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Background Elevated pulmonary vascular resistance (PVR) is common following repair of truncus arteriosus. Inhaled nitric oxide (iNO) is an effective yet costly therapy that is frequently implemented postoperatively to manage elevated PVR. Objectives We aimed to describe practice patterns of iNO use in a multicenter cohort of patients who underwent repair of truncus arteriosus, a lesion in which recovery is often complicated by elevated PVR. We also sought to identify patient and center factors that were more commonly associated with the use of iNO in the postoperative period. Design Retrospective cohort study. Setting 15 tertiary care pediatric referral centers. Patients All infants who underwent definitive repair of truncus arteriosus without aortic arch obstruction between 2009 and 2016. Interventions Descriptive statistics were used to demonstrate practice patterns of iNO use. Bivariate comparisons of characteristics of patients who did and did not receive iNO were performed, followed by multivariable mixed logistic regression analysis using backward elimination to identify independent predictors of iNO use. Main results We reviewed 216 patients who met inclusion criteria, of which 102 (46%) received iNO in the postoperative period: 69 (68%) had iNO started in the operating room and 33 (32%) had iNO initiated in the ICU. Median duration of iNO use was 4 days (range: 1-21 days). In multivariable mixed logistic regression analysis, use of deep hypothermic circulatory arrest (odds ratio: 3.2; 95% confidence interval: 1.2, 8.4) and center (analyzed as a random effect, p = .02) were independently associated with iNO use. Conclusions In this contemporary multicenter study, nearly half of patients who underwent repair of truncus arteriosus received iNO postoperatively. Use of iNO was more dependent on individual center practice rather than patient characteristics. The study suggests a need for collaborative quality initiatives to determine optimal criteria for utilization of this important but expensive therapy.

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 as 1% of all congenital heart malformations. Aim To evaluate the initial neonatal management and long-term outcomes of newborns with truncus arteriosus. Method We conducted a retrospective review of all newborns with truncus arteriosus admitted to our neonatal unit and referred to a surgical centre between 2010 and 2018. Data were collected from Badger and Cardiology databases to evaluate the initial neonatal management and long-term outcomes of this cohort of patients. Results Fifteen newborns with truncus arteriosus were admitted to our neonatal unit. Their mean gestational age was 36 weeks with a mean birth weight of 2407 grams. Cardiac defects were detected prenatally in 12 patients (80%). 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. Thirteen patients (87%) underwent common arterial trunk repair. 10 (77%) 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). Of the 10 babies who survived, the median length of hospital stay post operatively was 20 days. Conclusion Truncus arterisus is a rare conotruncal defect. The majority of these were detected antenatally. They are likely to require respiratory support but the surgical outcomes are good. The following information can be used when counselling parents antenatally and managing their expectations.

A 1-month-old male child presented with cyanosis and feeding difficulties. Transthoracic echocardiography was suggestive of common arterial trunk with sinusal origin of pulmonary artery segment; the pulmonary artery confluence however could not be visualised. The patient was further referred for a

We present a case of a 3-week-old boy with persistent truncus arteriosus associated with interrupted right aortic arch having an anomalous origin of the left vertebral artery from the ascending aorta.

A diverse group of patients with congenital heart disease and other cardiovascular disorders may be referred for exercise testing in a pediatric exercise physiology laboratory. Although the results of cardiopulmonary exercise testing (CPET) are not diagnostic of any particular disorder, a number of patterns characteristic of the various congenital and other cardiovascular disorders can be identified.

The situs, or pattern of anatomic organization, of the subarterial infundibulum and of the great arteries and the degree of development of the subarterial infundibulum largely determine whether the great arteries are normally or abnormally related. There are 2 types of situs: solitus (normal) and inversus (a mirror image of solitus). Situs ambiguus means that the pattern of anatomic organization is uncertain or unknown. Infundibular development varies from absent, to atretic, to severely stenotic, to mildly or moderately stenotic; great arteries are solitus normally related or inversus normally related, respectively. When the situs of the subarterial infundibulum and the situs of the great arteries are discordant (different), then the great arteries are abnormally related. Equations indicating the situs of the infundibulum and the situs of the great arteries show whether infundibuloarterial (IA) situs concordance or discordance is present. Many types of IA anomalies typically have IA situs discordance, including transposition of the great arteries, double-outlet right ventricle, double-outlet left ventricle, and anatomically corrected malposition of the great arteries. However, tetralogy of Fallot and truncus arteriosus typically have IA situs concordance, with hypoplasia or atresia of the subpulmonary infundibulum. The relation between the great arteries in tetralogy of Fallot and in truncus arteriosus is almost normal. The IA equations demonstrate the infundibular situs, the great arterial situs, the IA situs concordance or discordance, and the degree of development of the infundibulum. The infundibular situs and the great arterial situs are the formulas or "recipes" for each of the abnormal types of conotruncal malformation.

Congenital heart disease is a major cause of cyanosis in the newborn, which should be considered and recognized promptly. Careful history and meticulous physical examination along with appropriate investigations are essential for the diagnosis of cyanotic congenital heart diseases. Although cardiac echocardiography is the diagnostic choice for congenital cardiac lesions, many centers may not have it readily available. In such cases, use of pulse oximetry, the hyperoxia test, chest radiography, and electrocardiograpy will usually differentiate heart disease from other causes of cyanosis. If a ductal-dependent lesion is suspected, the immediate initiation of prostaglandin E1 infusion may be life-saving. Understanding the pathophysiology of cyanotic congenital heart diseases is crucial in the initial management in such settings. A high index of suspicion must be maintained for the appropriate management and institution after birth-saving measures.

An intramural coronary artery in the setting of truncus arteriosus (common arterial trunk) is an uncommon association. Following an uneventful surgical repair, a neonate developed a low cardiac output state deteriorating into cardiac arrest shortly after arrival into the intensive care unit, requiring extracorporeal membrane oxygenation support. Echocardiography and angiography showed occlusion of the left coronary artery, prompting emergency surgical reexploration. A “slit-like” orifice with an intramural left coronary artery was successfully unroofed, allowing full recovery. Full definition of the proximal coronary anatomy beyond the orifices should be investigated preoperatively in truncus arteriosus, as a missed intramural segment could lead to significant morbidity or mortality.

This case report describes the pathological findings of multiple congenital cardiac defects in a 2-year-old female Shetland pony with clinical signs of chronic respiratory distress. Persistent truncus arteriosus (PTA) type IV, interventricular septal defect, overriding aorta, pulmonary trunk agenesis, pulmonary arteries arising from the descending aorta, and compensatory right ventricular hypertrophy were observed.

Introduction The presence of truncus arteriosus represents just 1.2–3% of all complex congenital heart pathologies and if not corrected, less than 20% survive beyond one year of life. When the disease progresses patients usually develop severe pulmonary hypertension and may even develop into Eisenmenger's syndrome. The paper discusses a case of a schoolboy with a diagnosis of uncorrected truncus arteriosus type I, and severe pulmonary arterial hypertension undergoing non-cardiac surgery. Case discussion This is a 9-year old schoolboy with complex heart disease and similar pulmonary and systemic blood pressures, undergoing elective orthopedic surgery under regional anesthesia, with lumbar plexus block and posterior sciatic block. This anesthetic approach provided adequate anesthesia with hemodynamic stability and no impact on vascular resistance. Conclusion The choice of the anesthetic technique should be a planned decision based on the cardiovascular pathophysiology of the truncus arteriosus, the level of pulmonary hypertension, and the surgical procedure to be performed. Patients with severe pulmonary hypertension are at increased risk of developing suprasystemic pulmonary pressures with considerable hemodynamic involvement. Consequently, the anesthetic technique chosen shall provide adequate anesthesia and ensure the least hemodynamic impact. Whenever possible, it is important to consider the peripheral nerve block as the first line approach for orthopedic surgery.

A neonate, born after 29 weeks and 2 days gestation (weight 1015 g), was diagnosed with truncus arteriosus and interrupted aortic arch. On postnatal day 30 (1378 g), we performed bilateral pulmonary artery banding. On postnatal day 107 (3024 g), we carried out aortic arch repair and a Rastelli-type procedure. During follow-up, branch pulmonary artery and ascending aortic stenosis was observed. At 15 months, surgical angioplasty of the ascending aorta and bilateral branch pulmonary arteries was undertaken using the Lecompte maneuver.

Objectives This study aimed to analyze long-term survival and functional outcomes after truncus arteriosus repair in a single institution with more than 40 years of follow-up. Methods Medical records were analyzed retrospectively in 52 patients who underwent the Rastelli procedure for truncus arteriosus repair between 1974 and 2002. Thirty-five patients survived the initial repair. The median age at the initial operation was 2.8 months (range, 0.1–123 months) and the body weight was 3.9 kg (range, 1.6 to 15.0 kg). Results The median age at follow-up was 23.6 years (range, 12.4 to 44.5 years). The median follow-up duration was 23.4 years (range, 12.3 to 40.7 years). The actuarial survival rate was 97% at 10 years and 93% at both 20 years and 40 years after the initial operation. At follow-up, most patients were in New York Heart Association (NYHA) functional classes I (73%) and II (24%). Thirty-six percent of patients had full-time jobs, 40% were students, and 21% were unemployed. Most patients (97%) had undergone conduit reoperations. Freedom from reoperation for right ventricular (RV) outflow and pulmonary artery (PA) stenosis was 59% at 5 years, 28% at 10 years, and 3% at 20 years after the initial operation. Freedom from catheter interventions for RV outflow and PA stenosis was 59% at 5 years, 47% at 10 years, and 38% at 20 years after the initial operation. Freedom from truncal valve replacement was 88% at 5 years, 85% at 10 years, and 70% at 20 years after the initial operation. Conclusions In this single-center retrospective study, with long-term follow-up after repair of truncus arteriosus, long-term survival and functional outcomes were acceptable, despite the requirement for reoperation and multiple catheter interventions for RV outflow and PA stenosis in almost all patients, and the frequent requirement for late truncal valve operations.

Objectives Bilateral pulmonary artery banding (bil-PAB) has been developed as a part of a hybrid procedure for hypoplastic left heart syndrome (HLHS). We use this procedure for palliation of complex congenital heart disease, particularly in patients with arch anomaly. We reviewed our experience with bil-PAB. Methods Sixty-six consecutive cases between 2003 and 2014 were reviewed retrospectively. Results Fifty-one patients (77%) had single ventricle physiology (HLHS: 37, HLHS variant: 13, others: 1). Twelve patients had biventricular physiology [5 interrupted aortic arch with ventricular septal defect (VSD); 4 coarctation of the aorta with VSD; 2 truncus arteriosus; 1 other]. In 3 patients, it was difficult to determine if the physiology was single ventricle or biventricle due to borderline left ventricle size. Age and body weight at the time of operation were 4.3 ± 3.4 days and 2.7 ± 0.5 kg, respectively. Overall hospital mortality was 11% (7/66). Of the 42 patients from 2010, only 1 with multiple anomalies died between bil-PAB and the second-stage operation. Thirteen patients (20%) required reoperation of bil-PAB. The mean waiting time for the next operation was 44.3 ± 42.8 days. The body weight at the second-stage operation was 3.2 ± 0.8 kg. Seven (11%) patients developed patent ductus arteriosus obstruction during the waiting period. Twenty-four patients were 2.5 kg or less; 20 patients in this group progressed to the second-stage operation and of these 19 gained body weight. Forty-two patients were above 2.5 kg, but of these only 23 patients gained body weight. Ten patients underwent bil-PAB because of shock and 8 of these recovered from shock. In 2 borderline cases, the patients underwent the Norwood procedure and 1 patient had arch repair and VSD closure. Conclusions Bil-PAB could be applied to a wide variety of complex diseases. Our mortality rates with bil-PAB improved significantly post-2010. Good indications for bil-PAB were shock and situations where it was unclear whether the physiology was single ventricle or biventricular. Body weight gain was difficult to predict, but patients weighing less than 2.5 kg could be expected to gain body weight after the procedure.

BackgroundThe aetiology of conotruncal heart defects is poorly understood and the birth prevalence varies geographically. The known risk factors for developing conotruncal heart defects are as follows: CHD in siblings, genetic chromosomal abnormalities, paternal age >30 years, high parity, low birth weight, prematurity, and maternal diabetes.ObjectiveThe aim of this study was to characterise conotruncal heart defects, birth prevalence, mortality, and morbidity in the population of southern Israel, of whom 75% are Jewish and the rest are mostly Bedouin Arabs.MethodsThe data were obtained from Soroka University Medical Center database of births and newborns. Conotruncal heart defects cases were identified by ICD9 codes.ResultsDuring 1991–2011, there were 247,290 singleton live births and 393 conotruncal heart defects in Soroka University Medical Center. The birth prevalence per 10,000 live births of tetralogy of Fallot, transposition of the great arteries, and truncus arteriosus was 9.5, 5, and 1.8, respectively. In the multivariate analysis, Bedouin descent (adjusted odds ratio 2.40, p35 years (1.66, p=0.004), and siblings with congenital heart defects (1.98, p=0.005) were associated with tetralogy of Fallot, and Bedouin descent (1.61, p=0.05), siblings with congenital heart defects (2.19, p=0.004), and diabetes mellitus (7.15, pConclusionWe observed higher birth prevalence of conotruncal heart defects compared with the birth prevalence reported worldwide, specifically among the Bedouins, a population characterised with high consanguinity rate. Therefore, genetic counselling and early fetal echocardiograms should be encouraged, especially in high consanguinity rate populations. Naturally, further educational efforts are needed in order to decrease consanguinity and its related consequences.

Background The prevalence of congenital heart disease is higher in camelids than in other domestic species and complex defects, often involving the great vessels, are more frequently encountered in llamas and alpacas than in other species. Some of these complex defects can be difficult to accurately characterize via echocardiography, the most commonly used diagnostic imaging technique to evaluate the heart in veterinary patients. Contrast-enhanced, electrocardiogram (ECG)-gated computed tomography (CT) has proven utility for the evaluation of human patients with certain congenital heart defects, including those with conotruncal septation defects and other abnormalities involving the formation of the great vessels. Methods Three alpaca crias, 4 days, 5 weeks and 14 months of age were clinically evaluated and subjected to a complete color-flow Doppler echocardiogram and a contrast-enhanced ECG-gated CT. Results These alpacas exhibited a variety of clinical findings including lethargy, failure to thrive, exercise intolerance, heart murmur, and/or respiratory difficulty. All three crias were subsequently diagnosed with complex cardiac defects including pulmonary atresia with a ventricular septal defect (VSD), a truncus arteriosus with a large VSD, and a double outlet right ventricle with a large VSD and aortic hypoplasia. In each case, the diagnosis was confirmed by postmortem examination. Conclusion Color flow echocardiographic evaluation identified all of the intra-cardiac lesions and associated flow anomalies but contrast-enhanced ECG-gated CT permitted more accurate assessment of the morphology of the extracardiac structures and permitted a more precise determination of the exact nature and anatomy of the great vessels.

Background: The incidence of congenital heart disease is 8-10 /1000 live birth in different parts of the world. Early detection of major critical congenital heart defects might improve the outcome of new-born babies. Echocardiography is mainly used as diagnostic tool rather than screening tool due to cost effectiveness. Thus pulse oximetry, non-invasive easy to perform stays as main screening tool for diagnosis of critical congenital heart disease in newborn. Methods: Prospective study conducted in Neonatal unit in Chennai Medical College Hospital & research centre over a period of one year. A total of 430 asymptomatic newborn delivered were screened with pulse oximetry at 1 hour and 24 hours after birth. All positive newborns were screened with echocardiography. Results: Out of 430 newborns screened, 5 newborns had saturation

We evaluated the long-term outcomes following repair of truncus arteriosus (TA) from a single institution. We conducted a retrospective review of children (n = 171) who underwent TA repair between 1979 and 2014. Early mortality rate was 11.7% (20/171). There were 19 late deaths. Most deaths (74%, 29/39) occurred within the first year following surgery. The 1-year mortality rate in 1979-2004 was 18% (25/136) and decreased to 11% (4/35) in 2005-2014. The overall survival rate was 73.6% at 30 years. Multivariate analysis identified postoperative extracorporeal membrane oxygenation (P = 0.003), operative weight

We report the first case of a newborn with a rare combination of tricuspid valve atresia, type II truncus arteriosus, unobstructed supracardiac total anomalous pulmonary venous return and a single intramural coronary artery. Early unroofing of the coronary artery in these patients may improve prognosis.

Truncus arteriosus with interrupted aortic arch (Van Pragh A4) is a rare cyanotic heart disease. The management of this clinical entity is challenging due to obstructed systemic circulation, which required early intervention, especially in clinical setting with limited resources. Complete repair in early neonatal period associated with high morbidity and mortality. We present two patients with truncus arteriosus (type A4) palliated with hybrid procedure previously reported for management of patients with hypoplastic left heart syndrome.

Early detection is vital to improving morbidity and mortality in newborns with congenital heart disease. A complete understanding of cardiac development and embryology provides the basic principles to help clinicians manage patients at the time of presentation. Newborn screening has been instrumental in recognizing newborns with cyanotic congenital heart disease. Clinical algorithms provide very practical tools that help differentiate cyanotic congenital heart disease from other causes of cyanosis and further define each disease process for timely treatment to ensure better outcomes.

Dominant mutations of Gata4, an essential cardiogenic transcription factor (TF), cause outflow tract (OFT) defects in both human and mouse. We investigated the molecular mechanism underlying this requirement. Gata4 happloinsufficiency in mice caused OFT defects including double outlet right ventricle (DORV) and conal ventricular septum defects (VSDs). We found that Gata4 is required within Hedgehog (Hh)-receiving second heart field (SHF) progenitors for normal OFT alignment. Increased Pten-mediated cell-cycle transition, rescued atrial septal defects but not OFT defects in Gata4 heterozygotes. SHF Hh-receiving cells failed to migrate properly into the proximal OFT cushion in Gata4 heterozygote embryos. We find that Hh signaling and Gata4 genetically interact for OFT development. Gata4 and Smo double heterozygotes displayed more severe OFT abnormalities including persistent truncus arteriosus (PTA) whereas restoration of Hedgehog signaling rescued OFT defects in Gata4-mutant mice. In addition, enhanced expression of the Gata6 was observed in the SHF of the Gata4 heterozygotes. These results suggested a SHF regulatory network comprising of Gata4, Gata6 and Hh-signaling for OFT development. This study indicates thatGata4potentiation of Hh signaling is a general feature ofGata4-mediated cardiac morphogenesis and provides a model for the molecular basis of CHD caused by dominant transcription factor mutations.Author SummaryGata4 is an important protein that controls the development of the heart. Human who possess a single copy of Gata4 mutation display congenital heart defects (CHD), including the double outlet right ventricle (DORV). DORV is an alignment problem in which both the Aorta and Pulmonary Artery originate from the right ventricle, instead of originating from the left and the right ventricles, respectively. To study how Gata4 mutation causes DORV, we used a Gata4 mutant mouse model, which displays DORV. We showed that Gata4 is required in the cardiac precursor cells for the normal alignment of the great arteries. Although Gata4 mutation inhibits the rapid increase in number of the cardiac precursor cells, rescuing this defects does not recover the normal alignment of the great arteries. In addition, there is a movement problem of the cardiac precursor cells when migrating toward the great arteries during development. We further showed that a specific molecular signaling, Hh-signaling, is responsible to the Gata4 action in the cardiac precursor cells. Importantly, over-activating the Hh-signaling rescues the DORV in the Gata4 mutant embryos. This study provides an explanation for the ontogeny of CHD.

IMPORTANCE The occurrence of major congenital heart disease (CHD) is affected by several variables. Determining the development of the true incidence is critical to the establishment of proper treatment of these patients. OBJECTIVE To evaluate time trends in incidence, detection rate, and termination of pregnancy (TOP) rate of major CHD in fetuses in Denmark and assess the influence of the introduction of general prenatal screening in 2004. DESIGN, SETTING, AND PARTICIPANTS Nationwide, population-based, retrospective observational study in Denmark from 1996 to 2013 that included a consecutive sample of 14 688 live-born children and terminated fetuses diagnosed as having CHD. Patient records on TOP and children with major CHD were reviewed to validate the diagnoses. Major CHD included univentricular heart, transposition of the great arteries, congenitally corrected transposition of the great arteries, truncus arteriosus, interrupted aortic arch, atrioventricular septal defects, double outlet right ventricle, coarctatio of the aorta, Ebstein anomaly, pulmonary atresia with ventricular septal defect, pulmonary atresia with intact ventricular septum, and tetralogy of Fallot. Data were analyzed between January 2017 and March 2018. MAIN OUTCOMES AND MEASURES Temporal changes in incidence, detection rate, and TOP of major CHD. RESULTS Of 14 688 children and fetuses diagnosed with CHD, 2695 (18.4%; 95%CI, 17.8-19.1) had major CHD. A total of 7131 boys (1304 with major CHD) and 6926 girls (920 with major CHD) were included, with a median age of 11 years (interquartile range, 6-15 years). During the study period, the live-birth incidence of CHD was constant at 1.22%(95%CI, 1.18-1.26), whereas it decreased for major CHD. When including TOP, the incidence of major CHD did not change over time. The detection rate of major CHD increased from 4.5%(95%CI, 1.2-7.8) to 71.0%(95%CI, 63.3-78.7) (P < .001). At the end of the study, all cases of double outlet right ventricle, Ebstein anomaly, congenitally corrected transposition of the great arteries, and pulmonary atresia with ventricular septal defect were detected prenatally, whereas coarctation of the aorta had the lowest detection rate (21.7%; 95%CI, 3.5-40.0). The TOP rate increased from 0.6%(95%CI, -0.6 to 1.9) to 39.1%(95%CI, 30.9-47.4) (P < .001) among all major CHD. For prenatally diagnosed major CHD, 57.8%of cases were terminated and the proportion did not change significantly throughout the study. Diagnoses leading to TOP included all major CHD diagnoses. CONCLUSIONS AND RELEVANCE Detection rates of major CHD improved during the study. This has led to increased TOP rates, with a subsequent 39%decrease in the live-birth incidence of major CHD.

The optimal treatment for transposition of the great arteries with stenosis along the pulmonary tract has always been a challenge. En bloc rotation of the truncus arteriosus has been proposed as an alternative method in this group of patients. We report a truncus turnover in a 3-month-old, 3.4 kg infant.

Aortopulmonary window (APW) is rare a congenital heart disease accounting for 0.1%-0.2% of all congenital heart defects. The 35% of the APW has been associated with wide variety of other structural heart diseases such as ventricular septal defect, persistent ductus arteriosus, arch anomalies and coronary artery anomalies. To the best of our knowledge, only six cases of APW with pulmonary atresia with ventricular septal defect has been described in the literature. It resembles the type 1 truncus arteriosus, and differentiation from this condition is important prior to surgical correction. We present a case of 14-year-old girl child; she was diagnosed with APW with pulmonary atresia with ventricular septal defect and D transposition of great arteries with the help of echocardiography, cardiac catheterisation and cardiac CT.

Interrupted right aortic arch is a rare congenital cardiovascular anomaly typically associated with other forms of congenital heart disease. We report two cases of interrupted right aortic arch associated with isolated left pulmonary artery and bilateral ductus arteriosus in the first case and with truncus arteriosus in the second case. Computed tomography was complementary to echocardiography in delineating the anatomic details in both cases, informing surgical repair with reconstruction of a left aortic arch in the first case and right arch in the second case.

Background: Truncus arteriosus communis (TAC) is a congenital heart defect in which the physiologic arterial common trunk was not divided into aorta and pulmonary artery trunk. Objectives: In this paper, we report on three observed cases from which we looked for (in conjunction with literature review) the different causes of TAC many of which have genetic origins. Methods: We collected three clinical files of fetuses having a TAC. Two of them were examinated after a medical termination of pregnancy motivated by severe cardiopathy. The malformation had been diagnosed based on different techniques: echocardiography, skeletal radiography, arteriography, fetal autopsy, karyotype and fluorescence in situ hybridization (FISH). Results: Imaging and fetopathological examination revealed the presence of TAC type 3 and 4 in the Van Praaghs classification. FISH analysis showed a 22q11.2 deletion in one fetus in favour of Digeorge syndrome. The karyotype analysis performed in two cases was normal. Conclusion: Truncus arteriosus is a rare pathology caused by numerous etiologies from which many of them have genetic origin. This malformation can be diagnosed early during prenatal period. Postmortem fetopathological examination allows a better diagnosis approach and eventually a genetic counseling in recurrent cases such as case of consanguinity. Keywords: Truncus arteriosus , conotruncal heart malformation, congenital heart defect, genetic etiologies.

BACKGROUND Fetal echocardiography can accurately diagnose critical congenital heart disease prenatally, but relies on referrals from abnormalities identified on routine obstetrical ultrasounds. Critical congenital heart disease that is frequently missed due to inadequate outflow tract imaging includes anomalies such as truncus arteriosus, double outlet right ventricle, transposition of the great arteries, tetralogy of Fallot, pulmonary stenosis, and aortic stenosis. OBJECTIVE This study evaluated the prenatal detection rate of critical outflow tract anomalies in a single urban pediatric hospital before and after "AIUM Practice Guideline for the Performance of Obstetric Ultrasound Examinations," which incorporated outflow tract imaging. DESIGN Infants with outflow tract anomalies who required cardiac catheterization and/or surgical procedure(s) in the first 3 months of life were retrospectively identified. This study evaluated two time periods; pre-guidelines from June 2010 to May 2013 and post-guidelines from January 2015 to June 2016. June 2013-December 2014 was excluded as a theoretical period necessary for obstetrical practices to implement the revised guidelines. RESULTS Overall, prenatal diagnosis occurred in 55% of infants with critical outflow tract anomalies; of the three most common defects, prenatal diagnosis occurred in 53% of D-transposition of the great arteries, 63% of tetralogy of Fallot, and 80% of double outlet right ventricle patients. Pre-guidelines, prenatal diagnosis occurred in 52% (52 of 102) infants with critical outflow tract anomalies requiring early cardiac intervention. Post-guidelines, prenatal diagnosis occurred in 61% (33 of 54) infants, not significantly different than the prenatal detection rate pre-guidelines (P = .31). CONCLUSIONS Despite revised obstetrical guidelines highlighting the importance of outflow tract imaging, referrals and prenatal diagnosis of these types of critical congenital heart disease remain low. Education of obstetrical sonographers and practitioners who perform fetal anatomic screening is vital to increase referrals and prenatal detection of critical outflow tract anomalies.

Objective We sought to describe characteristics and operative outcomes of children who underwent repair of truncus arteriosus and identify risk factors for the occurrence of major adverse cardiac events (MACE) in the immediate postoperative period in a contemporary multicenter cohort. Methods We conducted a retrospective review of children who underwent repair of truncus arteriosus between 2009 and 2016 at 15 centers within the United States. Patients with associated interrupted or obstructed aortic arch were excluded. MACE was defined as the need for postoperative extracorporeal membrane oxygenation, cardiopulmonary resuscitation, or operative mortality. Risk factors for MACE were identified using multivariable logistic regression analysis and reported as odds ratios (ORs) with 95% confidence intervals (CIs). Results We reviewed 216 patients. MACE occurred in 44 patients (20%) and did not vary significantly over time. Twenty-two patients (10%) received postoperative extracorporeal membrane oxygenation, 26 (12%) received cardiopulmonary resuscitation, and 15 (7%) suffered operative mortality. With multivariable logistic regression analysis (which included adjustment for center effect), factors independently associated with MACE were failure to diagnose truncus arteriosus before discharge from the nursery (OR, 3.1; 95% CI, 1.3-7.4), cardiopulmonary bypass duration >150 minutes (OR, 3.5; 95% CI, 1.5-8.5), and right ventricle-to-pulmonary artery conduit diameter >50 mm/m2 (OR, 4.7; 95% CI, 2.0-11.1). Conclusions In a contemporary multicenter analysis, 20% of children who underwent repair of truncus arteriosus experienced MACE. Early diagnosis, shorter duration of cardiopulmonary bypass, and use of smaller diameter right ventricle-to-pulmonary artery conduits represent potentially modifiable factors that could decrease morbidity and mortality in this fragile patient population.

The World Pulmonary Hypertension Symposium in 2013 (Nice, France) introduced a new entity in the classification for pediatric and adult patients called “segmental pulmonary hypertension (PH).”1 Segmental PH was described in the international 2015 guidelines as PH “observed in discrete lung areas perfused by aortopulmonary collaterals in congenital heart diseases such as pulmonary or tricuspid atresia,”2 while the proceedings of the Nice World Symposium1 defined this as “PH in one or more lobes of one or both lungs.” Others have defined segmental PH more broadly as PH that does not follow a homogeneous distribution, with some parts of the pulmonary vasculature being exposed to higher pressures than others.3 This entity was included under the umbrella of World Heart Organization group 5 (PH caused by unclear or multifactorial mechanisms), because little is known about its pathophysiology and response to pulmonary arterial hypertension (PAH) therapies.1, 2 Segmental PH is most commonly encountered in patients with congenital heart disease (CHD) and carries notable similarities to PAH (Group 1.4.4, PAH associated with CHD) and group 4 of the PH classification (Group 4.2.4 PH in patients with congenital pulmonary artery [PA] stenoses), yet there is no systematic description of the broad spectrum of conditions encompassed by this entity or its distinct pathophysiological features and how these may affect management. We present herewith a consensus statement on segmental PH, including a working definition, range of conditions that may be classified under this entity, description of pathophysiology in terms of pulmonary vasculature, cardiovascular anatomy, and management principles.

Purpose Truncus arteriosus is a rare congenital heart defect consisting of a single artery arising from both ventricles and a ventricular septal defect. Survival beyond the first year of life is very rare if the truncal defect is not treated. Currently, no research reports on this patient group in South Wales. The aim of this work was to evaluate the presentation, management and outcomes of truncus arteriosus in South Wales and compare this to outcomes published by other UK centres. Methods Data were collected retrospectively for the period January 1967 to December 2015. All patients on the database with a diagnosis of truncus arteriosus were used (n=47). Results Overall survival was 70% in patients followed-up for 13.9 years (0.8–30.7). Treated survival was 81% in patients followed-up for 12.3 years (0.8–30.7). Overall freedom from reintervention was 9% with conduit replacement being the most common reoperation (28/34 patients) after an average of 4.4 years (0.3–16.3). Xenograft use and antenatal diagnosis were associated with a significantly shorter interval to conduit replacement. The prevalence of DiGeorge syndrome in this study was 21% which was associated with developmental delay or learning difficulties but not with poorer cardiac outcomes. Conclusion Truncus arteriosus repair can be achieved with good outcomes in terms of long term survival but freedom from reintervention is low. Prolonging conduit lifespan remains the major challenge in managing these patients.

Right-to-left shunting of venous blood away from the lungs occurs in a variety of congenital heart disease (CHD) lesions resulting in cyanosis. Cyanotic CHD can be divided into two basic categories: right-sided obstructive lesions which result in decreased pulmonary blood flow and intracardiac mixing lesions. The most common cyanotic lesions are Tetralogy of Fallot (TOF), transposition of the great arteries (TGA), truncus arteriosus (TA), total anomalous pulmonary venous return (TAPVR), and tricuspid valve abnormalities. Anesthetic implications vary based on the severity of the abnormalities present and the associated comorbidities, such as cardiac failure, arrhythmias, and pulmonary hypertension. The anesthesiologist must be aware of the hemodynamic consequences of the chosen anesthetic technique, as it relates to each specific lesion. This review focuses on the key principles of anatomy and physiology of right-to-left shunt lesions, as applicable to the safe anesthetic care for these complex patients.

Truncus arteriosus with the absence of one branching pulmonary artery and presence of major aortopulmonary collateral arteries is rare. A small patient, with a birth weight of 2,219 g, was successfully repaired by a staged approach, after banding of the left pulmonary artery and unifocalization of major aortopulmonary collateral arteries.

Purpose: Truncus arteriosus is a complex and heterogeneous form of congenital heart defect. Many of the risk factors from several decades ago, including late repair and interrupted aortic arch, have been mitigated through better understanding of the entity and improved surgical techniques. However, truncal valve dysfunction remains an important cause of morbidity and mortality. The purpose of this study was to evaluate the anatomic factors associated with truncal valve dysfunction and the need for truncal valve surgery. Methods: This was a retrospective review of 72 infants who underwent repair of truncus arteriosus at our institution. The median age at surgery was nine days, and the median weight was 3.1 kg. Preoperative assessment of truncal valve insufficiency by echocardiography revealed no or trace insufficiency in 30, mild in 25, moderate in 10, and severe in 7. The need for truncal valve surgery was dictated by the severity of truncal valve insufficiency. Results: Sixteen (22%) of the 72 patients undergoing truncus arteriosus repair had concomitant truncal valve surgery. Anatomic factors associated with the need for truncal valve surgery included an abnormal number of truncal valve cusps ( P < .005), presence of valve dysplasia ( P < .005), and the presence of an anomalous coronary artery pattern ( P < .005). Fifteen (94%) of the sixteen patients who underwent concomitant surgery had two or all three of these anatomic factors (sensitivity = 94%, specificity = 85%). Conclusion: This study demonstrates that the presence of specific anatomic factors was closely associated with the presence of truncal valve insufficiency and the need for concomitant truncal valve surgery. Preoperative evaluation of these anatomic factors may provide a useful tool in determining who should undergo concomitant truncal valve surgery.

Background— Intramural ventricular septal defects (VSDs) are interventricular communications through right ventricular free wall trabeculations that can occur after repair of conotruncal anomalies. We assessed the prevalence of residual intramural VSDs and their effect on postoperative course. Methods and Results— Children who underwent biventricular repair of a conotruncal anomaly from January 1, 2006, to June 30, 2013, and had a postoperative transthoracic echocardiogram were included. Images were reviewed for residual intramural or nonintramural VSDs. The primary outcome was a composite of mortality, extracorporeal membrane oxygenation use, and need for subsequent catheter or surgical VSD closure. The secondary outcome was postoperative hospital length of stay. A residual VSD was present in 256 of the 442 subjects (58%), of which 231 (90%) were P P =0.0001). These associations remained significant after adjustment for known risk factors for poor outcomes, including residual VSD size and operative complexity. Conclusions— Among residual VSDs after repair of conotruncal anomalies, intramural VSDs are uniquely associated with postoperative morbidity, mortality, and longer postoperative hospital length of stay. It is important to recognize intramural VSDs in the postoperative period.

Surgical experiences of the reoperative double ventricular outflow tract reconstruction long after the successful repair of conotruncal anomalies were reviewed. Ten adult patients with conotruncal anomalies (6 females, 22.9 ± 5.5 years old) underwent the reoperative double ventricular outflow tract reconstruction. Primary diagnosis was pulmonary atresia with ventricular septal defect in 6 patients, truncus arteriosus in 3, and double-outlet right ventricle in 1. The indication for the left ventricular outflow tract reconstruction was the left ventricular dilatation and dysfunction derived from moderate or greater systemic semilunar valve insufficiency. The indication for the right ventricular outflow tract reconstruction was severe pulmonary insufficiency in all patients, and concomitant right ventricular outflow tract obstruction in 7. The systemic semilunar valve replacement was performed in all patients. The right ventricular outflow tract patching was performed in 4 patients, and the revision of extra-cardiac conduit in 6. Within a mean follow-up of 9.0 ± 7.0 years, there was no mortality. The left ventricular end-diastolic volume index improved from 147 ± 37 to 108 ± 19 ml/m2 (p = 0.005), and the peak pressure gradient across right ventricular outflow tract improved from 43 ± 17 mmHg to 9 ± 2 at 1 year after (p = 0.02). The plasma brain natriuretic peptide level improved from 83 ± 57 to 34 ± 32 pg/ml (p = 0.03). Reoperative double ventricular outflow tract reconstruction long after the repair of conotruncal anomalies was safely performed, and provided the ventricular reverse remodeling and improvement of serum BNP level.

Objectives We are the first to describe the use of three-dimensional rotational angiography (3DRA) in creating multiplanar reconstruction (MPR) and volume rendering, in the catheterization suite, of airways at risk for compression by adjacent cardiac structures. Background 3DRA has emerged as a promising tool for improved visualization of cardiac and vascular structures in congenital heart disease. Methods This is a retrospective review of all available cases at our institution in which MPR from 3DRA was used to assess airways in relation to surrounding cardiovascular structures. Results Eight cases were reviewed from January 1, 2011 to November 30, 2013. Seven children had complex biventricular anatomy, including repaired truncus arteriosus, repaired absent pulmonary valve, repaired double outlet right ventricle, and vascular rings. One child had double inlet left ventricle and had undergone a hybrid procedure (stenting of the patent ductus arteriosus and banding of bilateral pulmonary arteries) before the Glenn procedure. Six of these cases involved distortion or stenosis of the pulmonary conduit or branch pulmonary arteries. In all cases, the trachea and the main bronchi were clearly visualized using MPR. Management was affected by the visualization of the airways during the catheterization procedure in seven of eight cases. Four cases had intraprocedural bronchoscopy that confirmed airway findings seen by MPR. In one case, computed tomography confirmed left bronchial compression seen by MPR. Conclusions 3DRA can visualize airway anatomy and its relationship to the vasculature accurately. This has significant implications for preinterventional planning, intraprocedural management, as well as postprocedural recovery. © 2015 Wiley Periodicals, Inc.

ResumenIntroducciónEl embarazo en mujeres adolescentes, por las complicaciones que se presentan en la madre y el recién nacido (RN), representa un problema de salud pública. Los estudios existentes no dejan claro si el comportamiento del prematuro hijo de madre adolescente es el mismo que el de la madre no adolescente.ObjetivoSe pretendió evaluar la evolución perinatal de embarazos pretérmino en madres adolescentes y analizar diferencias con los embarazos de madre no adolescente.Material y métodosEstudio retrospectivo, efectuado mediante la revisión de los expedientes clínicos de RN prematuros, nacidos entre enero de 2007 y enero de 2012. Los criterios de inclusión del estudio fueron: prematuros