centres handling an average of ≥2 truncus cases/year of the repair of TA were identified in this cohort. A total of 30% (85/286) of the cases were performed at centres that handled an average of ≥1 and CONCLUSIONS The staged repair of TA has emerged as the preferred option for surgical timing at most of the centres participating in the Japanese Cardiovascular Surgery Database. The management outcomes of the patients with TA were favourable, even for the patients at low-volume centres.

Background Congenital heart defect affects around 10 in a 1000 live born babies. Truncus arteriosus is a rare conotruncal defect in which a common arterial trunk supplies systemic, pulmonary and coronary circulation. The incidence of truncus arteriosus is quoted between 1–2% of all congenital heart malformations. Aim To evaluate the initial neonatal management and outcomes of newborns with truncus arteriosus. Method We conducted a retrospective review of all newborns with truncus arteriosus admitted to our neonatal unit between 01/04/2009 and 31/03/2019. Data were collected from Badger and Cardiology databases to evaluate the initial neonatal management and long-term outcomes of this cohort of patients. Results Sixteen newborns with truncus arteriosus were admitted to our neonatal unit in the last 10 years. Their mean gestational age was 36 weeks with a mean birth weight of 2407 grams. Cardiac defects were detected prenatally in 13 patients (82%). Three babies were diagnosed postnatally. One following failed pulse oximetry screening requiring non-invasive respiratory support and 2 diagnosed following on-going respiratory support on echocardiography. Respiratory support was initiated within the first 24 hours of life in 8 patients; these included all patients with a postnatal diagnosis of truncus arteriosus. Four patients required mechanical ventilation. Whilst in the neonatal intensive care unit, 3 babies developed heart failure and were treated with diuretics and 2 developed necrotising enterocolitis which was managed conservatively. Median length of stay before transfer to our local surgical cardiology centre was 3 days. Fourteen patients (87%) underwent common arterial trunk repair. 11 (78%) babies survived to date. Two patients died in the initial post-operative period and one patient at 14 months of age. The remaining two patients did not receive any surgical intervention and subsequently died (4 and 11 days old). Conclusion Truncus arterisus is a rare conotruncal defect with the majority being detected antenatally in our cohort. They are likely to require respiratory support in the neonatal period. Despite the complex nature of their congenital heart disease, their surgical outcomes are good in our cohort of babies. The following information can be used when counselling parents antenatally and managing their expectations.

Fetal echocardiography continues to be the first line investigation for detecting congenital heart diseases (CHD). As accurate and complete diagnosis of complex heart disease is often difficult in ...

Background The purpose of this study was to determine whether aortic biomechanical properties are abnormal in children with repaired truncus arteriosus (TA) and to concurrently evaluate left ventricular (LV) function post-repair utilizing a novel platform for regional ventricular function. Methods Cardiac magnetic resonance (CMR) studies from 26 children (mean age: 15.6 ± 7.2 years) post-TA repair were compared with 20 normal controls (mean age: 14.7 ± 2.6 years). Parameters of aortic stiffness (pulse wave velocity and relative area change) were measured. Flow hemodynamic metrics (aortic regurgitant fraction, peak systolic flow, and peak systolic velocity) and LV function (volumetric data, ejection fraction, regional wall strain) were also compared. Results Ascending aortic pulse wave velocity was elevated and relative area change was decreased in TA patients compared with controls. Patients post-TA repair demonstrated elevated end diastolic and end systolic volumes in addition to decreased regional wall strain and increased mechanical dyssynchrony. LV functional changes were independent of aortic biomechanical properties. Conclusions Children with repaired TA have increased ascending aortic stiffness and altered LV function as measured by CMR imaging. Longitudinal studies and advanced CMR assessments are warranted to better determine the long-term potential for late aortic complications and to optimize both the medical and surgical management of these patients after TA repair.

Truncus arteriosus (TA) is a relatively uncommon cyanotic congenital cardiac anomaly accounting for 1.3% of all congenital cardiac malformations. TA associated with an ascending aortic aneurysm is an extremely rare congenital cardiovascular abnormality. A 15-year-old male presented with shortness of breath and cough for 2 weeks. Radiological examinations showed that the ascending aorta and main pulmonary arteries originate from a single truncus with ascending aortic aneurysm. TA has a poor prognosis if remain unrepaired and surgical intervention is necessary to avoid severe pulmonary vascular occlusive disease.

Introduction: Congenital unilateral absence of pulmonary artery (UAPA) is a rare congenital anomaly with the complete absence of intrapericardial segment of one of the branch pulmonary arteries. Sixty percent are associated with other congenital heart defects (CHD) that often need correction. Aim To analyze the data of patients with UAPA and ipsilateral non-unifocalizable major aortopulmonary collateral arteries (MAPCAs) associated with other CHD to identify the commonly associated CHD, their management strategies and outcomes. Materials and Methods: Retrospective data of patients admitted for congenital UAPA with other CHD was compiled from hospital records from 2002 to 2015. The associated CHD were categorized as group I with the decreased pulmonary flow and group II with increased pulmonary flow to the unaffected contralateral pulmonary artery. The determinants of their management were analyzed. Results: Sixty-five patients of UAPA and ipsilateral non-unifocalizable MAPCAs associated with other CHD were identified. Group I had 41 patients and Group II had 24. The most common CHD associated with UAPA was tetralogy of Fallot (TOF) in 31 patients (47.7.2%). Fifty-three patients underwent surgery, 48 (73.8%) underwent single lung corrective surgery, 5 (7.6%) palliative surgery and 12 (18.4) received no surgery. Four operated patients died in the immediate postoperative period. The lowest Mc Goon ratio and Nakata index to undergo corrective surgery were 1.0 and 87.4 mm2/m2. A follow-up of 21 patients was done, among which 11 patients who underwent single-stage corrective surgery, all are in NYHA class II and saturating above 95%. Conclusions: Congenital UAPA is a rare anomaly and associated with a variety of CHDs, TOF being the most common. Single lung corrective surgery in patients with ipsilateral non-unifocalizable MAPCAs has good immediate and long term survival.

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

The association of truncus arteriosus (TA) and an intramural coronary artery is rare. Seven (7) patients had TA and an intramural coronary artery at the Royal Children's Hospital, Melbourne between 1996 and 2018. Four (4) patients underwent concomitant unroofing of their intramural coronary artery. One (1) patient who did not undergo concomitant unroofing had a cardiac arrest on postoperative day 1 and subsequently underwent reoperation for coronary unroofing. Given the potential for serious complications, patients with TA and an intramural coronary artery may benefit from coronary unroofing with creation of a generous neo-ostium.

Background Evidence regarding associations between maternal asthma medication use and birth defects is mixed. Objective Estimate associations between asthma medciation use and 52 birth defects using National Birth Defects Prevention Study data from 1997 to 2011. Methods We compared self-reported maternal asthma medication use for 28,481 birth defect cases and 10,894 nonmalformed controls. We calculated adjusted odds ratios (95% CIs) to estimate the risk of birth defects associated with early pregnancy asthma medication use (the month before through the third month of pregnancy), controlling for maternal age, race/ethnicity, body mass index, smoking, folic acid–containing supplement use, and parity. We calculated risks by medication groupings: bronchodilators, anti-inflammatories, and both. Results Overall, 1304 (5%) case and 449 (4%) control women reported early pregnancy asthma medication use. We observed an association between asthma medication use and longitudinal limb deficiency (1.81; 95% CI, 1.27-2.58). Early pregnancy bronchodilator-only use was associated with cleft palate (1.50; 95% CI, 1.11-2.02), cleft lip (1.58; 95% CI, 1.12-2.23), longitudinal limb deficiency (2.35; 95% CI, 1.55-3.54), and truncus arteriosus (2.48; 95% CI, 1.13-5.42). Although early pregnancy anti-inflammatory-only use was not associated with the birth defects studied, use of both medications was associated with biliary atresia (3.60; 95% CI, 1.55-8.35) and pulmonary atresia (2.50; 95% CI, 1.09-5.78). Conclusions Consistent with previous National Birth Defects Prevention Study analyses, asthma medication use was not associated with most birth defects examined, but we observed modest risks for bronchodilator use and several birth defects. Our findings support maintaining adequate asthma treatment during pregnancy, because early pregnancy asthma exacerbations have been associated with adverse birth outcomes, including birth defects.

Cardiac neural crest cells (cNCCs) are required for normal heart development. cNCCs are a multipotent and migratory cell lineage that differentiates into multiple cell types. cNCCs migrate into the developing heart to contribute to the septation of the cardiac outflow tract (OFT). Foxc1 and Foxc2 are closely related members of the FOX (Forkhead box) transcription factor family and are expressed in cNCC during heart development. However, the precise role of Foxc1 and Foxc2 in cNCCs has yet to be fully described. We found that compound NCC-specific Foxc1;Foxc2 mutant embryos exhibited persistent truncus arteriosus (PTA), ventricular septal defects (VSDs), and thinning of the ventricular myocardium. Loss of Foxc1/c2 expression in cNCCs resulted in abnormal patterns of cNCC migration into the OFT without the formation of the aorticopulmonary septum. Further, loss of Foxc1 expression in cNCCs resulted in normal OFT development but abnormal ventricular septal formation. In contrast, loss of Foxc2 expression in NCCs led to no obvious cardiac abnormalities. Together, we provide evidence that Foxc1 and Foxc2 in cNCCs are cooperatively required for proper cNCC migration, the formation of the OFT septation, and the development of the ventricles. Our data also suggests that Foxc1 expression may play a larger role in ventricular development compared to Foxc2.

22q11.2 deletion syndrome (22q11.2DS) is considered one of the most frequently observed chromosomal abnormalities in association with congenital heart disease (CHD), which can also include some combination of other features. Thus, the aim of this work was to verify the profile of dysmorphic features and heart defects found in patients referred to a reference center in Southern Brazil with clinical findings suggestive of 22q11.2DS. In the overall sample group, only patients with dysmorphic facial features (skull, eyes, ear, and nose) associated with CHD (obstructive pulmonary valve ring, truncus arteriosus, and bicuspid aortic valve associated with atrial septal defect and/or right aortic arch) had a 22q11.2 deletion. These findings proved to be reliable clinical criteria for referral to perform fluorescent in situ hybridization investigation for 22q11.2 deletion.

Truncus arteriosus is a congenital heart disease in which a great artery, that is balanced positioned above a large ventricular septal defect, gives origin to the ascending aorta, the pulmonary arteries and the coronary circulation. The atrioventricular septum, both ventricles and the left ventricular outflow tract are usually normal. In most cases the common trunk gives rise to the main pulmonary artery which then bifurcates into branch pulmonary arteries generally of normal size. Truncal valve is usually dysplastic with thickened and deformed leaflets and in order from highest to lowest frequency it may be trileaflet, quadricuspid or bicuspid. The absence of one pulmonary artery is rare (1).

Background Truncus arteriosus is associated with coronary anomalies. We identified coronary artery lesions in patients undergoing repair of truncus arteriosus, defined the impact of lesions on mortality, and studied the effect of surgical intervention of coronary lesions. Methods A retrospective review identified 107 patients with truncus repair (1995-2019). Coronary lesions were categorized as ostial stenosis, intramural, juxtacommissural origin, and single coronary. Survival analysis characterized survival after truncus repair and studied the association of coronary lesions and mortality. Results Among 107 patients with truncus repair 34 patients had at least 1 coronary lesion. Median follow-up time was 7 years, with 85% 5-year survival. Coronary lesions including ostial stenosis, intramurality, and juxtacommissural origin were associated with increased mortality, whereas single coronaries did not impact survival. Eleven patients had 1 coronary lesion and 6 patients with 2 coronary lesions had similar (80% and 83%, respectively) 5-year survival. Eight patients with 3 coronary lesions had 24% 5-year survival (P = .0003). Among patients with 1 or 2 lesions, surgical intervention on the coronary lesions tended to be associated with longer 5-year survival (100% vs 62%, respectively; P = .06). All patients with 3 lesions underwent coronary artery intervention, with 24% 5-year survival. Conclusions Impact of coronary lesions on mortality after truncus repair increases with the number of lesions. Coronary artery intervention may be associated with improved time-related survival among patients with 1 or 2 lesions. Patients with the most complex anomalies (3 lesions) have poor survival and warrant ongoing study of repair techniques.

OBJECTIVES This study aimed to evaluate the outcomes and feasibility of different techniques of reconstruction of the right ventricular outflow tract (RVOT) in surgical repair of truncus arteriosus. METHODS We retrospectively reviewed all consecutive patients with truncus arteriosus who underwent successful surgical repair in our centre between 1994 and 2017. We analysed late results according to the type of RVOT repair. RESULTS We collected data from 29 survivors after truncus arteriosus repair. Six (20%) of them were affected by DiGeorge syndrome. The RVOT reconstruction was achieved using a valved conduit in 58.6%, while a direct right ventricle–pulmonary artery (RV–PA) anastomosis, with or without the interposition of the left atrial appendage, was performed in the remaining. At a median follow-up time of 7.9 years (interquartile range 1.8–13.1), 6 patients (3 affected by DiGeorge syndrome) died. Between the 2 groups, there were no differences in terms of the late mortality and onset of adverse events. However, the use of a conduit seemed more prone to reintervention and onset of adverse events. CONCLUSIONS Different RVOT reconstruction techniques are safe and have similar late outcomes. However, use of a direct RV–PA anastomosis and left atrial appendage interposition may reduce the need for reoperation in the long term.

During the early heart development, heart outflow tract elongates by the addition of cardiomyocytes from the anterior heart field (AHF)/secondary heart field (SHF). Dye-marking experiments in early chick embryos clarified that each AHF/SHF migrates to distinct conotruncal regions. Local administration of retinoic acid to the AHF/SHF causes distinct conotruncal heart defects in a region and stage dependent manner. For example, impaired development of AHF at HH stage 12 (corresponding to Carnegie stages 10–11 in human embryos) causes dextroposed aorta including transposition of the great arteries (TGA), while SHF at HH stage 12 persistent truncus arteriosus (PTA). Our results indicated that the abnormal development of certain AHF/SHF at certain stages causes specific spectrum of conotruncal heart defects.

In this study, we sought to identify independent risk factors for mortality and reintervention after early surgical correction of truncus arteriosus using a novel statistical method.Patients undergoing neonatal/infant truncus arteriosus repair between January 1984 and December 2018 were reviewed retrospectively. An innovative statistical strategy was applied integrating competing risks analysis with modulated renewal for time-to-event modeling.A total of 204 patients were included in the study. Mortality occurred in 32 patients (15%). Smaller right ventricle to pulmonary artery conduit size and truncal valve insufficiency at birth were significantly associated with overall mortality (right ventricle to pulmonary artery conduit size: hazard ratio, 1.34; 95% confidence interval, 1.08-1.66, P = .008; truncal valve insufficiency: hazard ratio, 2.5; 95% confidence interval, 1.13-5.53, P = .024). truncal valve insufficiency at birth, truncal valve intervention at index repair, and number of cusps (4 vs 3) were associated with truncal valve reoperations (truncal valve insufficiency: hazard ratio, 2.38; 95%, confidence interval, 1.13-5.01, P = .02; cusp number: hazard ratio, 6.62; 95% confidence interval, 2.54-17.3, P .001). Right ventricle to pulmonary artery conduit size 11 mm or less was associated with a higher risk of early catheter-based reintervention (hazard ratio, 1.54; 95% confidence interval, 1.04-2.28, P = .03) and reoperation (hazard ratio, 1.96; 95% confidence interval, 1.33-2.89, P = .001) on the right ventricle to pulmonary artery conduit.Smaller right ventricle to pulmonary artery conduit size and truncal valve insufficiency at birth were associated with overall mortality after truncus arteriosus repair. Quadricuspid truncal valve, the presence of truncal valve insufficiency at the time of diagnosis, and truncal valve intervention at index repair were associated with an increased risk of reoperation. The size of the right ventricle to pulmonary artery conduit at index surgery is the single most important factor for early reoperation and catheter-based reintervention on the conduit.

Common arterial trunk (CAT), or truncus arteriosus, is a rare form of cyanotic congenital heart disease and is highly associated with DiGeorge syndrome (microdeletion 22q11.2). Prenatal diagnosis is highly feasible, allowing proper delivery planning and postnatal management. The clinical presentation is highly variable depending on the anatomical variation; however, most commonly presenting with mild cyanosis and significant tachypnea, although these patients can often go undetected in the immediate newborn period. Transthoracic echocardiography is adequate for diagnosis and detailed anatomical delineation in the majority. Additional imaging modalities such as cardiac catheterization, computed tomography angiography, or cardiac magnetic resonance imaging can be helpful in those with more complex pulmonary artery (PA) or aortic anatomy, or in the older repaired. The surgical management of CAT is complete repair in the neonatal period with resection of branch PAs from the CAT with placement of a right ventricular (RV)-to-PA conduit and patch closure of the ventricular septal defect. Overall surgical outcomes are excellent in most centers, with the expectation that the child will eventually outgrow the RV-to-PA conduit and require reoperation. Other potential reoperations or postsurgical interventions in addition to the RV-to-PA conduit may involve the truncal valve or branch PAs.

BACKGROUND Proper development of the great vessels of the heart and septation of the cardiac outflow tract requires cardiac neural crest cells. These cells give rise to the parasympathetic cardiac ganglia, the smooth muscle layer of the great vessels, some cardiomyocytes, and the conotruncal cushions and aorticopulmonary septum of the outflow tract. Ablation of cardiac neural crest cells results in defective patterning of each of these structures. Previous studies have shown that targeted deletion of the forkhead transcription factor C2 (Foxc2), results in cardiac phenotypes similar to that derived from cardiac neural crest cell ablation. RESULTS We report that Foxc2-/- embryos on the 129s6/SvEv inbred genetic background display persistent truncus arteriosus and hypoplastic ventricles before embryonic lethality. Foxc2 loss-of-function resulted in perturbed cardiac neural crest cell migration and their reduced contribution to the outflow tract as evidenced by lineage tracing analyses together with perturbed expression of the neural crest cell markers Sox10 and Crabp1. Foxc2 loss-of-function also resulted in alterations in PlexinD1, Twist1, PECAM1, and Hand1/2 expression in association with vascular and ventricular defects. CONCLUSIONS Our data indicate Foxc2 is required for proper migration of cardiac neural crest cells, septation of the outflow tract, and development of the ventricles. Developmental Dynamics 247:1286-1296, 2018. © 2018 Wiley Periodicals, Inc.

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