Double Outlet Right Ventricle Research Articles

A RARE CASE OF DORV IN ADULTHOOD

Background: Double outlet right ventricle (DORV) is a rare cardiac malformation in children and even more rare when it comes to adulthood. Clinical Presentation: We report a boy with DORV with Mitral atresia and hypoplastic Left Ventricle who presented to us with breathlessness on climbing 2 flight of stairs at the age of 22 years.He was not seriously limited when he came to our hospital with complaint of breathlessness on exertion. The mother first noticed him getting breathless on climbing 2 flight of stairs at 5 years of age.The patient had history of recurrent infections in the past with failure to gain weight since childhood.On Examination the Pulse was 90 beats per minute,Spo2 was 85% on Room Air in all four limbs, BP was 90/60 mmhg, no tachypnea.There was Grade 2 clubbing present with cyanosis on the nails of all four limbs. Patient had cleft lip and cleft palate with pes cavus in left foot. On inspection, precordial bulge seen on left side with bony cage deformity and apex impulse in left 5th intercostal space lateral to midclavicular line and visible pulsations in 3rd intercostal space. On palpation, Diastolic thrill present in 2nd left intercostal space with grade 3 parasternal heave. On Auscultation, Grade 3/6 loud harsh diastolic murmur heard over the left precordium and interscapular and infrascapular area with diaphragm of stethoscope in supine position.Soft high pitched early diastolic murmur heard best at left upper sternal border and increased during inspiration. 2D echo suggestive of Double outlet Right ventricle with mitral atresia with hypoplastic left ventricle with pulmonary arterial hypertension and severe pulmonary regurgitation. Discussion: To our knowledge very few cases of DORV survives upto this age without any serious limitation that have been reported.DORV if diagnosed early and operated between the age of 1 year to 3 years have satisfactory results. Some cases that remain asymptomatic or are diagnosed late leads to development of pulmonary hypertension which makes them poor candidates of surgery.It was surprising as this patient have survived till now without any serious limitation or symptoms.

Double root translocation: Early experience on performance of translocated aortic and pulmonary root.

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. 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). 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. 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.

ETS1 loss in mice impairs cardiac outflow tract septation via a cell migration defect autonomous to the neural crest.

Ets1 deletion in some mouse strains causes septal defects and has been implicated in human congenital heart defects in Jacobsen syndrome, in which one copy of the Ets1 gene is missing. Here, we demonstrate that loss of Ets1 in mice results in a decrease in neural crest (NC) cells migrating into the proximal outflow tract cushions during early heart development, with subsequent malalignment of the cushions relative to the muscular ventricular septum, resembling double outlet right ventricle (DORV) defects in humans. Consistent with this, we find that cultured cardiac NC cells from Ets1 mutant mice or derived from iPS cells from Jacobsen patients exhibit decreased migration speed and impaired cell-to-cell interactions. Together, our studies demonstrate a critical role for ETS1 for cell migration in cardiac NC cells that are required for proper formation of the proximal outflow tracts. These data provide further insights into the molecular and cellular basis for development of the outflow tracts, and how perturbation of NC cells can lead to DORV.

Prenatal Diagnosis, Associated Findings, and Postnatal Outcome in Fetuses with Double Inlet Ventricle (DIV).

To assess the spectrum of associated cardiac anomalies, the intrauterine course, and postnatal outcome of fetuses with double inlet ventricle (DIV). Retrospective analysis of prenatal ultrasound of 35 patients with DIV diagnosed between 2003 and 2021 in two tertiary referral centers in Germany. All fetuses underwent fetal echocardiography and a detailed anomaly scan. Postnatal outcome and follow-up data were retrieved from pediatric reports. 33 cases of DIV were correctly diagnosed prenatally. 24 fetuses (72.7%) had a double inlet ventricle with dominant left (DILV), 7 (21.2%) with dominant right ventricular morphology (DIRV), and 2 cases (6%) with indeterminate morphology (DIIV). 4 (16.6%) were Holmes hearts. 5 of the 7 fetuses (71.4%) with DIRV had a double outlet right ventricle (DORV). Malposition of the great arteries was present in 84.8%. Chromosomal abnormalities were absent. Termination of pregnancy was performed in 8 cases (24.2%). 24 fetuses (72.7%) were live-born. 5 (20.8%) were female and 19 (79.2%) were male. The median gestational age at birth was 38+2.5 weeks. All but one child received univentricular palliation. The median follow-up time was 5.83 years with an adjusted survival rate of 91.6% (22 of 24 live-born children). There was one case of Fontan failure at 15.7 years. DIV remains a major cardiac malformation although both prenatal diagnostics and cardiac surgery have improved over the years. The course of pregnancy is commonly uneventful. All children need univentricular palliation. The children are slightly physically limited, develop a normal intellect, and attend school regularly.

Imaging characteristics and associations of left atrioventricular valve atresia and patent aortic root with isometric atrial appendages on multidetector CT.

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 fivepatients 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.

Anesthesia Management in Patient with Uncorrected Double Outlet Right Ventricle Underwent Cesarean Section: Serial Case Report

Background: Double outlet right ventricle (DORV) is a rare cardiac condition in which the heart demonstrates single ventricle physiology. Pregnancy complicates cyanotic heart disease as the decrease in systemic vascular resistance (SVR) worsens the right-to-left shunt. The effect worsens by neuraxial anesthesia for cesarean delivery. Anesthesia for these patients needs understanding for the physiology of DORV in order to maintain stable hemodynamics. Heart defect still become non obstetric main factor causing morbidity and mortality in pregnant woman. Case: We present three case of parturients with DORV scheduled for cesarean section. Elective caesarean section was scheduled using spinal anesthesia hyperbaric bupivacain combined with fentanyl. Hemodynamic during operation was stable. Conclusion: Low dose spinal anesthesia performed in this patient did not cause hypotension and minimal hemodynamic changes because the intensity of the sympathetic block was lower.

Is combined MDCT and echocardiography needed to guarantee accuracy in diagnosis and surgical planning of DORV and associated anomalies?

BackgroundThe term of Double-outlet right ventricle (DORV) is used to describe a spectrum of complex congenital cardiac malformations where anomalies of the ventriculo-arterial alignment are noted where both great arteries (pulmonary artery and aorta) originate completely or predominantly from the right ventricle. The purpose of this study is to evaluate the diagnostic accuracy of electrocardiography (ECG) gated multidetector computed tomography (MDCT) in preoperative assessment of DORV and its associated malformations, providing key anatomic parameters that affect surgical planning.ResultsA total of 50 patients diagnosed by echocardiography with DORV referred from our institute between September 2018 and August 2020 were enrolled. The location of the ventricular septal defect (VSD) to the great vessels and the alignment of the great vessels to each other as well as other associated malformations that affect the surgical planning were assessed by MDCT. The patients were retrospectively classified into subgroups according to the relative positions of the great arteries, the relationship between the great arteries and the VSD, and the presence of associated malformations according to the classification of Society of Thoracic Surgeons database. The diagnostic value of MDCT and transthoracic echocardiography (TTE) in evaluation of associated cardiac malformations apart from double outlet right ventricle was compared in 20 patients, whom surgeries were performed and surgical results were obtained. Fallot type of DORV was the most common clinical type which represented 48% of the patients in which the VSD is committed to the aorta. The second most common clinical type was Taussig–Bing anomaly which represented 30% of the patients and the VSD was seen committed to the pulmonary artery. The atrio-ventricular septal defect (AVSD)/uni-ventricular type represented 16% of the patients in the current study, with pulmonary and systemic venous anomalies, heterotaxy syndrome and situs anomalies were commonly associated. A total of 53 malformations apart from DORV were found in 20 patients whom performed surgical interventions. MDCT detected different vascular and situs anomalies in those patients with 100% sensitivity and 100% positive predictive value compared to 71.4% and 94% respectively in TTE. On the other hand, in our study TTE was superior to MDCT for detection of intracardiac anomalies with 100% sensitivity and 100% accuracy compared to 87.5% and 95% respectively in MDCT.ConclusionsOur study suggested that ECG gated MDCT serves as a rapid, noninvasive imaging modality with good spatial resolution and provides excellent diagnostic image quality and has satisfactory diagnostic accuracy in the preoperative assessment of DORV. It is superior to echocardiography in providing a comprehensive mapping of the anatomy of complex anomalies especially that of extra-cardiac structures such as aorta, systemic veins, pulmonary veins, and pulmonary arteries. However, it can miss tiny intracardiac malformations. So combining the results of MDCT and echocardiography would be beneficial to guarantee the accuracy of diagnosis of DORV.

A Rare Case of Concordant Atrioventricular Connection to L-Looped Ventricles in Situs Solitus: 4-Dimensional Magnetic Resonance Imaging and 3D Printing

An infant male presented with the rare anatomy consisting of situs solitus, concordant atrioventricular connections to L-looped ventricles, double outlet right ventricle (DORV), and hypoplastic aortic arch. 6 months after neonatal aortic arch repair, the morphologic right ventricle function deteriorated, and surgical evaluation was undertaken to determine if either biventricular repair with a systemic morphologic left ventricle or right ventricular exclusion was possible. After initial echocardiography, magnetic resonance imaging (MRI) was used to create detailed axial and 4-dimensional (4D) images and 3-dimensional (3D) printed models. The detailed anatomy of this rare, complex case and its use in pre-surgical planning is presented.

Application value of echocardiography in transthoracic punctural closure of postoperative residual ventricular septal defect of congenital heart disease.

Residual ventricular septal defect (VSD) after congenital heart disease (CHD) is one of the major postoperative complications in cardiac surgery. At present, the commonly used clinical treatment methods for this complication are reoperation to redo surgical repair with cardiopulmonary bypass (CPB) and percutaneous transcatheter device closure, but these 2 methods have their own advantages and disadvantages. Transthoracic punctural closure of residual VSD is a feasible, safe, and novel technique for patients with residual VSD, which avoids not only the risk of difficulties in reoperation under another CPB due to thoracic adhesion, but also the risk of radiation exposure. Moreover, the operation is easier to handle due to short and direct operation path. This study aims to explore the role and value of echocardiography in transthoracic punctural closure of postoperative residual VSD of CHD. A total of 25 patients, who were admitted in the Department of Cardiovascular Surgery, Second Xiangya Hospital, Central South University and accepted transthoracic punctural closure of postoperative residual VSD, were collected. The morphology of the residual VSD and the distance from tricuspid valve and aortic valve were assessed by trans-esophageal echocardiography (TEE) preoperatively, and the location of the punctural point and the direction of puncture were determined. The establishment of delivery track and releasing of occluder device were accurately guided by TEE intraoperatively. The position and morphology of the occluder device, residual shunt, aortic regurgitaion, and outflow obstruction were required close attention in immediately postoperative evaluation. If any dislocation or residual shunt was found, adjustments were needed immediately. Follow-ups were performed at 3-5 days, 1 month, 3 months, 6 months, and 1 year after operation. Occluder location, residual shunt, valvular function, and other complications were observed by transthoracic echocardiography (TTE) to assess the effect of the closure by occluder. Ventricular size and cardiac function were determined to evaluate the state of ventricular remodeling. In addition, cardiac rhythm was monitored by ECG periodically. Of the 25 patients underwent transthoracic punctural closure of postoperative residual VSD, except 1 double outlet right ventricle (DORV) and 1 tetralogy of fallot (TOF) postoperative patients failured and immediately received a thoracotomy surgery with CPB due to excessive size of residual defect and the irregular morphology, the rest 23 patients were successfully closed by the occluders (92.0%). Among the 23 occluders (diameters range from 5 mm to 10 mm), membrane symmetrical VSD occluders were applied to 17 cases, small-waist-large-edge VSD occluder was applied to 1 case, and eccentric VSD occluders were applied to 5 cases. TEE, applied immediately after occlusion, showed the satisfactory position and the shaping of the occluders. There were no residual shunts, no cardiac tamponade, no thrombosis and outflow obstruction. Two patients had small amounts of pericardial effusion. No newly emerging valve reflux was observed. After 3-48 months of observation, there was no device displacement, newly emerging valve reflux, and residual shunt. One case had incomplete right bundle branch block. Guided by TEE, transthoracic punctural closure of postoperative residual ventricular septal defect of CHD is safe and effective. This procedure has broadened the indications for the minimally invasive treatment of CHD and improved the technical system of the minimally invasive treatment of CHD. TEE which can provide accurate diagnosis and guide the whole process plays a decisive role in this operation technique.

Maternal exposures and risks of congenital heart defects

The causes of congenital heart defects are largely unknown. It is likely that there is both a genetic and an environmental component. It is important to understand the environmental factors as they are potentially modifiable and could help in developing strategies for prevention. In this volume of The Journal, 2 reports focus on these issues. Wang et al report on a study from China on maternal folic acid supplementation and risk for fetal congenital heart defects. The authors took advantage of 2 useful databases that include information on exposure and on outcome. They evaluated mothers taking folic acid or a preparation of multiple micronutrients including folic acid (MMFA). They were also able to examine the timing of use of folic acid supplements. It is useful to do this research in China because they do not have the fortification of food with folic acid as in many other countries. They found that maternal periconceptional supplementation with either folic acid or MMFA was associated with a decreased risk of having an infant with congenital heart defects. There was a greater reduction of risk when folic acid was initiated prior to conception. Bolin et al evaluated the relationship between maternal smoking and congenital heart defects in offspring using data from a US Birth Defects Prevention Study. They found an association between maternal periconceptional smoking and septal defects, tricuspid atresia, and double outlet right ventricle (DORV). Maternal age was also important with mothers who were ≥35 years old at delivery and who smoked >15 cigarette per day in the periconceptional period being more than twice as likely to have a child with a septal defect compared to non-smoking mothers of similar age. Because these are both observational studies, they are subject to limitations. Both analyses attempted to control for confounders but were limited to data on confounders present in the databases used. An important point made by both studies is that exposures early in pregnancy are important because cardiac development begins early in pregnancy. From a public health prevention standpoint, this suggests that interventions should begin pre-pregnancy to have the greatest potential for impact on cardiac development. Articles pages 72 and 79 Maternal Smoking and Congenital Heart Defects, National Birth Defects Prevention Study, 1997-2011The Journal of PediatricsVol. 240PreviewTo assess associations between maternal smoking and congenital heart defects (CHDs) in offspring. Full-Text PDF Maternal Periconceptional Folic Acid Supplementation and Risk for Fetal Congenital Heart DefectsThe Journal of PediatricsVol. 240PreviewTo determine the effects of maternal periconceptional supplementation with folic acid or multiple micronutrients containing folic acid on the prevention of fetal congenital heart defects (CHDs). Full-Text PDF

Experience in the Treatment of Pentalogy of Cantrell with Artificial Materials in a Single Clinical Center.

To summarize experience in the treatment of pentalogy of Cantrell (POC) in our hospital and explore the effect of artificial materials in repairing sternal defects. A retrospective analysis was performed on treatment of five children with POC treated by using the Gore-Tex patch and titanium mesh in the Department of Cardio-Thoracic Surgery, Children's Hospital of Chongqing Medical University, from January 2010 to January 2019. The concurrent conditions included double outlet of right ventricle (n = 2), ventricular septal defect (VSD) and atrial septal defect (ASD) (n = 1), VSD and ASD and patent ductus arteriosus (n = 1), and VSD and left ventricular diverticulum (n = 1) in five cases with POC. Color Doppler echocardiography and computed tomography (CT) + three-dimensional (3D) reconstruction of the thorax and abdomen were performed preoperatively. The cardiac malformation was corrected according to color Doppler echocardiography, and a Gore-Tex patch was used to repair the pericardial defect. Titanium mesh was made according to CT 3D reconstruction with a 3D printing mold to repair sternal defects. All patients underwent a one-stage operation, all hearts were eventually repositioned, no deaths occurred after the operation, and follow-up was performed for 6 months to 2 years. The patients recovered well, and the exterior thorax was normal. The diagnosis of POC is not difficult. The priority of surgical treatment for POC is to obtain satisfactory corrections of cardiac malformation. The repair of the pericardial defect with the Gore-Tex patch and the sternal defect with the titanium mesh can make the heart return to the mediastinum, reduce the pressure on the heart, reduce the surgical trauma, reduce the difficulty of repairing the sternal defect, and optimally restore the exterior thorax.

Rastelli operation for double outlet right ventricle, pulmonary atresia with ductal dependent pulmonary flow

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

C22. Cardiac Morphology in Congenital Heart Disease with 3D Modeling, 3D Printing and Augmented Reality Smartphone Application: a Case Series of Cardiac Computed Tomography Assessment of Right Ventricular Outflow Tract Obstruction with Shunt

Abstract BACKGROUND Obstruction of the right ventricular outlet may include stenosis of the Right Ventricular Outflow Tract (RVOT) or the presence of atresia in the valve or pulmonary artery. The Cardiac Computed Tomography (CCT) examination for RVOT obstruction with a shunt has several indications, including pulmonary and coronary artery assessment, and lesions accompanying RVOT obstruction with a shunt. CASE DESCRIPTION In this report, we present five cases with RVOT obstruction with shunts in the form of Tetralogy of Fallot (ToF), pulmonary atresia with Ventricle Septal Defect (VSD), and pulmonary stenosis with Double Outlet Right Ventricle (DORV). The first patient with ToF and infective endocarditis. The second patient with atypical ToF, cardiac dextroposition, and suspect Scimitar Syndrome. The third patient with pulmonary atresia, VSD, and post-R-BT shunt. The fourth patient with pulmonary stenosis, DORV, remote VSD, post-BT shunt, and suspect Criss Cross Heart. The fifth patient with pulmonary stenosis, DORV, RA isomerism, malposition of the great artery, bilateral SVC, and dextrocardia. DISCUSSION The CCT assessment can be carried out in a segmental sequential to systematically and comprehensively approach. For complex lesions, CCT provides 3D printing of the heart and may help to understand the cardiac morphology easily. CCT is a recommended examination for RVOT obstruction with shunt, shows a good sensitivity for assessing BT-shunt, and provides good spatial resolution for assessing the pulmonary and coronary arteries. 3D printing and augmented reality can improve practitioners' understanding of RVOT obstruction with shunt, including the accompanying lesions.

C22. Cardiac Morphology in Congenital Heart Disease with 3D Modeling, 3D Printing and Augmented Reality Smartphone Application: a Case Series of Cardiac Computed Tomography Assessment of Right Ventricular Outflow Tract Obstruction with Shunt

Abstract BACKGROUND Obstruction of the right ventricular outlet may include stenosis of the Right Ventricular Outflow Tract (RVOT) or the presence of atresia in the valve or pulmonary artery. The Cardiac Computed Tomography (CCT) examination for RVOT obstruction with a shunt has several indications, including pulmonary and coronary artery assessment, and lesions accompanying RVOT obstruction with a shunt. CASE DESCRIPTION In this report, we present five cases with RVOT obstruction with shunts in the form of Tetralogy of Fallot (ToF), pulmonary atresia with Ventricle Septal Defect (VSD), and pulmonary stenosis with Double Outlet Right Ventricle (DORV). The first patient with ToF and infective endocarditis. The second patient with atypical ToF, cardiac dextroposition, and suspect Scimitar Syndrome. The third patient with pulmonary atresia, VSD, and post-R-BT shunt. The fourth patient with pulmonary stenosis, DORV, remote VSD, post-BT shunt, and suspect Criss Cross Heart. The fifth patient with pulmonary stenosis, DORV, RA isomerism, malposition of the great artery, bilateral SVC, and dextrocardia. DISCUSSION The CCT assessment can be carried out in a segmental sequential to systematically and comprehensively approach. For complex lesions, CCT provides 3D printing of the heart and may help to understand the cardiac morphology easily. CCT is a recommended examination for RVOT obstruction with shunt, shows a good sensitivity for assessing BT-shunt, and provides good spatial resolution for assessing the pulmonary and coronary arteries. 3D printing and augmented reality can improve practitioners' understanding of RVOT obstruction with shunt, including the accompanying lesions.

Enhanced 3D visualization for planning biventricular repair of double outlet right ventricle: a pilot study on the advantages of virtual reality.

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). 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. 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.

My Heart Has Double Outlet What?

The aim of this case is to illustrate the rarity of this condition alongside complications that can occur post-surgical repair. In addition, the patient who generously consented for this case to be written has wished for increased awareness of double outlet right ventricle (DORV) among aspiring paediatricians, surgeons and cardiologists. A 40-year-old British Caucasian male presented with 2 concurrent episodes of chest pains. He has had a complex surgical repair of his DORV at age 32 with a pulmonary valve replacement which was complicated by endocarditis and an out of hospital ventricular tachycardia (VT) arrest at age 34 which resulted in hypoxic brain injury, permanent short term memory loss and an implantable cardioverterdefibrillator (ICD) insertion. Urgent ICD interrogation revealed evidence of spontaneous fast VT which were terminated back to sinus rhythm with 2 shocks. In view of recurring episodes of VT, commenced amiodarone and arranged further regular follow-up. With a birth prevalence of 0.02% based on the UK’s national congenital anomaly statistics, it is one of the less commonly occurring congenital heart defects in the UK. There has been massive advancement in our understanding of the condition and how to treat it which includes surgical intervention. However, the overall risks regarding mortality and complications post-surgery are still not well understood. Long term complications such as VT as demonstrated in this case carries a potential life-threatening risk and more research is needed in understanding how to effectively screen and prevent it.International Journal of Human and Health Sciences Supplementary Issue-2: 2021 Page: S14

Maternal Smoking and Congenital Heart Defects, National Birth Defects Prevention Study, 1997-2011

To assess associations between maternal smoking and congenital heart defects (CHDs) in offspring. We performed a retrospective case-control study using data for cases of CHD (n=8339) and nonmalformed controls (n=11 020) from all years (1997-2011) of the National Birth Defects Prevention Study. Maternal self-reported smoking 1month before through 3months after conception was evaluated as a binary (none, any) and categorical (light, medium, heavy) exposure. Multivariable logistic regression was used to estimate aOR and 95% CIs. Stratified analyses were performed for septal defects according to maternal age, prepregnancy body mass index, and maternal race/ethnicity. Multiple CHDs displayed modest associations with any level of maternal periconceptional smoking independent of potential confounders; the strongest associations were for aggregated septal defects (OR, 1.5; 95% CI, 1.3-1.7), tricuspid atresia (OR, 1.7; 95% CI, 1.0-2.7), and double outlet right ventricle (DORV) (OR, 1.5; 95% CI, 1.1-2.1). Tricuspid atresia and DORV also displayed dose-response relationships. Among heavy smokers, the highest odds were again observed for tricuspid atresia (aOR 3.0; 95% CI, 1.5-6.1) and DORV (aOR 1.5; 95% CI, 1.1-2.2). Heavy smokers ≥35years old more frequently had a child with a septal defect when compared with similarly aged nonsmokers (aOR 2.3; 95% CI, 1.4-3.9). Maternal periconceptional smoking is most strongly associated with septal defects, tricuspid atresia, and DORV; the risk for septal defects is modified by maternal age.

Fetal heterotaxy: Should we still categorize?

Heterotaxy (HTX) is usually stratified in right (RI) and left isomerism (LI). We analyzed 61 fetal specimens with HTX divided in 5 groups: classic LI [CLI: bronchopulmonary LI, bilaterally absent pectinate muscles (PM), polysplenia, n = 22], non-classic LI (NCLI: one discordant feature, n = 13), classic RI (CRI: bronchopulmonary RI, bilateral extent of PM to the crux, asplenia, n = 12), non-classic RI (NCRI: one discordant feature, n = 6, totally discordant features, n = 8). Non-classic patterns were found in 44% (33% RI, 37% LI). Among those, the status of the spleen was highly variable (NCLI with asplenia 38%, NCRI with single spleen 66%), while the bronchial status was almost always concordant. Intestinal malrotation was present in 83% CRI, 64% CLI, 50% NCLI, 50% NCRI. Extent of PM was highly variable in NCLI (bilaterally left 46%, normal 46%, bilaterally right 8%), and bilaterally right in 83% of NCRI only. Interrupted inferior caval vein was seen in LI only; total extracardiac anomalous pulmonary venous connection (APVC) was seen only in RI, ipsilateral APVC only in LI. A common atrioventricular (AV) junction was constant in RI vs. 66% in LI, with a complete AV canal in 100% RI, 75% LI. Functionally univentricular hearts were found in 67% RI, 46% LI, right in 62.5%. Ventriculo-arterial (VA) connections were abnormal in 100% RI, 59% LI, double outlet right ventricle (DORV) being the most frequent type in all categories. Pulmonary atresia and stenosis were frequent in RI (77%), rare in LI. Aortic arch hypoplasia and coarctation were found almost exclusively in LI (57%). Right-sided aortic arch was found in 67% RI, 6% LI. HTX and isomerism are not synonymous. Extent of PM is not always symmetrical (15%) and cannot therefore be considered the hallmark of HTX. Because HTX includes both abnormal symmetry and random organization of organs, each anatomic feature should be analysed individually rather than trying to categorize.

Pregnancy with double outlet right ventricle in university Airlangga hospital Surabaya

Present a case of a successful pregnancy in a patient with Double Outlet Right Ventricle (DORV). A case report of 36 year old pregnant woman with DORV that underwent Cesarean Delivery in University Airlangga Hospital Suurabaya. 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. 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.

Fetal double outlet right ventricle without heterotaxy syndrome: Diagnostic spectrum, associated extracardiac pathology and clinical outcomes.

To document the clinical spectrum and outcomes of fetal double outlet right ventricle (DORV) without heterotaxy in a recent diagnostic era. 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. 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<0.01) or pregnancy termination (12/35 vs 9/64 p=0.03). Fetal DORV is associated with a high rate of genetic abnormalities and extracardiac pathology. The presence of genetic abnormalities impacts prenatal outcomes and parental decision-making.