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There are several choices for the correction of complex transposition of the great arteries and double outlet right ventricle not amenable to the Rastelli-type surgery, but outcome data are limited to small series. This study aims to report results after the aortic root translocation and en bloc rotation of the outflow tract procedures.This is a retrospective, multicentric, observational study. Clinical, anatomy, procedural, and detailed follow-up data (median, 4.43 years) were collected.A total of 70 patients (62.9% male; median age, 1 year; range 4 days to 12.4 years) were included: n = 43 in the aortic root translocation group and n = 27 in the en bloc rotation group. Those in the aortic root translocation group were older (P = .01) and more likely to have had previous procedures (P .0001), but cardiac anatomy was similar in both groups. Aortic root translocation and en bloc rotation early mortality (30 days) was similar (4.7% vs 3.7%, P = .8). Late survival and freedom from any cardiac reintervention were 92.7% and 16.9% at 15 years overall, respectively. Freedom from right ventricular outflow tract/conduit reintervention was better in the en bloc rotation group than in the aortic root translocation group (100% vs 24.5%, P = .0003), but more patients in the en bloc rotation group had moderate (or worse) aortic valve regurgitation during follow-up (16% vs 2.6%, P = .07).Both aortic root translocation and en bloc rotation are valuable surgical options for the treatment of complex transposition of the great arteries and double outlet right ventricle. In the en bloc rotation group, there was better freedom from right ventricular outflow tract reinterventions, but a higher probability of aortic valve regurgitation. Identifying the main driving forces for these observed differences requires further study of these procedures.

Double outlet right ventricle (DORV) is a highly complex congenital heart disease (CHD) entity, gaining increasing interest due to the rapid progress of cardiac surgery. The number of patients operated for this congenital defect has been growing since 1980s and over following decades with active transitioning of this cohort into the adult medicine. However, the diversity of initial anomaly and performed interventions makes challenging the management of these patients. This is particularly important in the regions where specialized adult CHD cardiology still remains underdeveloped. In this review, we observe the basic principles of DORV nomenclature, main types of the operations and possible late complications. The article focuses on adult patients and offers illustrations from clinical practice.

Aim Transposition of great arteries with ventricular septal defect and pulmonary stenosis is a complex congenital cardiac malformation with varied treatment options. Double root translocation is one of the described techniques with several advantages over other techniques. Our goal of this study is to report our early experiences on the performance of translocated aortic and pulmonary root. Methods From 2016 to 2019, a total of 12 patients (seven boys and five girls) aged from one year to three years underwent double root translocation. All our patients were diagnosed with dextro-transposition of the great arteries (d-TGA)/double-outlet right ventricle (DORV), ventricular septal defect (VSD), and pulmonary stenosis (PS). One patient (8.33%) presented with (IL 2R CX), remaining 11 patients (91.66%) had (IL CX 2R) as their coronary pattern. Mean follow-up period was two years (1–3 years). Results At six months follow up, one patient died due to severe MR, one patient had severe TR and was taken back for surgery after two weeks post-surgery. Three patients had trivial aortic regurgitation (AR) and nine had no AR, two patients had trivial mitral regurgitation (MR) and 10 had no MR 11 patients had post-operative sinus rhythm and were in NYHA class 1. One patient with a complete heart block was supported with extracorporeal membrane oxygenator followed by tracheostomy. Redo TV repair was done in one patient. Peritoneal dialysis was accomplished in two patients. Conclusions Double root translocation is a good alternative surgical treatment for TGA/DORV, VSD, and PS, where the pulmonary valve is small, but the leaflets are usable. Although the operation is technically demanding, our early follow-up on translocated root performance shows promising outcomes.

A female presented 2 weeks after birth with an unbalanced atrioventricular canal, double outlet right ventricle, mild pulmonary stenosis, and patent ductus arteriosus that eventually caused pulmonary over circulation. After pulmonary artery banding, she experienced myocardial ischemia, suggesting interference with coronary blood flow by the band that had been placed on the main pulmonary trunk. The band was removed and revised to bilateral branch pulmonary artery banding, and cardiac function improved. An anomalous left coronary artery from the underside of the right pulmonary artery was identified. Eight weeks later, the patient underwent coronary transfer and reimplantation of the left coronary artery into the aorta followed by main pulmonary artery banding. She subsequently underwent bidirectional Glenn.

A 9-year-old boy, diagnosed with double outlet right ventricle after birth, suffered sinus node dysfunction and non-sustained junctional tachycardia after an extracardiac total cavopulmonary connection (TCPC). Spontaneous atrial tachycardia appeared 3 years after an extracardiac TCPC. Sotalol was administered but the bradycardia was obvious. It was difficult to increase sotalol and atrial tachycardia was uncontrollable. Atrial tachycardia continued with symptoms; direct current (DC) cardioversion was frequently required. Five years after extracardiac TCPC, we implanted a pacemaker with atrial antitachycardia pacing (ATP) using epicardial leads. On day 2 post operation, wide QRS tachycardia appeared. Due to decreased blood pressure, DC cardioversion was immediately performed, but it recurred from atrial premature contraction. We judged this was atrial tachycardia with 1:1 atrioventricular conduction based on an intracardiac electrogram and it was terminated by burst atrial pacing from the pacemaker. After changing atrial pacing rate to 150 ppm, atrial tachycardia could be suppressed. Due to atrial pacing and increasing sotalol gradually, junctional tachycardia terminated spontaneously, and atrial tachycardia was not induced after pacemaker implantation. In conclusion, implantation of a pacemaker with ATP and intensification of antiarrhythmic drugs is an effective treatment strategy for pediatric patients with bradycardia-tachycardia syndrome after extracardiac TCPC.

The present study sought to study the imaging associations of left atrioventricular valve (mitral) atresia and patent aortic root in patients with isomerism of atrial appendages as detected on multidetector computed tomography (CT) angiography MATERIALS AND METHODS: The CT angiography studies performed at a tertiary medical center from January 2014 to December 2021 were retrospectively evaluated to identify patients with left atrioventricular valve atresia and patent aortic root with isometric atrial chambers. The morphology of the atrial appendage and extent of pectinate muscles was used to identify the type of isomeric atrial chambers. A comprehensive assessment of discordant arrangement of organs and the variations in venoatrial connections was done.Left atrioventricular valve atresia in the presence of patent aortic root and isomeric atrial appendages was identified in eight patients (four males). The mean age at diagnosis was 7 years. Right isomerism of the atrial appendages was seen in five patients while three patients had left isomerism. Disharmonious patterns of abdominal visceral arrangement were seen in two patients. Atrial and ventricular septal defects were seen in all patients. The most common pattern of ventricular arterial connection was DORV (double outlet right ventricle) (n = 4). While five patients had normally related great arteries, three had aorta anterior to the pulmonary trunk. Right ventricular outflow obstruction was seen in seven patients. Right aortic arch with mirror image branching was seen in four patients. Coronary artery anomalies were seen in four patients.The presence of left atrioventricular valve atresia and patent aortic root with isomeric atrial appendages is a rare congenital anomaly frequently associated with anomalous systemic and pulmonary drainage, conotruncal anomalies, and right ventricular outflow obstruction. Hence, comprehensive CT-based evaluation is indispensable in providing detailed anatomy and aids in presurgical planning.

Objective: We studied a cohort of patients with nonsyndromic complete atrioventricular septal defect with and without concomitant complex cardiac anatomy and compared the outcomes after surgical repair. Methods: Between 1993 and 2018, 62 nonsyndromic patients underwent complete atrioventricular septal defect repair. Sixteen patients (26%) had complex complete atrioventricular septal defect with variables representing concomitant cardiac anatomic complexity: tetralogy of Fallot, double outlet right ventricle, total anomalous pulmonary venous return, concomitant aortic arch reconstruction, multiple ventricular septal defects, staged repair of coarctation of the aorta, and a persisting left superior vena cava. The mean follow-up was 12.7 ± 7.9 years. Baseline variables were retrospectively evaluated and analyzed using univariable logistic regression. Survival was studied using Kaplan–Meier estimates, and group comparisons were performed using the log-rank test. A competing-risk analysis estimated the risk of reoperation with death as the competing event. A Gray's test was used to test equality of the cumulative incidence curves between groups. Results: The perioperative mortality was 3.2% (2/62). Actuarial survival was 100% versus 66.7% ± 14.9% at 10 years in the noncomplex and complex groups, respectively (P < .01). There was no significant difference in the overall reoperation rate between the noncomplex group (7/46; 15%) and the complex group (4/16; 25%) (odds ratio, 1.86; 95% confidence interval, 0.46-7.45; P = .30). The competing-risk analysis demonstrated no significant difference in reoperation between the groups (P = .28). Conclusions: Our data show that nonsyndromic patients without complex cardiac anatomy have a good long-term survival and an acceptable risk of reoperation similar to contemporary outcomes for patients with complete atrioventricular septal defect with trisomy 21. However, the corresponding group of nonsyndromic patients with concomitant complex cardiac lesions are still a high-risk population, especially regarding mortality. (Less)

Background Children with severe congenital heart disease (CHD) are rarely treated in developing countries and have very little to no chance to survive in their local environment. Mecenat Chirurgie Cardiaque (MCC) flies to France children with CHD from developing countries. This report focuses on the early, mid, and late outcomes of 531 children with severe CHD sent to MCC for surgery from 1996 to 2019. Methods The inclusion criteria were based on diagnosis and not on procedure. MCC is present in 66 countries and has developed a robust staff, including 12 permanent employees and 700 volunteers, with 350 host families based in France, 120 local correspondents, and 100 local physicians. Since 1996, MCC has organized a basic training of local pediatric cardiologists yearly, offering a free 1-month training course. Over time, MCC could count on a pool of doctors trained in basic pediatric cardiology. Flights were secured by the Aviation Sans Frontieres Foundation. Nine French centers performed the surgeries. A robust follow-up was conducted in all the nations where MCC operates. Results The most frequent pathologies were single ventricle (n = 126), double-outlet right ventricle (n = 116), pulmonary atresia with ventricular septal defect (n = 68), transposition of the great arteries with ventricular septal defect and transposition of the great arteries with intact ventricular septum (n = 61), arterial trunk (n = 39), transposition of the great arteries with ventricular septal defect and left ventricle outflow tract obstruction (n = 35), complete atrioventricular septal defect (n = 18), congenitally corrected transposition of the great arteries (n = 16), and so on. The median age was 5.4 years (range, 1 month-26 years). The mean perioperative mortality was 5.5% (29 out of 531) (95% confidence limit, 3.5%-7.4%). The follow-up was 91.3%, with a mean follow-up of 5.1 years. The global actuarial survival at 5, 10, and 15 years was, respectively, 85%, 83%, and 74%. There was a significant higher late mortality for patients surviving only with a Blalock-Taussig shunt (P = .001). Conclusions Operating on 531 children with severe CHD from developing nations was achieved with satisfactory early and long-term results. Children with severe CHD are rarely operated on in developing nations. Programs like MCC's offer a viable option to save these children born with severe CHD.

Background Aortopathy is a well-known feature of conotruncal anomalies, but it remains unknown whether valve-sparing aortic root replacement, such as the David procedure, is feasible in young patients with severe aortic regurgitation. We assessed the aortic valve complex and aortic root morphology in patients with conotruncal anomalies using echocardiography. Furthermore, we evaluated the relevant factors associated with aortopathy in this population. Methods A total of 172 adult patients with conotruncal anomalies were enrolled in this study. Dimensions of the aortic valve complex were measured at the level of the sinus of Valsalva (SV) and sinotubular junction (STJ). The geometric height (GH), effective height (EH), and coaptation length (CL) were also assessed to analyze the aortic valve complex in detail. Results Sixteen of 172 patients were excluded due to poor imaging; 105 patients with tetralogy of Fallot, 24 with double outlet right ventricle, and 27 with transposition of the great arteries totaling 156 patients (32+/-11 years old) were included in the analysis. The patients were divided into four groups: Group 1 (98 patients) had no dilatation of SV or STJ; Group 2 (32 patients) had dilated SV and STJ; Group 3 (14 patients) had dilated SV; and Group 4 (12 patients) had dilated STJ. GH and EH in Group 2 were also highest among the four, whereas CL was not significantly shortened. Multivariate analysis revealed that male sex, age, and conduit repair were risk factors for aortopathy in this population. Conclusions Patients with dilated SV and STJ (Group 2) were the most common among the patients with aortopathy (Groups 2, 3, and 4). The aortic valve leaflets themselves were enlarged, and the poor coaptation of the valve tips was compensated in spite of aortic root dilatation, which plays an important role in preventing severe aortic regurgitation in this population. Overall, valve-sparing aortic valve replacement is more feasible in the young populations than we expected.

Background:The effect of prenatal diagnosis on prognosis in patients with transposition of the great arteries is not clear. In this study, we compared the outcomes after arterial switch operation.Methods:Outcome of 112 patients who had arterial switch operation in the neonatal period were analysed. The patients were divided into two groups: those who had prenatal diagnosis (Group 1; n = 34) and those who did not (Group 2; n = 78). The patients were also classified based on their diagnosis: simple transposition, transposition with ventricular septal defect and/or aortic arch hypoplasia, and Taussig–Bing anomaly.Results:In Group 1, the C-section delivery rate was higher (82% vs. 44%; p = 0.004), and it was observed that patients in Group 1 were more often intubated upon admission to the neonatal ICU (38% vs. 9%; p = 0.005). No differences were found between the two groups in terms of operation time, cardiopulmonary bypass time, post-operative invasive respiratory support duration, or extracorporeal membrane oxygenation support. It was observed that those who had Taussig–Bing anomaly had a higher mortality.Conclusions:Timely treatment have a positive effect on neonatal mortality and morbidity. That’s why all families with prenatal diagnosis of critical CHD should be recommended to have the delivery in a tertiary care hospital. Although it could not be demonstrated in this study, prenatal diagnosis has a potential to improve surgical results especially in countries or cities, which does not have enough resources for transfer and surgical units. Further efforts are needed to improve prenatal screening programmes.

Patients with borderline hypoplastic right or left ventricle and VSD may be candidates for either single ventricle palliation or staged ventricular recruitment (SVR) followed by eventual biventricular conversion. Components of SVR include restriction of atrial septal defects (ASD) without ventricular septal defects (VSD) closure and addition of accessory pulmonary blood flow. This study evaluated the impact of ASD restriction on ventricular growth and function. We retrospectively reviewed patients with borderline ventricular hypoplasia and VSD who underwent a staged ventricular recruitment (SVR) procedure from 2012 to June 2019. Pre- and post-recruitment MRI and echocardiogram data were compared and analyzed. We excluded cases in which we intentionally restricted VSD with simultaneous ASD restriction. Forty-six patients (41 with right-dominant ventricle, 25 with risk factors for Fontan procedure) underwent SVR at a median age of 15.1 months' (interquartile range (IQR), 7.2-37.2 months'). The median indexed ventricular end-diastolic volume, end-systolic volume, and stroke volume according to cardiac MRI significantly increased at median 11.0 months' (IQR:7.8~14.1 months') after recruitment. Among them, except 2 operative mortalities after SVR, 26 patients underwent bi-ventricular repair (56.5% including one and a half ventricle repair) at a median of 8.0 months' (IQR: 6.2-12.2 months') after recruitment. Fifteen patients await biventricular completion, and 3 patients underwent single ventricle palliation. Pulmonary blood flow (Qp) tended to increase after recruitment regardless of type of pulmonary blood flow modification without statistical significance. Six patients died at a median duration of 6.5 months' (IQR: 2.9-11.7) after SVR; 3 patients died after biventricular completion, 2 after recruitment, and 1 after returning to single ventricle palliation. All of them were considered poor Fontan candidates due to severe atrioventricular valve regurgitation, pulmonary hypertension, pulmonary vein stenosis, or airway stenosis. Restriction of the atrial septum leads to the growth of hypoplastic ventricle in patients with ventricular septal defects who undergo SVR regardless of the preoperative characteristics, and eventual biventricular repair can be performed in a subgroup of these patients. Future work is necessary to optimize timing of SVR and method of accessory pulmonary blood flow.

The case was a 53-year-old woman. At birth, she was diagnosed with a false Taussig-Bing anomaly with pulmonary artery stenosis and a single ventricle. However, no cardiac surgery was performed, and conservative treatment was continued by a cardiovascular surgeon even after adulthood. Because of secondary polycythemia and a history of multiple cerebral infarctions, she took anti-platelet drugs and anti-coagulants. However, she was admitted with the diagnosis of cerebral infarction for the fourth time. It was considered that the patient was at high risk of paradoxical cerebral embolism due to cardiac malformation with cyanotic congenital heart disease accompanied by coagulation abnormalities. Considering the pathophysiology, we decided to use aspirin in combination with warfarin.

Double outlet right ventricle (DORV) with or without pulmonary atresia is a common indication for Rastelli operation. We very infrequently perform this surgery in our center. Here, we report a case of a ten-year-old girl who recently underwent Rastelli operation and patent ductus arteriosus (PDA) ligation for DORV, pulmonary atresia with ductal dependent pulmonary circulation by using custom-made valved conduit

Background Retinoic acid signaling plays a critical role during embryogenesis and requires tight regulation. Exposure to exogenous retinoic acid during fetal development is known to have teratogenic effects, producing a recognizable embryopathy. Case We describe a case of retinoic acid embryopathy secondary to maternal isotretinoin use until the ninth week of gestation and expand the phenotype to include the rare features of parietal bone agenesis and athelia. Histology of the parietal region showed fibrous tissue with no intramembranous ossification. The fetus also had multiple craniofacial dysmorphisms, thymic agenesis, and transposition of the great arteries with double outlet right ventricle and subaortic perimembranous ventricular septal defect. Neuropathology revealed enlarged ventricles with agenesis of the cerebellar vermis, focal duplication of the central canal and scattered parenchymal ependymal rests, and possible cerebral heterotopias with associated abnormal neuronal lamination. A chromosomal microarray was normal. Conclusion Parietal bone agenesis and athelia are both rare congenital anomalies not previously reported in retinoic acid embryopathy. However, retinoic acid or its degrading enzyme has been demonstrated to exert effects in both of these developmental pathways, offering biological plausibility. We propose that this case may represent an expansion of the phenotype of retinoic embryopathy.

Aims We aim to determine any additional benefit of virtual reality (VR) experience if compared to conventional cross-sectional imaging and standard three-dimensional (3D) modelling when deciding on surgical strategy in patients with complex double outlet right ventricle (DORV). Methods and results We retrospectively selected 10 consecutive patients with DORV and complex interventricular communications, who underwent biventricular repair. An arterial switch operation (ASO) was part of the repair in three of those. Computed tomography (CT) or cardiac magnetic resonance imaging images were used to reconstruct patient-specific 3D anatomies, which were then presented using different visualization modalities: 3D pdf, 3D printed models, and VR models. Two experienced paediatric cardiac surgeons, blinded to repair performed, reviewed each case evaluating the suitability of repair following assessment of each visualization modalities. In addition, they had to identify those who had ASO as part of the procedure. Answers of the two surgeons were compared to the actual operations performed. There was no mortality during the follow-up (mean = 2.5 years). Two patients required reoperations. After review of CT/cardiac magnetic resonance images, the evaluators identified the surgical strategy in accordance with the actual surgical plan in 75% of the cases. When using 3D pdf this reached only 70%. Accordance improved to 85% after revision of 3D printed models and to 95% after VR. Use of 3D printed models and VR facilitated the identification of patients who required ASO. Conclusion Virtual reality can enhance understanding of suitability for biventricular repair in patients with complex DORV if compared to cross-sectional images and other 3D modelling techniques.

A Pentalogia de Cantrell e uma doenca congenita rara, havendo apenas cerca de 250 casos relatados. A sindrome consiste em uma variedade toracoabdominal de ectopia cordis, associada a cinco defeitos principais em: linha mediana anterior supraumbilical de parede abdominal, porcao anterior do diafragma, parte inferior do esterno, pericardio parietal e malformacoes cardiovasculares. A sua letalidade e alta, conforme gravidade e extensao das alteracoes, de forma que a assistencia pre-natal se faz fundamental ao diagnostico precoce e a investigacao das anomalias, a fim de proporcionar um melhor prognostico. Nesse sentido, objetiva-se relatar o caso de um neonato com variante completa da sindrome. O diagnostico foi realizado no periodo intrauterino por meio de avaliacao ultrassonografica, identificando-se defeito de fechamento de paredes toracica e abdominal (onfalocele), ectopia cordis e anomalia estrutural cardiaca. Na ecocardiografia fetal, foram evidenciados: dupla via de saida de ventriculo direito, estenose pulmonar, aorta cavalgando septo interventricular e persistencia de veia cava superior esquerda. Houve interrupcao da gestacao por parto cesariano, com idade gestacional de 36 semanas e 3 dias. O recem-nascido foi submetido a cuidados intensivos e correcao cirurgica, mas faleceu horas depois.

AIM To evaluate the morphology and associated cardiovascular abnormalities in patients with an anomalous subaortic course of brachiocephalic vein on multidetector computed tomography (CT) angiography. MATERIAL AND METHODS A retrospective study was performed at a tertiary referral institute to identify patients with subaortic brachiocephalic vein on multidetector CT (MDCT) angiography using dual source CT scanner between January 2014 and July 2021. The morphology of the subaortic brachiocephalic vein along with the cardiovascular anatomy and associated anomalies were evaluated. RESULTS Out of 4349 patients who had undergone MDCT angiography for evaluation of congenital heart diseases, we identified 126 (2.9%) patients with subaortic brachiocephalic vein. The subaortic brachiocephalic vein was left-sided in 125 patients while a right-sided subaortic brachiocephalic vein was identified in a patient with left isomerism. Common cardiovascular associations included tetralogy of Fallot (109/126; 88.1%), double outlet right ventricle (8/126; 6.3%) and common arterial trunk (5/126; 3.9%). The presence of a right aortic arch was seen in 78/126 (62%) patients. Some degree of right ventricular outflow obstruction was present in 119/126 (94.4%) patients; pulmonary stenosis was seen in 78 (62%) patients while pulmonary atresia was seen in 41 (32.5%) patients. CONCLUSION A subaortic brachiocephalic vein can coexist with various complex congenital heart diseases, most commonly tetralogy of Fallot and commonly associated with right aortic arch and pulmonary stenosis/atresia. It is important to identify this anomalous course of brachiocephalic vein before performing surgical procedures or venous catheterization to avoid potential complications.

Objectives: Present a case of a successful pregnancy in a patient with Double Outlet Right Ventricle (DORV). Materials and Methods: A case report of 36 year old pregnant woman with DORV that underwent Cesarean Delivery in University Airlangga Hospital Suurabaya. Results: Participant: A pregnant 36-year-old patient with a DORV. This patient does not aware if she has Cardiac Disease but patient often complaining easy fatigability after doing light work and developed cardiac symptoms, such as dyspnea since 28 weeks Age of Gestation. Once the symptoms developed, patient was referred to Secondary hospital in Bojonegoro, echocardiography was done and patient was diagnosed with DORV. Since DORV is rare case and complicated, after that patient referred to Airlangga Hospital for further evaluation and treatment. Patient was admitted for 9 days, corticosteroid for lung maturity was given and underwent elective C-Section under epidural anesthesia on 34/35 age of gestation. Course in the ward was unremarkable and patient was discharged post operative day 3. Conclusion: This patient was diagnosed with DORV Subaortic Type and underwent cesarean delivery without complication and delivered baby boy without any congenital anomaly from physical examination. The systemic circulation from this patient was balanced until third trimester because the increase of blood volume. Keywords: Double outlet right ventricle, Congenital heart disease in pregnancy, Delivery, Intrauterine growth restriction, Ventricle septal defect.

OBJECTIVE: This study investigated the cases in which the fetal ascending aorta is larger than the main pulmonary artery on the three-vessel view and aimed to determine the relationship between the larger ascending aorta and major cardiac anomalies.STUDY DESIGN: Pregnancies between 18-24 gestational weeks who underwent detailed second-trimester screening during 2015-2019 were evaluated. Cases whose fetal ascending aorta diameter was larger than fetal main pulmonary artery diameter on the three-vessel view despite normal four-chamber view were analyzed. Prenatal and postnatal echocardiography studies were performed for each case.RESULTS: Fetal ascending aorta diameter larger than fetal main pulmonary artery diameter on the three-vessel view despite normal four-chamber view was detected in 21 fetuses in a total of 3810 pregnancies (0.55%), and 10 (47.6%) of them had major congenital heart disease. The diagnosis of Tetralogy of Fallot, double outlet right ventricle, ventricular septal defect, pulmonary valve stenosis, and moderate to severe tricuspid regurgitation were confirmed with prenatal/postnatal echocardiography studies. The highest ratio of ascending aorta/main pulmonary artery was 1.4 in a fetus with a double outlet right ventricle and pulmonary valve stenosis.CONCLUSION: The fetal ratio of ascending aorta/main pulmonary artery larger than 1 on the three-vessel view may be a sign of certain cardiac anomalies. Nevertheless, this rate is not an indicator of a serious cardiac defect in all cases. Fetal advanced echocardiography and early postnatal cardiac evaluation should be done to confirm the diagnosis.

We present a rare case of double-outlet right ventricle with pulmonary atresia and discontinuous branch pulmonary arteries supplied by bilateral ducti from a right aortic arch. To our knowledge, this is only the second documented case of double-outlet right ventricle with bilateral ducti. (Level of Difficulty: Advanced.), Central Illustration

Purpose: this study was planned to assess the application of three-dimensional (3D) cardiac modeling in preoperative evaluation for complex congenital heart surgeries. Methods: from July 2015 to September 2019, 18 children diagnosed with complex congenital heart diseases (CHDs) were enrolled in this study (double outlet right ventricle in nine patients, complex types of transposition of the great arteries in six patients, congenitally corrected transposition of the great arteries in two patients, and univentricular heart in one patient). The patients' age ranged from 7 months to 19 years (median age, 14 months). Before the operation, 3D patient-specific cardiac models were created based on computed tomography (CT) data. Using each patient's data, a virtual computer model (3D mesh) and stereolithographic (SLA) file that would be printed as a 3D model were generated. These 3D cardiac models were used to gather additional data about cardiac anatomy for presurgical decision-making. Results: all 18 patients successfully underwent surgeries, and there were no mortalities. The 3D patient-specific cardiac models led to a change from the initial surgical plans in 6 of 18 cases (33%), and biventricular repair was considered feasible. Moreover, the models helped to modify the planned biventricular repair in five cases, for left ventricular outflow tract obstruction removal and ventricular septal defect enlargement. 3D cardiac models enable pediatric cardiologists to better understand the spatial relationships between the ventricular septal defect and great vessels, and they help surgeons identify risk structures more clearly for detailed planning of surgery. There was a strong correlation between the models of the patients and the anatomy encountered during the operation. Conclusion: 3D cardiac models accurately reveal the patient's anatomy in detail and are therefore beneficial for planning surgery in patients with complex intracardiac anatomy., NA

OBJECTIVES To document the clinical spectrum and outcomes of fetal double outlet right ventricle (DORV) without heterotaxy in a recent diagnostic era. METHODS Prenatal cases of DORV consecutively diagnosed from 2007 to 2018 were retrospectively identified. Clinical records, including details regarding genetic testing and pre and postnatal imaging were reviewed. RESULTS DORV was diagnosed in 99 fetuses without heterotaxy. The most common anatomic subtype was subaortic ventricular septal defect (VSD) and normally related great arteries with (n = 45, 45%) or without (n = 13, 13%) pulmonary stenosis. The remainder had a subpulmonic VSD with transposed great arteries (n = 15, 15%), atrioventricular valve atresia (n = 24, 24%), or remote VSD (n = 2, 2%). A genetic diagnosis was found in 32 (34%) of 93 tested. Major extracardiac anomalies were found in 40 (40%), including 17/24 (71%) with and 22/69 (32%) without an abnormal karyotype, with VACTERL association in 9. Genetic and/or extracardiac pathology was identified in 37/58 (64%) with a subaortic VSD, 5/15 (33%) with a subpulmonic VSD, 9/24 (38%) of those with AV valve atresia and 2/2 (100%) with a remote VSD. A genetic abnormality was a significant predictor of fetal demise (9/37 vs 1/62 p

OBJECTIVE Bidirectional Glenn procedure is a staged palliative procedure for patients with the univentricular hearts or complex congenital heart disease. We in our study, attempted to evaluate the preoperative characteristics, operative data and the early postoperative outcomes in the patients who underwent Bidirectional Glenn procedure at our center. METHODS In our single center retrospective experience, 115 patients underwent Bidirectional Glenn procedure from January 2015 to December 2019. RESULTS The mean age of the patients was 6.55 ± 6.5 years (range from 9 months to 48 years) and a median of 5 years. The most common anatomic diagnosis was double outlet right ventricle (n = 49, 42.6%). The primary diagnosis and the additional cardiac anamolies were not associated with the adverse outcomes. The increased cardiopulmonary bypass and operative time affect the postoperative outcomes. The median oxygen saturation in the patients postoperatively was 82%. The median postoperative stay was 8 days. The early postoperative complications were seen in 29 patients (25.2%). There were 12 early deaths (10.4%) in our study. The late age of presentation and poor preoperative nutrition, increased the risk of the postoperative morbidity and mortality. CONCLUSION Bidirectional Glenn procedure is an effective procedure to improve efficacy of the gas exchange and reduce volume overload on the single ventricle at early as well as late stages. However, the late age of presentation increases the risk of the postoperative outcomes.

Background: Esophageal atresia is a congenital disorder in which there is no esophagus because the proximal and distal esophagus is not connected. Babies with esophageal atresia can show several symptoms: foamy mouth, cyanosis, coughing and tightness, flatulence, oliguria, or worse, pneumonia symptoms. Accompanying anomalies occur in greater than 50% of neonates with esophageal atresia. Esophageal atresia is identified by ultrasound at 18 weeks of gestation, ultrasound, and Magnetic resonance imaging (MRI) of the fetal neck, or examination of a nasogastric tube in the neck of a newborn. The management of esophageal atresia is challenging. The main choice remains the surgical procedure, which usually involves making a stoma on the proximal esophagus and gastrostomy. However, surgery has risky complications. Case: In this case, it was reported that a 22-day-old baby with tracheoesophageal fistula (TEF) type C with Ventricular Septum Defect and Atrial Septum Defect and Double Outlet Right Ventricle (DORV) underwent esophagostomy surgery with general anesthesia. Conclusion: Anesthesia management with general anesthesia, intubation using intravenous ketamine 3 mg, fentanyl 3µg, atracurium 1.5 mg gives stability for esophagostomy in a patient with a double outlet right ventricle.

Introduction:CHD affects over 1 million children in the United States. Studies show decreased mortality from CHD with newborn cardiac screening. California began a screening programme on 1 July, 2013. We evaluated the effect of mandatory screening on surgical outcomes at Loma Linda University Children’s Hospital since 1 July, 2013.Methods:We evaluated all infants having congenital heart surgery at Loma Linda University Children’s Hospital between 1 July, 2013 and 31 December, 2018. Primary target diagnoses include hypoplastic left heart syndrome, pulmonary atresia with intact ventricular septum, tetralogy of Fallot, total anomalous pulmonary venous return, transposition of the great arteries, tricuspid atresia, and truncus arteriosus. Secondary target diagnoses include aortic coarctation, double outlet right ventricle, Ebstein anomaly, interrupted aortic arch, and single ventricle. Patients were stratified by timing of diagnosis (pre-screen, screen positive, and screen negative). Primary end points were post-operative length of stay, operative mortality, absolute mortality, and actuarial survival.Results:The cohort included 274 infants. Of these, 79% were diagnosed prior to screening (46% prenatally). Only 38% of those screened were positive, with 13% of the cohort having a “missed diagnosis.”Conclusions:Primary targets were more likely to be diagnosed by screening (53%), while secondary targets were unlikely to be diagnosed by screening (10%) (p = 0.004). Outcomes such as length of stay, operative mortality, and actuarial survival were not different based on timing of diagnosis (p > 0.05). Despite late diagnosis, those not diagnosed until after screening did not have adverse outcomes.

A child with repaired double outlet right ventricle presented with Staphylococcus aureus bacteremia. Despite unsuspecting echocardiography on admission and clinical improvement on antibiotics, repeat routine echocardiography detected an aortic pseudoaneurysm, requiring a Ross-Konno operation. In repaired congenital heart defects with bacteremia, close echocardiographic surveillance is required to detect aortic pseudoaneurysm. (Level of Difficulty: Intermediate.), Central Illustration

Abnormal aortic arches (AAAs) cover a spectrum of malformations, including abnormal laterality, branching patterns, and flow-limiting narrowing, which themselves vary from tubular hypoplasia, through discrete coarctation, to complete interruption of the arch. Neonatal surgery within the first days of life is necessary for most of these morphologies. Patch aortoplasty is widely used as it can offer a good haemodynamic result, being tailored to each combination of presenting pathologies. Our study hypothesis was that arch malformations are frequent in DORV and exhibit a plethora of phenotypes. We reviewed 54 post-mortem heart specimens from the UCL Cardiac Archive, analysing morphological features that would potentially influence the surgical repair, and taking relevant measurements of surgical importance. AAAs were found in half of the specimens, including 22.2% with aortic arch narrowing. In total, 70% and 30% of narrow arches had a subpulmonary and subaortic interventricular defect, respectively. Z-scores were significantly negative for all cases with tubular hypoplasia. We concluded that arch malformations are a common finding among hearts with DORV. Surgery on the neonatal aortic arch in DORV, performed in conjunction with other interventions that aim to balance pulmonary to systemic flow (Qp/Qs), should be anticipated and form an important part of multi-modal imaging.

BACKGROUND Double outlet right ventricle (DORV) is a rare and complex congenital heart defect, and the surgical repairs vary with type and pathophysiology consequences. Due to prolonged progressive hypoxemia, severe polycythemia is common in patients with DORV, which ultimately leads to coagulation dysfunction and increases the risk of thrombosis and infarction. Consequently, the anesthetic management is challenging and how to manage severe polycythemia and avoid hypoxia-related complications in such patients is of great significance. CASE SUMMARY Herein, we report the anesthetic management of a 10-year-old female patient with a DORV. She lived in the low-oxygen Qinghai-Tibet Plateau, and presented with severe polycythemia (hemoglobin, 24.8 g/dL; hematocrit, 75%). She underwent a modified Fontan surgery, which was satisfactory and without any perioperative complications. Our anesthetic management highlights the importance of perioperative hemodilution in decreasing the risk of thromboembolism and the importance of correcting coagulopathy in preventing hemorrhage. CONCLUSION Anesthetic management is challenging in rare cyanotic congenital heart disease patients with severe polycythemia. It is important to adopt perioperative hemodilution and correction of coagulopathy in preventing thrombosis and hemorrhage.

Cyanosis persisting after surgical repair of complex congenital heart disease (CHD) may be related to the underlying disease. However, extracardiac causes should be also considered. We report on a patient with heterotaxy syndrome and double outlet right ventricle, in whom postoperative cyanosis was associated with an Abernethy malformation type II causing a hepatopulmonary syndrome. Despite this complex anatomy, interventional closure of the portosystemic shunt was done with a Konar MF™-VSD Occluder. The patient recovered rapidly with relief of cyanosis within one month. This case highlights the importance of a careful diagnostic assessment in patients with complex CHD, who presents cyanoses after surgical repair. In addition, it shows the feasibility and safety of a percutaneous approach with complete closure of the vascular malformation in a patient with a complex anatomy.

Objectives The aim of this study is to share our experience in the prenatal diagnosis and characteristics of double aortic arc and neonatal consequences. Methods We retrospectively analyzed 2153 fetal echocardiography reports between 2014 and 2019 years. Records of 14 fetuses with double aortic arc were examined. Prenatal and postnatal medical records, sonographic images, genetic reports, associated cardiac and extracardiac anomalies, and neonatal clinical results of affected fetuses were reviewed retrospectively. Results DAA was isolated in 9 of 14 (64.2%) cases, while the other five cases had cardiac or extracardiac accompanying ultrasound findings. Three of cases (21.4%) were associated with other heart pathologies, including ventricular septal defect, double outlet right ventricle, and persistent left superior vena cava. In 10 cases (71.43%), the right aortic arch diameter was dominant. The left aortic arc was dominant in two cases and both arcs were symmetrical in the remaining two cases. 22q11 microdeletion was the only chromosomal abnormality and was detected in two of nine patients who accepted genetic analysis. Intrauterine fetal death occurred in two of the cases. After birth, in 58.3% (7/12) of the live born cases various degrees of symptoms. Surgical repair was performed with the division of the aorta to all symptomatic cases at different times according to severity of the complaints. Conclusions Since it can cause severe respiratory distress in the postnatal period and may accompany chromosomal anomalies, it is important to provide antenatal diagnosis of double aortic arc and adequate counseling to the family.

Background Multiple congenital cardiac malformations require pulmonary valve replacement and/or right ventricular outflow (RVOT) reconstruction. Pulmonary valve replacement remains challenging in children owing to the limited growth potential of prosthetic valves. We evaluated outcomes in patients undergoing surgical implantation of a Melody valve in the RVOT. Methods Data were retrospectively collected for 23 patients undergoing surgical Melody valve implantation at Boston Children's Hospital between 2009 and 2019. We assessed postoperative valve function, reintervention rates, and mortality. Results Median age was 1.7 years (range, 2 months to 6 years); 12 patients were aged greater than 2 years (52%). Diagnosis was tetralogy of Fallot in 15 patients (65%); 15 had a prior RVOT operation (65%). The Melody valve was dilated before surgery to a median diameter of 14 mm (range, 10-20 mm). No patients had acute pulmonary regurgitation. One required transcatheter RVOT reintervention before discharge. Median follow-up was 3.7 years (range, 0.02-8.7 years) with moderate or greater pulmonary regurgitation in 2 patients. Catheter-based interventions (mean, 0.83 ± 1.07/patient) occurred at a median of 1 year (range, 16 days to 5.4 years) and included valve expansion for somatic growth (n = 10) and subsequent valve-in-valve replacement (n = 3). Three patients (13%) required surgical valve explant or replacement at a median of 1.0 year (range, 0.6-3.7 years) for Melody-specific indications. One-, 3-, and 5-year freedom from Melody-driven reoperation was 90%, 90%, and 83%, respectively. Conclusions The Melody valve can be surgically implanted in the RVOT of young patients with acceptable early results. These valves can be successfully dilated through transcatheter reintervention to accommodate growth.

OBJECTIVE To analyze the incremental benefit of 3D/4D spatiotemporal image correlation (STIC) fetal echocardiography over 2D fetal echocardiography with respect to the accuracy of identification of anatomic details crucial for surgical decision-making and in predicting surgical approach in fetuses with double-outlet right ventricle (DORV). METHODS This was a retrospective study of fetuses with DORV which had undergone both 2D echocardiography and 3D/4D STIC echocardiography and which underwent surgery postnatally in a tertiary pediatric cardiac center in Kerala between October 2015 and March 2019. All such cases with normal atrial arrangement, concordant atrioventricular connections and balanced ventricles were included. 2D and 3D/4D STIC fetal echocardiographic data were analyzed by two experienced observers blinded to the other dataset. Anatomic variables crucial for surgical decision-making, i.e. location and routability of the ventricular septal defect, relationship of the great arteries and presence of outflow obstruction, were compared between the two modalities with respect to agreement with postnatal echocardiography. The accuracy of prenatal prediction of the surgical pathway was compared between 2D and 3D/4D modalities with respect to the procedure undertaken. RESULTS Included in the study were 22 fetuses with DORV which had undergone both 2D and 3D/4D imaging as well as postnatal surgery. Accuracy of prenatal interpretation of all four anatomic variables was significantly higher using 3D/4D STIC than using 2D fetal echocardiography (19/22 (86.4%) vs 8/22 (36.4%), P

Background Adult congenital heart disease (ACHD) is a highly underrepresented entity in medical literature, especially in the middle-eastern region. Hypothesis This study is the first to assess the prevalence of adult congenital heart disease among the population of Kuwait. Methods After a retrospective register review of patients in Kuwait being followed up in the chest diseases hospital was conducted, patients who fit the inclusion criteria were enrolled in the study. Using the American College of Cardiology Task Force 1 of the 32nd Bethesda conference classification of the severity of ACHD, the patients were classified into those with simple, moderate, and complex congenital heart diseases. The age and gender of the patients, as well as the type repair performed, and the residual cardiac findings were recorded to assess the association between the complexity and residuals. Associations were assessed using STATA 15. Results A total of 611 patients were evaluated over a period of 18 months. The youngest participant was 20 years of age, and the oldest participant was 88 years old. Male participants with moderate congenital heart disease class were more common in our study population. Patients with complex congenital heart disease have more residual cardiac lesion than the moderate or simple groups. Almost (70%) of patients with complex cardiac anomalies have undergone either partial or complete repair. The most prevalent cardiac defect was atrial septal defect (21.5%). Tetralogy of Fallot was the most prevalent defect in the moderate group, representing (13%) of the group. The most prevalent anomaly in the complex group was double outlet right ventricle (DORV) representing (15.38%). Conclusion Adult Congenital heart disease is a growing entity of heart disease due to advanced repair techniques. This population requires registries to document cases and assign specialists for the management and care of this special group of patients. Highlights First database of adult congenital heart disease in Kuwait. The most prevalent heart defect was ASD in Kuwait. TOF was the most prevalent defect in the moderate group; and DORV was the most prevalent in the complex group. Patients with moderate ACHD tended to have a more complete repair than those in the complex group.

We present a case of an 11-year-old boy with a double-outlet right ventricle and a right-sided aortic arch showing anomalous origin of the left subclavian artery from the ascending aorta as the first branch. This case highlights the importance of knowledge of this aberrant anatomy before planning any surgical or endovascular intervention.

To address various problems with conventional surgical procedures for transposition of the great arteries with left ventricular outflow obstruction, the aortic translocation procedure has been reconsidered as an alternative surgical procedure. We developed another innovative translocation technique, the half-turned truncal switch operation, to make use of various anatomical characteristics. The truncal block involving both semilunar valves is harvested en bloc and anastomosed to the opposite ventricular outflow tract after a half-turn. Temporarily detached coronary arteries are re-anastomosed to the reversed aortic wall defects. The key advantage of this half-turned truncal switch operation is the creation of hemodynamically faultless right and left ventricular outflow tracts including competent valve functions and a coronary circulation ensured by the posteriorly translocated aortic valve, the maximally used autologous pulmonary valve, and anastomosis of the coronary arteries to the confronting aortic wall defects.

A 6-month-old, neutered male, Vietnamese potbellied pig presented for evaluation of exercise intolerance and intermittent episodes of exertional cyanosis. Initial diagnostic evaluation revealed arterial hypoxemia. Transthoracic echocardiogram revealed double-outlet right ventricle (DORV) and a subaortic ventricular septal defect. Agitated saline contrast study confirmed the entry of saline contrast from the right ventricle into both pulmonary artery and aorta. Due to deterioration of clinical status, the patient was euthanized 3 months later. Gross necropsy examination was performed confirming the congenital cardiac defects noted on the echocardiogram. To the authors knowledge, this is the first case report of DORV in a Vietnamese potbellied pig.

Background: Three-dimensional printing is increasingly recognized as a valuable tool for congenital heart disease (CHD) procedural planning and education. Cost and complexity currently limit the more widespread adoption of this technology. We sought to demonstrate the accuracy of 3D printed CHD models created from contrast-enhanced magnetic resonance imaging (MRI) and computed tomography (CT) scans using free software and an inexpensive desktop fused filament fabrication (FFF) printer. Methods: Solid segmentations of the intracardiac blood pool were created with the program ITK-SNAP. Using the computer program Meshmixer, the segmentation model was hollowed to create a 0.8 mm shell with the inner surface representing endocardium. Three-dimensional models were created on an FFF printer. Four arteries and a ventricular septal defect (VSD) were 3D printed and measured for accuracy. Five models were used to assess candidacy for biventricular surgical repair and one to guide an interventional catheterization. Results: All six patients underwent intervention planned with the 3D models. The computer model shell walls all achieved specifications within 0.05 mm of the designated 0.8 mm thickness and the original solid blood pool segmentation fit within the hollowed 3D model. The 3D printed arteries and VSD all measured accurately to within 0.5 mm of their source computer model. Conclusion: Accurate 3D printed models of complex, pediatric CHD may be created from volumetric MRI and CT studies using free online software and printed on an inexpensive desktop printer.

BACKGROUND: Congenital heart disease (CHD) entails a broad spectrum of malformations with various degrees of severity and prognosis. Consequently, new and specific healthcare needs are emerging, requiring responsive healthcare provision. Research on this matter is predominantly performed on population-based databases, to inform clinicians, researchers and policy-makers on health outcomes and economic burden of CHD. Most databases contain data either from administrative sources or from clinical systems. We describe the methodological design of the BELgian COngenital Heart Disease Database combining Administrative and Clinical data (BELCODAC), to investigate patients with CHD. METHODS: Data on clinical characteristics from three university hospitals in Belgium (Leuven, Ghent and Brussels) were merged with mortality and socio-economic data from the official Belgian statistical office (StatBel), and with healthcare use data from the InterMutualistic Agency, an overarching national organization that collects data from the seven sickness funds for all Belgian citizens. Over 60 variables with multiple entries over time are included in the database. RESULTS: BELCODAC contains data on 18,510 patients, of which 8926 patients (48%) have a mild, 7490 (41%) a moderately complex and 2094 (11%) a complex anatomical heart defect. The most prevalent diagnosis is Ventricular Septal Defect in 3879 patients (21%), followed by Atrial Septal Defect in 2565 patients (14%). CONCLUSIONS: BELCODAC comprises longitudinal data on patients with CHD in Belgium. This will help build evidence-based provision of care to the changing CHD population. ispartof: INTERNATIONAL JOURNAL OF CARDIOLOGY vol:316 pages:72-78 ispartof: location:Netherlands status: published

Atrioventricular (AV) discordance and ventriculoarterial (VA) concordance in the setting of visceral situs inversus are one of the rarest forms of cardiac malformations. To our knowledge, this is the first reported case of prenatal diagnosis of such rare cardiac anatomy in association with double-outlet right ventricle on fetal echocardiography. The physiology of this cardiac anomaly is similar to that of transposition of the great arteries, and the best surgical option is the atrial switch operation.

Background Systemic atrioventricular valve regurgitation (AVVR) is frequently encountered in adults with congenital heart disease (CHD). Surgical intervention is the mainstay of therapy, but in a specific high-risk subset, percutaneous valve repair might offer a lower-risk alternative. Methods Three patients with complex CHD and severe symptomatic AVVR underwent percutaneous mitral valve repair at a single center. All were deemed to be high-risk for surgery by a multidisciplinary CHD team and provided informed consent for the compassionate use of the MitraClip (Abbott, Santa Clara, CA). Three-dimensional heart models were generated for the procedure, which was performed by an adult CHD cardiologist (who provided imaging support) and an interventional cardiologist with expertise in CHD and percutaneous mitral valve repair. Results The first case was a 39 year-old-woman with [S,L,D] dextrocardia, double outlet right ventricle, mild tricuspid hypoplasia, and a secundum atrial septal defect, who was palliated at age 35 with a right bidirectional Glenn and later developed severe, symptomatic mitral regurgitation, and underwent placement of one MitraClip XTR device. Two patients with L-loop transposition of the great arteries each successfully underwent placement of two MitraClip XTR devices; one patient had a single-leaflet detachment of one of the clips with no change in regurgitation or clip position on follow-up. All patients had significant reduction of AVVR and improvement in NYHA functional class. Conclusions Percutaneous atrioventricular valve repair in adults with CHD is feasible with the MitraClip but requires significant preprocedural planning and a multidisciplinary team that combines CHD and interventional therapeutic expertise.

Objectives:This study aimed to evaluate the clinical features of patients with septum primum malposition, imaging tools used for diagnosis, and their effects on the surgical approach.Materials and methods:Patients diagnosed with septum primum malposition in our paediatric cardiac centre between 1 January, 2015 and 1 January, 2019 were included in the study. In all patients, the age, reason for admission, transthoracic echocardiography, cardiac multidetector CT angiography findings, and subsequent surgical data were evaluated.Results:Fifteen patients were diagnosed with septum primum malposition during the study period. The median age was 12 months (2 months–10 years). Six patients were left isomeric, and the rest were situs solitus; 80% of the patients (n = 12) had additional secundum atrial septal defect. There was cardiac pathology in 46% of the patients (n = 7) in addition to the abnormal pulmonary venous drainage, ventricular septal defect (n = 3), left ventricularhypoplasia (n = 2), cortriatriatum sinister (n = 2), double outlet right ventricle (n = 1), and atrioventricular septal defect (n = 1). There was bilateral superior caval vein in three patients, right-sided superior caval vein in 11 patients, and left-sided superior caval vein in one patient. All three patients with total abnormal pulmonary venous drainage were left atrial isomeric. There were differences between the results of transthoracic echocardiography and CT angiographies in two patients. The surgical strategy was changed in three patients after the preoperative diagnosis of septum primum malposition.Conclusion:Septum primum malposition should be kept in mind during the imaging of complex CHDs specifically during the segmental analysis of the pathologies with heterotaxy syndromes; it should be differentiated from other aetiologies of abnormal pulmonary venous drainage as accurate diagnosis would facilitate the ideal surgery in these complex pathologies requiring a detailed preoperative preparation.

Objective: The study aimed to evaluate the follow-up and outcomes of patients diagnosed with fetal hypoplastic left heart syndrome in the prenatal period. Materials: Between January 2017 and June 2019 the data of 36 patients diagnosed with fetal hypoplastic left heart syndrome (HLHS) in Etlik Zübeyde Hanım Woman’s Health Care Training and Research Hospital (EZH) were evaluated retrospectively. All patients who suspected for any fetal or cardiac anomaly were evaluated in detail ultrasound by two senior perinatologists and a pediatric cardiologist fort a detailed cardiac evaluation. The demographic characteristics, pregnancy follow-up and maternal and fetal outcomes of patients were evaluated. Results: During the study period fetal echocardiography was performed for 10.377 patients. A totally 382 (3.7%) fetuses were diagnosed with congenital heart diseases and 36 (9.4%) of these fetuses were diagnosed with hypoplastic left heart syndrome. Additional extracardiac anomalies were detected in 13 (36.1%) fetuses. Concomitant fetal cardiac anomalies were detected in 15 patients and ventricular septal defect (n: 11) and double outlet right ventricle (n:8) were the most common concomitant cardiac anomalies. Eight pregnancies with fetal HLHS were terminated. The data of 10 patient’s newborns were obtained and none of them lived up to a year. Conclusion: The study revealed that the majority of patients with fetal HLHS are in low-risk population thus the routine fetal cardiac evaluation is of great importance. The prognosis and outcome of the pregnancy diagnosed with fetal HLHS are poor. The option of termination of the pregnancy should be considered.

Congenital heart disease (CHD) is the most common birth defect, and the leading cause of death due to birth defects, yet causative molecular mechanisms remain mostly unknown. We previously implicated a novel CHD candidate gene, SHROOM3, in a patient with CHD. Using a Shroom3 gene trap knockout mouse (Shroom3(gt/gt)) we demonstrate that SHROOM3 is downstream of the noncanonical Wnt planar cell polarity signaling pathway (PCP) and loss-of-function causes cardiac defects. We demonstrate Shroom3 expression within cardiomyocytes of the ventricles and interventricular septum from E10.5 onward, as well as within cardiac neural crest cells and second heart field cells that populate the cardiac outflow tract. We demonstrate that Shroom3(gt/gt) mice exhibit variable penetrance of a spectrum of CHDs that include ventricular septal defects, double outlet right ventricle, and thin left ventricular myocardium. This CHD spectrum phenocopies what is observed with disrupted PCP. We show that during cardiac development SHROOM3 interacts physically and genetically with, and is downstream of, key PCP signaling component Dishevelled 2. Within Shroom3(gt/gt) hearts we demonstrate disrupted terminal PCP components, actomyosin cytoskeleton, cardiomyocyte polarity, organization, proliferation and morphology. Together, these data demonstrate SHROOM3 functions during cardiac development as an actomyosin cytoskeleton effector downstream of PCP signaling, revealing SHROOM3’s novel role in cardiac development and CHD.

Several studies have reported aortic dilation and increased stiffness of the ascending aorta in patients after repair of congenital heart disease (CHD), which may be a predominant cardiovascular risk. However, the clinical significance has not been described in detail. In this retrospective study, 175 repaired patients with complex CHD achieving biventricular circulation and age-matched 39 control subjects were reviewed (median age: 14.9 and 15.7 years, respectively). We measured the diameters of the ascending aorta and descending aorta from catheterization angiograms to yield Z-scores and stiffness indexes (β) using diameter fluctuations corresponding to pulsatile pressures. Clinical profile, peak oxygen uptake during the cardiopulmonary exercise test, and incidence of unscheduled hospitalization during follow-up was also reviewed. Compared with controls, patients with complex CHD, except for those with aortic coarctation, exhibited significant dilation and increased stiffness of the aortic root and ascending aorta, but not of the descending aorta. In this CHD population (n = 147, including 112 conotruncal anomalies), exercise capacities correlated independently with the diameter Z-score and stiffness index of the ascending aorta along with the history of repetitive thoracotomies, reduced forced vital capacity, and right ventricular hypertension. During a follow-up period (median 15.6 years), either dilation (Z-score >3.5) or increased stiffness (β >6.0) of the ascending aorta stratified morbidity, but no synergistic impact was detected. In conclusion, in repaired patients with complex CHD, a stiffened and dilated ascending aorta was frequently found, exerting significant adverse impacts on diminished exercise capacity and morbidity.

Congenital heart defect (CHD) represents the most common birth deformity, afflicting 1% of all births worldwide, and accounts for substantial morbidity and mortality. Increasing evidence highlights the pivotal roles of genetic etiologies in the pathogenesis of CHD, and pathogenic mutations in multiple genes, including TBX5 encoding a cardiac core transcription factor key to cardiovascular morphogenesis, have been involved in CHD. However, due to pronounced genetic heterogeneity of CHD, the genetic determinants underlying CHD in most cases remain obscure. In this investigation, by sequencing analysis of the coding exons and flanking introns of the TBX5 gene in 198 unrelated patients affected with CHD, a novel heterozygous mutation, NM_000192.3: c.692C>T; p. (Pro231Leu), was identified in an index patient with familial double outlet right ventricle (DORV), ventricular septal defect (VSD), and atrioventricular block (AVB). Genetic analysis of the proband's pedigree showed that the mutation co-segregated with the diseases. The missense mutation, which altered the amino acid conserved evolutionarily, was absent from 266 unrelated healthy subjects. Functional analyses with a dual-luciferase reporter assay system unveiled that the Pro231Leu-mutant TBX5 was associated with significantly reduced transcriptional activity on its target genes MYH6 and NPPA. Furthermore, the mutation disrupted the synergistic transactivation between TBX5 and NKX2-5 as well as GATA4, two other transcription factors causally linked to CHD. This study firstly links TBX5 loss-of-function mutation to familial DORV, VSD, and AVB, which provides novel insight into the mechanism underpinning CHD and AVB, suggesting potential implications for genetic evaluation and individualized treatment of patients affected by CHD and AVB.

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

Criss-cross heart (CCH) is a rare congenital cardiac defect defined by crossing of ventricular inflow streams contributing to less than 0.1 % of all congenital heart anomalies. Due to its rarity and complexity, prenatal diagnosis in these patients remains challenging. We sought to describe prenatal findings and postnatal course in eight cases of prenatally diagnosed CCH. This is a retrospective case series of prenatally diagnosed CCH in three centers between 2010-2017. We reviewed fetal echocardiograms as well as postnatal clinical charts and surgical reports. 8 cases of CCH were included. The median gestational age at diagnosis was 27 weeks. 7 patients were found with situs solitus, one fetus with situs ambiguous. In all patients, the four-chamber view was abnormal. There was atrioventricular discordance in half of the patients, while all patients showed ventriculoarterial discordance. All patients were found with additional cardiac anomalies, including ventricular septal defect, double outlet right ventricle, right aortic arch, atrial septal defect and pulmonary stenosis. Three patients underwent amniocentesis without pathological findings. All patients were born alive at a median gestational age of 38 + 2 weeks and survived our median follow-up of 181 days. CCH can be diagnosed prenatally by detailed fetal echocardiography when observing an abnormal four-chamber view with crossing of inflow streams into both ventricles and a lack of parallel orientation of the atrioventricular valve axis due to a clockwise or counterclockwise rotation of the ventricular mass along its axis. With the help of prenatal ultrasound, parental guidance and counselling as well as postnatal pediatric cardiac management can be warranted.ZIEL: Das Criss-cross-Herz (CCH) ist eine seltene angeborene kardiale Fehlbildung, die durch die Kreuzung der Zuflüsse beider Ventrikel definiert ist. Sie macht weniger als 0,1 % aller kongenitalen Herzanomalien aus. Aufgrund dieser Seltenheit und Komplexität stellt die pränatale Diagnose bei den betroffenen Patienten eine Herausforderung dar. Wir möchten die vorgeburtlichen Befunde und den postnatalen Verlauf in 8 Fällen von pränatal diagnostiziertem CCH beschreiben. Dies ist eine retrospektive Fallserie von pränatal diagnostiziertem CCH in 3 Zentren zwischen 2010 und 2017. Wir überprüften fetale Echokardiogramme sowie postnatale Krankenakten und chirurgische Berichte. Eingeschlossen wurden 8 Fälle mit CCH. Bei Diagnose betrug das mediane Alter 27 Gestationswochen. Bei 7 Föten lag ein Situs solitus, bei einem Fötus ein Situs ambiguus vor. Alle Patienten hatten einen abnormalen 4-Kammer-Blick. Bei der Hälfte der Patienten bestand eine atrioventrikuläre Diskordanz, während alle Patienten eine ventrikuloarterielle Diskordanz aufwiesen. Alle Föten wiesen zusätzliche kardiale Anomalien auf, darunter einen Ventrikelseptumdefekt, einen rechten Ventrikel mit doppeltem Auslass, einen rechten Aortenbogen, einen Vorhofseptumdefekt und eine Lungenstenose. Bei 3 Patienten wurde die Amniozentese ohne pathologischen Befund durchgeführt. Alle Patienten wurden in der medianen Gestationswoche 38 + 2 lebend geboren und überlebten unsere mediane Nachbeobachtungsperiode von 181 Tagen. Die CCH kann pränatal durch eine detaillierte fetale Echokardiografie diagnostiziert werden, wenn ein abnormaler 4-Kammer-Blick mit Kreuzung der Zuflüsse beider Ventrikel vorliegt und eine fehlende parallele Orientierung der Atrioventrikularklappen-Achse aufgrund der Rotation der ventrikulären Masse entlang ihrer Achse im oder gegen den Uhrzeigersinn beobachtet wird. Mithilfe der pränatalen Sonografie kann die Betreuung und Beratung der Eltern sowie ein postnatales pädiatrisches Herzmanagement gewährleistet werden.