Outlet Ventricular Septal Defect Research Articles

Case Series of Double Chamber Right Ventricle in Ventricular Septal Defect: Should It Be Missed Out?

Double chamber right ventricle is a rare disorder caused by an abnormal muscular bundle that separates the right ventricle into high- and low-pressure chambers. In this case series, we highlighted two cases with various clinical features while having a double chamber right ventricle. The initial case involves an infant who presented with significant symptoms at the age of two. He was diagnosed with a double chamber right ventricle and an outlet ventricular septal defect. Case two is asymptomatic, with the discovery of a double chamber right ventricle at the age of nine during echo follow-up for the underlying ventricular septal defect. This case series demonstrates the importance of monitoring right ventricular obstruction in patients who have an underlying ventricular septal defect, given the tendency to overlook the presence of a double chamber right ventricle.

Surgery for the right vertical infra-axillary thoracotomy in treatment of outlet ventricular septal defect in children

BackgroundOutlet ventricular septal defect is often associated with aortic valve regurgitation. Early intervention in these subjects is essential to avoid complications of irreversible aortic valve regurgitation after surgery. ObjectiveThis study aims to evaluate the safety and feasibility of right vertical infra-axillary thoracotomy for the treatment of outlet ventricular septal defect in pediatric patients. MethodsThis report includes data from 39 pediatric patients who underwent right vertical infra-axillary thoracotomy from January 2020 to April 2023. The ventricular septal defect was approached via the pulmonary artery and closed using autologous or bovine pericardium. Intraoperative management of associated lesions included tricuspid valve repair, widening of the right ventricular outflow tract with excision of jet lesions, and ligation of the ductus arteriosus. ResultsThe average weight of the pediatric patients was 8.4 ± 6 kg, with the average age at intervention being 17.1 months. Approximately 50 % of the patients exhibited signs of heart failure preoperatively, and in 38.5 % of cases, the defect was located beneath the two great arteries. The mean durations for extracorporeal circulation and cardioplegia were 113.5 ± 22 min and 70.3 ± 17 min, respectively. There were no postoperative deaths, and no patient required conversion to an alternative surgical approach. The average duration of mechanical ventilation was 17.6 ± 20.7 h, and the postoperative hospital stay averaged 6.8 ± 2.2 days. Follow-up was conducted in all patients, with an average duration of 17.4 months. There was one case of mild residual shunt, one case requiring re-intervention for aortic valve regurgitation, and one case of elevated shoulder blade due to damage to the long thoracic nerve. No instances of mammary asymmetry were observed. ConclusionRight vertical infra-axillary thoracotomy is a safe and feasible alternative for the treatment of outlet ventricular septal defect in children. Further studies across multiple centers are recommended to assess the efficacy of this approach.

Ventricular septal defect characteristics influence presence and properties of septal anatomical isthmuses in patients with repaired tetralogy of Fallot

Abstract Background In repaired tetralogy of Fallot (rTOF), the septal anatomical isthmuses (AI), 3, between the ventricular septal defect (VSD) and pulmonary annulus, and 4, between the VSD and tricuspid annulus, are important ventricular tachycardia (VT) substrates when slow conducting. Patients with rTOF can have different VSD characteristics which may influence presence and properties of septal AIs. Methods This study included all consecutive patients with rTOF who underwent electroanatomical mapping (EAM) between 2005 and March 2023 for ventricular arrhythmias, risk stratification, or before pulmonary valve replacement and had a surgical report of initial repair available. Results In 130 of 154 (84%) patients a surgical report was available (35% female, median age at EAM 38 years [IQR 20-49]), with provided VSD details in 90 (69%). The majority of patients had an outlet perimembranous VSD (n=77, 86%), 7 (8%) a doubly-committed juxta-arterial (DC-JA) VSD, and 4 (4%) a muscular outlet VSD. All patients with a DC-JA VSD had a blocked/absent AI 3. Among patients with a DC-JA VSD with a muscular posteroinferior rim, 50% had AI 4, which was not observed in patients with a fibrous posteroinferior rim. In patients with a muscular VSD, AI 4 was present in 25%. In contrast, in patients with an outlet perimembranous VSD, an AI 4 or a blocked/absent AI 3 were rare findings (1% and 4%, respectively). Conclusions VSD characteristics influence presence and properties of septal AIs. In patients with DC-JA VSD septal VT substrates seem to be rare. Detailed surgical information is desirable for patient management.

Outlet Ventricular Septal Defect: A Case Report on the Importance of Multi-Window Sonographic Assessment

Congenital heart disease (CHD) is the existence of structural heart problems since the formation of the heart prebirth. There are different categories of CHD, all having their own unique frequency and severity characteristics. One type of CHD is a ventricular septal defect (VSD), more specifically outlet VSD. A VSD is the most common congenital heart defect; however, their presentation can be quite complex. Color and spectral Doppler transthoracic echocardiography (TTE) are valuable tools used in the diagnosis of VSDs. The often-challenging presentation of these defects requires sonographers to confirm their existence through the parasternal long-axis, parasternal short-axis, apical four chamber, apical three chamber, and apical five chamber scanning windows. Although VSDs are the most common congenital heart defect, their wide-ranging uniqueness and location along the interventricular septum (IVS) to assess all areas along the IVS on all exams, specifically those that demonstrate left-to-right shunting. The objective of this case report was to stress the importance of multi-window assessment during the sonographer’s interrogation of outlet VSDs, due to the potential implications on adjacent anatomy and the potential for surgical intervention.

Survival and outcomes of isolated neonatal ventricular septal defects: A population-based study from a middle-income country.

Limited data on the survival and outcomes of ventricular septal defect (VSD) in middle-income countries are available. Hence, this study aims to determine the survival and factors associated with mortality among neonatal VSD. This is a retrospective, population based study of neonates with isolated VSD born between 2009 and 2019. Kaplan-Meier analysis was used to estimate the overall survival. Cox regression analysis was used to determine factors associated with mortality. There were 726 patients studied, with 82 (11%) of them having trisomy 21. The median age of diagnosis and follow-up was 5 days (interquartile range [IQR]: 2-10 days) and 2.3 years (IQR: 0.6-4.8 years), respectively. Of 726, 399 (55%) were perimembranous, 218 (30%) muscular, and 109 (15%) outlet VSD. VSD was small in 309 (42%), moderate in 337 (46%), and large in 80 (11%). Of 726 patients, 189 (26%) had congestive heart failure (CHF) and 52 (7.2%) developed pulmonary hypertension (PHT). Interestingly, one-third of CHF and PHT resolved over time during follow-up. Only 1 (0.1%) patient had infective endocarditis, 38 (5.2%) developed aortic regurgitation, and none had Eisenmenger syndrome. Overall, 149 (20%) needed surgery, 399 (55%) spontaneously closed, and 178 (25%) remained small. The mortality rate was 3.9% (28), 16 (57%) preoperatively, and 11 (39%) due to pneumonia. Trisomy 21, PHT, and birth weight <2.5 kg were independent factors for mortality with an adjusted hazard ratio of 6.0 (95% confidence interval [CI]: 2.1-16.9), 3.2 (95% CI: 1.2-8.4), and 3.6 (95% CI: 1.7-7.8), respectively. The overall survival at 1, 5, and 10 years was 96% (95% CI: 95-98), 95% (95% CI: 94-97), and 95% (95% CI: 94-97), respectively. Despite limited pediatric and congenital cardiac services in middle-income countries, the overall survival of neonatal VSD is good, with poor outcomes in small infants, PHT, and trisomy 21.

A Case of Antenatal Diagnosis of Ectopia Cordis with Cardiac Disease

Ectopic cordis is a rare anomaly with incidence of 5.5 to 7.9 per one million. In this anomaly, fetal heart is displayed towards outside of the thoracic cavity partially or completely. We describe a case of antenatal diagnosis of Thoracic Ectopia Cordis (EC) with CongenitalHeartDisease (CHD) without any other extracardiac malformations. The mother was referred to our center at 18 weeks of gestation due to abnormal sonography. Fetal Echocardiographic examination showed isolated thoracic ectopia cordis with Double Outlet Right Ventricle (DORV), large inlet to outlet Ventricular Septal Defect (VSD), malposition of Aorta, Pulmonary Atresia with retrograde flow, narrow Pulmonary Artery (PA) and PA branches. Amniocentesis and sonography revealed no other anomaly or chromosomal derangement. Because the diagnosis of Ectopia cordis may be difficult in the fetal period due to multiple factors, meticulous attention should be paid for true diagnosis.

ISUOG Practice Guidelines (updated): fetal cardiac screening.

ISUOG Practice Guidelines (updated): fetal cardiac screening.

Outlet Ventricular Septal Defect: Impact of Surgery on the Late Aortic and Pulmonary Valve Functions

This study retrospectively evaluated long-term post-operative aortic and pulmonary valve functions in outlet ventricular septal defects. We evaluated aortic regurgitation and pulmonary regurgitation using pre- and post-operative echocardiograms. Overall, 158 patients who underwent intracardiac repair due to outlet ventricular septal defects with aortic valve deformity or congestive heart failure were included. The median follow-up period was 7years (interquartile range: 0-17years), without deaths or pacemaker implantations. The age, weight, ventricular septal defect size, and mild aortic regurgitation at surgery were factors associated with post-operative residual aortic regurgitation. Mild pulmonary regurgitation was observed in 12%, 30%, and 40% of patients 5, 10, and 15years after surgery, respectively. There were no significant differences in age and weight at which surgery was performed between patients with mild pulmonary regurgitation and those with less than mild pulmonary regurgitation. However, the number of sutures across the pulmonary valve was associated with post-operative pulmonary regurgitation (P < 0.01). As some patients with mild pre-operative aortic regurgitation may not improve even after surgery, early surgical intervention is necessary when aortic regurgitation appears. Some patients may develop post-operative pulmonary regurgitation in the long term, suggesting the need for careful follow-up.

Flow visualization of a unique case of persistent truncus arteriosus with prolonged survival

A 50-year-old woman was admitted to the coronary care unit due to recurrent chest distress for 30 years. She successfully gave birth to a healthy boy at the age of 24. Physical examination showed a pan systolic multifocal murmur, severe acropachia, and cyanosis (Panel A). Her oxygen saturation was 76% at room air. Both transthoracic echocardiography and computed tomographic angiography suggested a truncus arteriosus (Panels B and C). Cardiovascular magnetic resonance illustrated a large, persistent truncus arteriosus (PTA) arising from the base of the heart, overriding a non-restrictive outlet ventricular septal defect. A single left pulmonary artery originated from the basal of the trunk, where the right pulmonary artery was missing (Panel D). Cardiovascular magnetic resonance 4D flow, a non-contrast, blood flow quantifiable technique, was performed. Streamline flow visualization demonstrated a balanced aortic and pulmonary flow ratio (Panel D; see Supplementary data online, Movie S1), which might be the underlying reason for her unique long survival.

Outcomes of Transcatheter Closure in Outlet-Type Ventricular Septal Defect after 1 Year

<b>Background:</b> Ventricular septal defect (VSD) is the most common congenital heart disease. Transcatheter VSD closure is an effective treatment for patients with muscular and perimembranous VSD. However, there is a limit data for outlet VSD, especially impact to the aortic valve leaflet after transcatheter closure. This study aims to assess the outcomes of transcatheter closure of the outlet-type ventricular septal defect (OVSD) after 1 postoperative year. <b>Methods:</b> A retrospective study was performed including 50 patients who underwent transcatheter (n = 25) and surgical (n = 25) OVSD closure during the exact time frame at two medical centres. <b>Results:</b> The median age and body weight of patients in the transcatheter group were significantly higher than those of patients in the surgical group (7.0 <i>vs.</i> 2.8 years; 27.0 <i>vs.</i> 11.4 kg; <i>p </i>< 0.01). The defect size in the surgical group was significantly larger than that in the transcatheter group (5.0 <i>vs.</i> 3.0 mm; <i>p</i> < 0.01). All OVSD patients have successful transcatheter closure (100%) as effective as surgical closure. Less than small residual shunt was present 20% and 8% immediately after the procedure in the transcatheter and surgical groups (<i>p </i>= 0.50), which decreased to 12% and 4% at the 1-year follow-up (<i>p </i>= 0.61), respectively. No incidence of complete atrioventricular block and other complications was observed in both groups, and no significant differences were noted in the new onset or worsening of the aortic regurgitation in both groups (<i>p </i>= 1.0). <b>Conclusions:</b> Transcatheter treatment could be effectively and safely achieved for OVSD closure at 1-year follow-up.

Mitral valve anomalies in transposition of the great arteries: Anatomical features, surgical management and outcomes

Mitral valve (MV) anomalies can be associated with transposition of the great arteries (TGA), but their influence on the choice of the surgical technique and the outcomes after anatomical repair, mainly mitral regurgitation (MR) and LVOT obstruction, have rarely been addressed. Our study objectives are to describe the MV anomalies found in patients with TGA, the different surgical procedures performed and the fate of the anomalous MV. From 1990 to 2020, 52 patients out of 1590 (3.3%) were identified. Main MV anomalies were a mitral cleft (88%) and anomalies of the subvalvular apparatus (60%) such as abnormal chordae attachments (16/52, 30.8%), straddling (6/52, 11.5%), accessory tissue (7/52, 13.5%) or an abnormal papillary muscle (4/52, 7.7%). The mitral cleft was described as anterior (ejection/outflow tract) in 40 and as AVSD-type in 6. A ventricular septal defect (VSD) was associated in 88.5% (58% outlet) ( Fig. 1 ). Main surgical procedure performed at repair was the arterial switch operation (ASO) ( n = 47, 90.4%). Two patients (3.8%) underwent a Bex-Nikaidoh procedure, 2 (3.8%) a half turned truncal rotation and 1 (1.9%) a “reparation à l’étage ventriculaire” (REV) procedure. Overall survival was 90% at 1 year and 88% at 10 and 20 years during a mean follow-up period of 9.5 years. Ten patients (19.2%) had a concomitant mitral procedure at repair (cleft closure in 7, procedure on the subvalvular apparatus in 6), of which 4 had a preoperative grade ≥ 2 MR. Five patients required reoperation for MR and/or for left ventricle outflow tract obstruction (LVOTO), none of them had previously undergone a mitral procedure at repair. All five underwent cleft closure, with LVOTO relief in 3. Freedom from MV reoperation was 96% at 1 year, 93% at 5 years, and 84.5% at 20 years. Main MV anomalies in TGA are the presence of an anterior cleft and abnormalities of the subvalvular apparatus, frequently associated with an outlet VSD. Mortality and reoperation rates are higher than in the other subtypes of TGA. Mitral repair at initial surgery should be considered only in cases of MR or LVOTO. Reoperation involves cleft closure and LVOTO relief. No MV replacement was required.

Congenital heart defects in the fetus and embryological classification: Cladistics and phylogeny

Congenital heart defects (CHD) are a common cause of fetal death and termination of pregnancy for fetal anomaly (TPFA). No series with sufficient cohort, based on description of the anatomic phenotype of CHD discovered in fetal period, have been published until now. To phenotype all the fetal cardiac specimens of the M3 C collection, which counts more than 1500 hearts. A complete morphological examination of each specimen according to segmental analysis was performed by two observers (MH, LH). We determined the main CHD according to the 11 categories and 23 subcategories of the clinical and anatomical classification of CHD and we coded the associated lesions with IPCCC codes. These codes were recorded in a database including photographs for each heart. To date, we have analyzed 758 cardiac specimens. Among them, 77 were normal (10.2%). The most frequent groups of CHD were: anomalies of the ventricular outflow tracts (VOT, 34%), functionally univentricular hearts (FUV, 24%) and anomalies of atrioventricular junctions and valves (AAVJV, 15%). As an example of a phylogenetic analysis starting from a specific anomaly, a right aortic arch was most frequent in double outlet right ventricle with subaortic ventricular septal defect (VSD) (39%), tetralogy of Fallot group (24%) and outlet VSD (9%). It was almost absent in other anomalies of VOT and other CHD ( Fig. 1 ). These first results confirm the predominance of the anomalies of the VOT. The high rate of FUV and AAVJV underlines the selection bias related to the high number of TPFA for severe CHD or chromosomal abnormality. This anatomical phenotyping of the collection should allow us to identify rare associations of malformations and could change our current way of grouping some phenotypes together. This could help us, by integrating current embryological knowledge, to elaborate a cladistics analysis of CHD, starting from one part of the phenotype.

Interventricular septal hematoma detected by transesophageal echocardiography after congenital heart surgery in an infant: a case report

BackgroundInterventricular septal hematoma is an extremely rare complication following congenital heart surgery. During cardiac surgery, interventricular septal hematomas can be detected only by intraoperative transesophageal echocardiography. Here, we report an interesting case of interventricular septal hematoma that was accidentally found in an infant following ventricular septal defect (VSD) closure.Case presentationTransesophageal echocardiography images were acquired from a 1-month-old boy after surgical repair of a large (6.5 mm) perimembranous outlet VSD with interventricular septal flattening. Surgical correction was performed with auto-pericardium and 7–0 Prolene sutures. The patient was successfully weaned from cardiopulmonary bypass, and transesophageal echocardiography showed no VSD leakage and good ventricular function. However, approximately 30 min later, two anechoic masses were found within the interventricular septum, which were suspected to be interventricular septal hematomas; the larger mass measured 1.51 times 1.48 cm. The swollen interventricular septum showed decreased contractility and compressed both the right and left ventricles. However, there was no change in the size of hematomas or a significant hemodynamic instability for 30 min of observation. Therefore, expecting spontaneous resolution of the hematomas, the interventricular septum was not explored, and the patient was removed from cardiopulmonary bypass. On postoperative day 4, follow-up transthoracic echocardiography revealed thrombi filling the hematomas. The patient was discharged on postoperative day 15 and followed up with regular echocardiographic evaluations.ConclusionsWe describe a unique case of interventricular septal hematoma after VSD closure. Surgical manipulation of perimembranous VSD and injury of the septal perforating artery may contribute to the development of an interventricular septal hematoma. Moreover, conservative treatment and serial echocardiographic evaluation generally show gradual hematoma resolution in hemodynamically stable patients. Pediatric cardiac anesthesiologists should be aware of this rare complication after VSD repair.

Echocardiographic evaluation of ventricular septal defects.

Ventricular septal defects (VSDs) are the most common forms of acyanotic congenital heart disease accounting for 37% of congenital heart disease in children. A VSD is defined by parts of the ventricular septum involved. There are four major types of VSDs: perimembranous, muscular, outlet, and inlet VSDs. Echocardiography is the most important clinical tool to help diagnose and characterize a VSD. Although most VSDs are clinically nonsignificant or close on their own, echocardiography with Doppler and color flow mapping can be used to provide accurate anatomic and hemodynamic evaluation of VSDs in order to determine if surgical or transcatheter-based intervention is needed. Hence, understanding how to use echocardiography to characterize VSDs is of crucial importance when caring for patients with adult congenital heart disease.

Asymmetric Occluder Occlusion of Outlet Ventricular Septal Defect Via a Subaxillary Approach

Surgical transpleural minimally invasive occlusion of perimembranous and muscular ventral septal defects provides excellent results, but there is limited experience in outlet ventral septal defects (OVSDs) because of the specific anatomy and because OVSDs may occur with aortic valve prolapse. The procedure was performed in 84 children (mean age, 2.5 ± 2.3 years; mean weight, 12.1 ± 10.3 kg) between July 2014 and December 2018 at the Children's Heart Center of Henan Provincial People's Hospital. An approximately 2-cm right subaxillary incision was made, and the right ventricle was punctured under transesophageal echocardiographic guidance. The OVSD was occluded under transesophageal echocardiographic guidance with an asymmetric occluder. Mean size of the OVSDs and the occluders was 4.6 ± 1.0 and 6.2 ± 1.2 mm, respectively. No patients died and no complications occurred, such as third-degree atrioventricular block, new aortic regurgitation, reoperation, or serious infection. All patients were observed for 32.1 ± 17.1 months. After surgery, there were 4 cases of residual shunt, which resolved spontaneously during follow-up. No complications, such as reoperation, aortic regurgitation, atrioventricular block, or occluder detachment, were observed during the follow-up period. Occluding OVSDs using an asymmetric occluder through the subaxillary approach was safe and effective, with satisfactory short-term and mid-term results. Further follow-up is required regarding the long-term results.

Tetralogy of Fallot and Outlet Ventricular Septal Defect with Anterior Malalignment Detected at Early Fetal Echocardiography

Objectives: To examine the evolution of tetralogy of Fallot (TOF) and outlet ventricular septal defect (VSD) with anterior malalignment (am) from the initial diagnosis at early fetal echocardiography through the gestation and to evaluate the impact of the first-trimester scan on the outcome. Methods: We identified cases of TOF or outlet VSD with am diagnosed before 16 weeks’ gestation. For all cases, prenatal data and pregnancy outcomes were evaluated. In continuing pregnancies, the evolution in severity of the disease was assessed. Results: Fifty-one fetuses with TOF or outlet VSD with am were diagnosed at early fetal echocardiography. Parents opted for termination of pregnancy in all 23 cases associated with additional anomalies. In 2 of 28 continuing pregnancies, there was an intrauterine death. In the remaining 26, there was progression in severity in 7 (by 20–22 weeks in 3 cases and during the third trimester in the remaining 4). Conclusions: TOF and outlet VSD with am diagnosed before 16 weeks’ gestation can progress in severity throughout pregnancy in over one-quarter of cases. In addition, a high proportion of cases diagnosed in the first trimester may have associated extracardiac anomalies, with a significant impact on clinical management and on the rate of early termination of pregnancy.

Congenitally corrected transposition of the great arteries: is it really a transposition? An anatomical study of the right ventricular septal surface

Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital malformation which associates discordant atrioventricular and ventriculo-arterial connections. Although frequently associated with a ventricular septal defect (VSD), its anatomy remains controversial. This could be due in hearts with usual atrial arrangement to the apparently different anatomy of the left-sided right ventricle compared with a right-sided right ventricle. We wanted to compare the RV septal anatomy between ccTGA, transposition of the great arteries and normal heart and to determine the anatomy of the VSD in ccTGA. We analysed 102 human heart specimens: 31 ccTGA, 36 transpositions of the great arteries, 35 normal hearts. According to the last classification of VSD (ICD-11), VSD were classified as outlet if located above the superoseptalcommissure of the tricuspid valve and inlet if underneath. We measured the lengths of the superior and inferior limbs of the septal band and the angle between the two limbs. To assess the orientation of the septal band, we also measured the angle between superior limb and the arterial valve above. A VSD was present in 26 ccTGA (84%) and was an outlet VSD in 16 cases (61%). The mean angle between the two limbs of the septal band was 76.4° for ccTGA compared with 90.6° for transposition of the great arteries (P=0.011) and 76.1° for normal hearts (P= NS). The mean angle between the superior limb of the septal band and the arterial valve above was 70.6° for ccTGA compared with 90.6° for transposition of the great arteries (P=0.0004) and 69.1° for normal hearts (P= NS). The inferior limb of the septal band was significantly shorter in ccTGA (P<0.0003): SL/IL length ratio was 21.4 for ccTGA, 2.2 for transposition of the great arteries and 1.5 for normal hearts. The typical VSD in ccTGA is an outlet VSD. Its frequent misdiagnosis as an inlet VSD might be explained by the shortness of the inferior limb, which creates the illusion of a posterior VSD, and by the fact that the VSD is usually assessed from the left ventricular aspect. Surprisingly, the orientation of the septal band is similar in ccTGA and normal heart, despite the discordant atrioventricular connections, and different in ccTGA and transposition of the great arteries, despite the discordant ventriculo-arterial connections. These findings suggest that the mechanism leading to transposition in ccTGA and in TGA probably is different. The term 'double discordance' might therefore be more appropriate as a description of this complex anomaly.

SHROOM3 is a novel component of the planar cell polarity pathway whose disruption causes congenital heart disease

Congenital heart disease (CHD) is the most common cause of death due to birth defects. Despite CHD frequency, the etiology remains mostly unknown. Understanding CHD genetics and elucidating disease mechanism will help establish prognosis, identify comorbidity risks, and develop targeted therapies. CHD often results from disrupted cytoarchitecture and signaling pathways. We have identified a novel CHD candidate SHROOM3, a protein associated with the actin cytoskeleton and the Wnt/Planar Cell Polarity (PCP) signaling pathway. SHROOM3 induces actomyosin constriction within the apical side of cells and is implicated in neural tube defects and chronic renal failure in humans. A recent study demonstrated that SHROOM3 interacts with Dishevelled2 (DVL2), a component of the PCP signaling pathway, suggesting that SHROOM3 serves as an important link between acto-myosin constriction and PCP signaling. PCP signaling establishes cell polarity required for multiple developmental processes, and is required for cardiac development. In Preliminary data we utilized a Shroom3 gene-trap mouse (Shroom3gt/gt) to demonstrated that SHROOM3 disruption leads to cardiac defects phenocopy PCP disruption. We also demonstrate that patients with CHD phenotypes have rare and potentially damaging SHROOM3 variants within SHROOM3’s PCP-binding domain. We hypothesize SHROOM3 is a novel terminal effector of PCP signaling, and disruption is a novel contributor to CHD. To test this, we assessed genetic interaction between SHROOM3 and PCP during cardiac development and the ultimate effect on cell structure and movement. Heterozygous Shroom3+/gt mice and heterozygous Dvl2 +/- mice are phenotypically normal. We demonstrated genetic interaction between SHROOM3 and PCP signaling by generating compound heterozygous Shroom3+/gt ;Dvl2 +/- mice and identifying a Double Outlet Right Ventricle and Ventricular Septal Defect in one embryo. We also observed fewer compound heterozygous mice than anticipated by Mendelian rations (observed: 18.4%; expected: 25%; n=76), suggesting potential lethality in utero. Immunohistochemistry demonstrates disrupted actomyosin in the SHROOM3gt/gt mice, characteristic of PCP disruption. These data help strengthen SHROOM3 as a novel CHD candidate gene and a component of the PCP Signaling pathway. Further characterization of this gene is important for CHD diagnosis and therapeutic development.

Retrograde transcatheter closure of perimembranous aneurysmal ventricular septal defects using amplatzer vascular plug II

Introduction Retrograde transcatheter closure of perimembranous aneurysmal ventricular septal defects (pmVSD) can be a better option for transcatheter closure of ventricular septal defect with device placement into ventricular septal aneurysm with fewer complications. Also, a retrograde approach might decrease procedure time and radiation exposure time. Aim The purpose of this study was to report off-label experience using Amplatzer Vascular Plug II (AVPII) for the trans catheter closure of perimembranous aneurysmal VSD. Comparison of haemodynamic effects of ketamine and sevofluorane as in induction of anesthesia. Materials and methods Our series consists of a fifteen child with pmVSD. The mean age was 4.9 years (range: 1.2–10 years), mean left ventricular end-diastolic dimension 38.3 mm. Maximum and minimum defect sizes were 4 and 8 mm by transthoracic echocardiography (mean defect size: 5.2 mm). The procedure was performed under general anesthesia with left heart catheterization for retrograde closure of the defect. The study was done on 15 children from 2016 to 2018 for retrograde transcatheter closure of aneurysmal perimembrance VSDs using an Amplatzer vascular plug II Baseline characteristics of the study patients are set in Table I. All the children who had aneurysmal perimembrance outlet ventricular septal defect with left to right shunt were included for assessment of closure. The children eligiable underwent clinical evaluation that also included electrocardiogram (ECG), and standard echocardiography assessment. Results All participants who met the inclusion criteria were sent to the catheterization laboratory. Following left ventricular angiogram, three patients were excluded as technically nonfeasible. Failure to cannulate the defect in one patient and deficient aneurysmal tissue during left ventricular angiography in two cases. The device was successfully deployed in 12 children with the retrograde technique. In two patients antegrade approach was used using the ADO I device due to deficient aneurysmal tissue. The complete VSD closure rate was 84% immediately, 92% at 24 h, and 92% at the last follow-up. Atrioventricular conduction system was not affected by the procedure in any patients. Arterial complication developed in two patients. There was no device embolization; no aortic regurge developed in any patient. According to children had ketamine in induction of anesthesia HR recorded (122±16) beats /min but the children had sevofuran in indnction of anestherin re corded (108±12) beats/min but not significant different howevere the (MBP) inth children had ketamin had (68±14) mm Hg but the children had sevofluran in induction (60±8) mm Hg but not significant different. Conclusions Retrograde transcatheter closure of pmVSDs using AVPII is a safe and effective alternative method which allow closure of a wider range of VSDs due to availability of wide ranges of AVPII sizes of up to 22 mm in diameter. The retrograde approach can also simply the procedure with less fluoroscopy time and anesthesia time.

Congenitally corrected transposition of the great arteries: Is it really a transposition?

Congenitally corrected transposition of the great arteries (ccTGA) associates atrioventricular discordance and ventriculo-arterial discordance. The anatomy of the associated ventricular septal defect (VSD) remains controversial. We analyzed 102 human heart specimens: 31 ccTGA, 36 TGA, 35 normal hearts (NH), to compare the right ventricular septal anatomy between the 3 groups and to determine the anatomy of the VSD in ccTGA. VSD were classified as outlet if above the septal insertions of the tricuspid valve, inlet if underneath. We measured the lengths of the anterior (AL) and posterior (PL) limbs of the septal band, the angle between the two limbs and, in order to assess the orientation of the septal band, the angle between AL and the arterial valve above (AL-AV). VSD was present in 26 ccTGA (83.9%) and was outlet in 16 cases (62%). Mean AL-PL angle was 76.4° (ccTGA) compared to 90.6° (TGA, P = 0.011) and 76.1° (NH, P = ns). Mean AL-AV was 70.6° (ccTGA) compared to 90.6° (TGA, P = 0.0004) and 69.1° (NH, P = ns). PL was significantly shorter in ccTGA: AL/PL length ratio 21.4 (ccTGA), 2.2 (TGA), 1.5 (NH), P < 0.0003. The typical VSD in ccTGA is an outlet VSD. Its frequent misdiagnosis as an inlet VSD is due to the short PL, which creates the illusion of a posterior VSD. Surprisingly, the orientation of the septal band is similar in ccTGA and NH, despite the atrioventricular discordance, and different in ccTGA and TGA, despite the ventriculo-arterial discordance. ccTGA is not a TGA and the term “double discordance” might be more appropriate.