Intracardiac Anomalies Research Articles

Complete Pentalogy Of Cantrell: Case Report And Review Of Literature

Introduction: Pentalogy of Cantrell (POC) is a rare congenital anomaly with two sub-categories: complete or partial. Complete has all five defects (anterior diaphragmatic defect, ventral abdominal wall defect, pericardial defect, intracardiac anomalies, and lower sternal defect). The first documented case was described by Cantrell et al. in 1958. Both sporadic and genetic causes have been proposed for POC, with a reported incidence of 5 - 10 cases per one million live births and various clinical presentations. The prognosis of POC depends on the severity of the defects and the associated cardiac anomalies. This case report seeks to increase awareness of this condition, emphasize the need for appropriate counselling in our environment, and review the literature on previous reported cases’ outcomes. Case Presentation: A 5-hour-old term female neonate was referred to our Children Emergency Center with multiple defects (ectopia cordis, sternal cleft, omphalocele, and limb abnormalities) with dysmorphic facies. A diagnosis of POC was made, and multidisciplinary management was instituted. The eviscerated heart and epigastric omphalocele were dressed and evaluated for palliative surgical care. However, she developed complications with sepsis and electrolyte derangements and died from multi-organ failure before any surgical intervention could be carried out. Conclusion: Though rare, the Pentalogy of Cantrell in its classical form does occur in our environment. The presence of extracardiac and limb deformities worsens the outcome. Based on poor outcomes, there is a need to emphasize appropriate antenatal and postnatal assessments to provide effective counselling on termination, neonatal palliative care, and surgical repairs as appropriate.

Prenatal diagnosis in fetal right aortic arch using chromosomal microarray analysis and whole exome sequencing: a Chinese single-center retrospective study

BackgroundRight aortic arch (RAA) is a common congenital aortic arch abnormality. Fetuses with RAA frequently have good outcomes after birth. However, chromosomal abnormalities and genetic syndromes suggest poor prognosis for these patients. So far the underlying genetic etiology is still not identified in most RAA patients based on traditional genetic techniques and a problem is still debated whether fetuses with isolated RAA should be referred for CMA. Our study aims to investigate the genetic etiology of fetuses with right aortic arch (RAA) by chromosomal microarray analysis (CMA) and whole exome sequencing (WES) and evaluate the efficacy of CMA in fetal isolated RAA.ResultsAmong these 153 fetuses, 99 (64.7%) with isolated RAA and 54 (35.3%) with non-isolated RAA; 25.5% (39/153) with additional intracardiac anomalies (ICA), and 19.0% (29/153) with extracardiac anomalies (ECA). Tetralogy of Fallot (n = 10) and persistent left superior vena cava (n = 11) are the most common ICA and ECA, respectively. CMA detected 15 clinically significant copy number variations (CNVs) in 14 cases (9.2%); microdeletion of 22q11.21 was the most common pathogenic CNVs (7.8%). The chromosomal abnormalities rate was higher in non-isolated RAA and RAA with ICA groups than in isolated RAA group (16.7% vs. 5.1%; 20% vs. 5.1%, both p < 0.05). From five cases further undergoing WES, a diagnostic variant in MTOR gene (c.7255G > A, de novo) was first reported in prenatal, extending the prenatal manifestation of Smith–Kingsmore syndrome (OMIM: 616638); a clinically relevant variant c.3407A > T in STAG2 was identified, being inherited from the healthy mother. Moreover, the premature birth and termination rates were higher in non-isolated RAA group than in isolated RAA group (11.1% vs. 1.0%; 37.0% vs. 2.0%, both p < 0.01).ConclusionsWe demonstrate that CMA and WES are useful diagnostic tools for fetal RAA, particularly non-isolated RAA, and all fetuses with RAA should be referred for CMA. The data probably aids in prenatal diagnosis and prenatal counseling of fetal RAA.

Prenatal Diagnosis, Course and Outcome of Patients with Truncus Arteriosus Communis.

Background: The objective of our study was to assess the prenatal course, associated anomalies and postnatal outcome and the predictive value of various prenatal parameters for survival in prenatally diagnosed cases of truncus arteriosus communis (TAC). Methods: We evaluated cases from four centers between 2008 and 2021. Results: In 37/47 cases (78.7%), classification into a Van Praagh sbtype was possible, most had TAC type A1 (18/37 = 48.6%). In 33/47 (70.2%) with available valve details on common trunk valve, most presented with tricuspid valves (13/33 = 39.4%). In the overall sample, 14/47 (29.8%) had relevant insufficiency, and 8/47 (17%) had stenosis. In total, 37/47 (78.7%) underwent karyotyping, with 15/37 (40.5%) showing abnormal results, mainly 22q11.2 microdeletion (9/37 = 24.3%). Overall, 17/47 (36.2%) had additional extracardiac anomalies (17/47 = 36.2%). Additional intracardiac anomalies were present in 30/47 (63.8%), or 32/47 (68.1%) if coronary anomalies were included. Four (8.5%) had major defects. Two (4.3%) intrauterine deaths occurred, in 10 (21.3%) cases, the parents opted for termination, predominantly in non-isolated cases (8/10 = 80.0%). A total of 35/47 (74.5%) were born alive at 39 (35-41) weeks. Three (8.6%) pre-surgical deaths occurred in non-isolated cases. In 32/35 (91.4%), correction surgery was performed. The postoperative survival rate was 84.4% (27/32) over a median follow-up of 51.5 months. Initial intervention was performed 16 (1-71) days postpartum, and 22/32 (68.8%) required re-intervention. Regarding prenatal outcome-predicting parameters, no significant differences were identified between the survivor and non-survivor groups. Conclusions: There exist limited outcome data for TAC. To our knowledge, this is the largest multicenter, prenatal cohort with an intention-to-treat survival rate of almost 85%.

Correlation between types of ventricular septal defect and chromosomal abnormalities in low-risk non-invasive prenatal testing.

The aim of this study was to examine whether there is a correlation between different types of ventricular septal defects (VSD) and chromosomal abnormalities in the low-risk setting of non-invasive prenatal testing (NIPT) and to evaluate the prognosis of fetuses with varying types of VSD. Cases of pregnant women who underwent amniocentesis due to fetal VSD were collected by Tianjin Central Hospital of Obstetrics and Gynecology from May 2017 to May 2022. Exclusions were made for those without NIPT, with high-risk NIPT results, genetic disorders, and those lost to follow-up. Data collected included ultrasound classification of VSD, prenatal NIPT results, copy-number variations (CNVs) results, and neonatal outcomes. The prevalence of pathogenic CNVs was investigated in 74 cases of VSDs. Of these cases, 45 were isolated VSDs (9 muscular and 36 non-muscular) and 29 were non-isolated VSDs (10 with intracardiac and 19 with extra-cardiac structural anomalies). The results revealed that the incidence of pathogenic CNVs was lower in isolated VSDs compared to non-isolated VSDs in a low-risk NIPT condition (χ2 = 9.344, P = 0.002). There was no significant difference in the prevalence of pathogenic CNVs between VSDs with intracardiac and extra-cardiac structural anomalies (P = 0.541). Moreover, VSDs associated with intracardiac structural anomalies had the highest rate of surgical intervention. When NIPT is low-risk and VSD is isolated, the likelihood of fetal chromosomal defects is not increased. However, if there are intra- or extra-cardiac structural abnormalities present alongside VSD, the possibility of pathogenic CNV is considerably greater, necessitating invasive prenatal diagnosis. Isolated muscular VSDs usually do not require surgery, which can be used as a basis for prenatal counseling regarding fetal VSD.

Possibilities of modern methods of cardiac imaging in the diagnosis and preoperative planning of transposition of the great arteries in children: a prospective study

INTRODUCTION: Transposition of the great arteries (TGA) is the classic, most common and severe form of cyanotic congenital heart defects in children, which is characterized by a variety of anatomical and hemodynamic variants, combined with other cardiac anomalies and high infant mortality rates. The surgical treatment and the possibility of performing simultaneous correction of TGA depend on the anatomical and hemodynamic features of the TGA and the presence of combined intra- and extracardiac anomalies, which must be determined using cardiac imaging techniques on the preoperative stage.OBJECTIVE: To evaluate the capabilities of TTE and cardiac CT in the diagnosis and surgical planning of TGA in children.MATERIALS AND METHODS: The study included 29 children with an incoming diagnosis of transposition of the great arteries. The average age of the patients was 31 (14.5; 67) days. All children underwent TTE, 21 — cardiac CT with intravenous contrast enhancement, 6 — catheterization of the cardiac cavities with conventional angiography. Cardiac MRI was not performed due to the severe and unstable general condition of all patients and the significant risks from a longer stay in anesthesia. Capabilities of TTE and cardiac CT in determining combined intra- and extracardiac anomalies were assessed and compared. All data from TTE and cardiac CT were compared with the results of conventional angiography and intraoperative data. The interval between TTE, cardiac CT and angiography or surgery was less than 10 days.RESULTS: The accuracy of TTE and cardiac CT in TGA diagnosis and determining its type was 100% for both methods, however, with regard to determining combined intra- and extracardiac anomalies, the methods play a different role: the accuracy of cardiac CT in determining combined intracardiac anomalies in patients with TGA was 87.7% (AUC 89.3%), for TTE — 97.1% (AUC 97.3%). Comparing the capabilities of the techniques in determining intracardial anomalies, no statistically significant difference was obtained (p=0.092). The diagnostic accuracy of cardiac CT in determining concomitant anomalies of the great vessels and extracardiac pathology was 98% (AUC=98.9%). The sensitivity and specificity of TTE in the comprehensive assessment of concomitant extracardiac anomalies were 58% and 98%, respectively (accuracy 89.1%), AUC 81.1%. Comparing the capabilities of techniques in determining intracardial anomalies, cardiac CT showed to be a more accurate tool in comparison with TTE (p=0.041).DISCUSSION: Results of our study demonstrate the high efficiency of TTE in determining indications for emergency palliative correction of transposition of the great arteries, however, the method has limited diagnostic capabilities in assessing surgical risks when planning radical correction of the defect. Cardiac CT has proven to be a highly accurate tool both in making a diagnosis and in identifying combined intra- and extracardiac anomalies, which play a decisive role in planning open surgical correction of transposition of the great arteries in children.CONCLUSION: For patients with TMA and critical hypoxia, transthoracic echocardiography is the definitive diagnostic tool for planning endovascular repair. When planning open surgery, transthoracic echocardiography should be complemented by cardiac CT with ECG gating to assess the anatomy of the coronary arteries and possible associated extracardiac anomalies.

Prenatal cardiac findings and 22q11.2 deletion syndrome: Fetal detection and evaluation.

Clinical features of 22q11.2 microdeletion syndrome (22q11.2DS) are highly variable between affected individuals and frequently include a subset of conotruncal and aortic arch anomalies. Many are diagnosed with 22q11.2DS when they present as a fetus, newborn or infant with characteristic cardiac findings and subsequently undergo genetic testing. The presence of an aortic arch anomaly with characteristic intracardiac anomalies increases the likelihood that the patient has 22q11.2 DS, but those with an aortic arch anomaly and normal intracardiac anatomy are also at risk. It is particularly important to identify the fetus at risk for 22q11.2DS in order to prepare the expectant parents and plan postnatal care for optimal outcomes. Fetal anatomy scans now readily identify aortic arch anomalies (aberrant right subclavian artery, right sided aortic arch or double aortic arch) in the three-vessel tracheal view. Given the association of 22q11.2DS with aortic arch anomalies with and without intracardiac defects, this review highlights the importance of recognizing the fetus at risk for 22q11.2 deletion syndrome with an aortic arch anomaly and details current methods for genetic testing. To assist in the prenatal diagnosis of 22q11.2DS, this review summarizes the seminal features of 22q11.2DS, its prenatal presentation and current methods for genetic testing.

Understanding the Mechanisms of Main Bronchial Compression in Patients with Intracardiac Anomalies

BackgroundThe study focuses on vascular compression of the main bronchus in the aortopulmonary space, examining potential contributors within the same axial plane. Its goal is to uncover mechanisms of bronchial compression in patients with intracardiac anomalies and review surgical outcomes, aiming to enhance future results. MethodsThe morphology and topology of structures within the axial plane of the aortopulmonary space were objectively analyzed, including the sternum, ascending aorta, heart, pulmonary artery, descending aorta, and other relevant elements. Identified deviations from the normal configuration were systematically identified. Operative procedures included mobilizing and removing the compressing vessel, followed by suspending the airway wall to a rigid prosthesis (external stenting), vertebra, or ascending aorta. ResultsComputed tomography revealed potential factors contributing to bronchial stenosis, including anteriorly deviated descending aorta (20 patients), dilated pulmonary artery (6), cardiomegaly (12), flat chest (7), funnel chest (3), posteriorly deviated ascending aorta after arterial switch operation (3), low aortic arch (3), and aberrant subclavian artery (2). Kaplan-Meier analysis demonstrated operative survival rates of 96% at 1 year, 87% at 5 years, and 80% at 8-15 years. Ten-year follow-up computed tomography after external stenting procedure revealed the narrowest diameter of the stented bronchus as 94.4% of the reference. ConclusionsConsistent long-term airway patency was observed post-surgery. While the pulmonary artery and descending aorta exert direct compressive effects in most cases, various other potential mechanisms may contribute to bronchial compression. Identifying and addressing these factors through a multidisciplinary approach is crucial for sustaining bronchial patency and preventing complications.

Associated Anomalies and Outcome in Patients with Prenatal Diagnosis of Aortic Arch Anomalies as Aberrant Right Subclavian Artery, Right Aortic Arch and Double Aortic Arch

We aimed to evaluate retrospectively associated anomalies and outcome in prenatal aortic arch anomalies (AAAs). We included ninety patients with aberrant right subclavian artery (ARSA), right aortic arch (RAA) with mirror image branching (RAA-mirror) or aberrant left subclavian artery (RAA-ALSA) and double aortic arch (DAA) between 2011 and 2020. In total, 19/90 (21.1%) had chromosomal anomalies, the highest rate being within the ARSA subgroup (17/46, 37%). All (13/13) of the RAA-mirror subgroup, 10/27 (37.0%) of RAA-ALSA, 13/46 (28.3%) of ARSA and 0/4 within the DAA subgroup had additional intracardiac anomaly. The rate of extracardiac anomalies was 30.7% in RAA-mirror, 28.3% in ARSA, 25.0% in DAA and 22.2% in the RAA-ALSA subgroup. A total of 42/90 (46.7%) had isolated AAAs: three (7.1%) with chromosomal anomalies, all trisomy 21 (3/26, 11.5%) within the ARSA subgroup. Out of 90, 19 (21.1%) were lost to follow-up (FU). Two (2.2%) intrauterine deaths occurred, and six (6.7%) with chromosomal anomalies terminated their pregnancy. In total, 63 (70.0%) were liveborn, 3/63 (4.8%) with severe comorbidity had compassionate care and 3/60 (5.0%) were lost to FU. The survival rate in the intention-to-treat cohort was 53/57 (93%). Forty-one (77.4%) presented with vascular ring/sling, two (4.9%) with RAA-ALSA developed symptoms and one (2.4%) needed an operation. We conclude that intervention due to vascular ring is rarely necessary. NIPT could be useful in isolated ARSA cases without higher a priori risk for trisomy 21 and after exclusion of other anomalies.

Foramen ovale flap aneurysm in fetuses associated with and without heart defects: Prenatal diagnosis, imaging, in-utero hemodynamics, pregnancy, and postnatal outcomes.

Isolated redundant foramen ovale flap aneurysm (RFOA) in the absence of restrictive foramen ovale is believed to be a cause for pseudocoarctation of aorta since the impediment of blood flow to the left heart can be severe, resembling the picture of left ventricular hypoplasia with retrograde aortic flow. The primary objective of the study is to find whether RFOA is always a benign lesion. The main focus of the study is to share my experience in particular on fetuses having redundant foramen ovale flap aneurysm developing into coarctation of aorta and to study the associated factors. Retrospective study (January 2020 to June 2023). All fetuses with RFOA associated with and without congenital heart defects were included. Fetuses with restrictive foramen ovale and RFOA with single ventricle hearts were excluded. The imaging, in-utero hemodynamics, pregnancy, and postnatal outcomes with at least 3 months follow-up were presented. During the study period, a total of 1499 fetal echocardiography were performed. Twenty-two fetuses with RFOA were included. Fourteen fetuses had isolated RFOA and eight had associated abnormalities [extracardiac (n=5); intracardiac (n=2), Both (n=1)]. Genetic evaluation were performed only in fetuses with associated defects were normal. Postnatally all isolated RFOA fetuses had no aortic arch obstruction. Fetuses with associated aberrant right subclavian artery, isolated left superior vena cava, absent ductus venosus and ventricular septal defects developed aortic arch obstruction after birth. RFOA causes smallish left ventricle in fetuses with tetralogy of Fallot which recovered to normal size postnatally. Isolated RFOA can be benign, however, if it is associated with cardiac or extracardiac anomalies predominantly resulted in aortic arch obstruction. Though it is a cause for pseudocoarctation of aorta, through postnatal reassessment of aortic arch is mandatory. Careful search for intracardiac and systemic venous anomalies is recommended. It created confusion regarding adequacy of left ventricle when associated with congenital heart defects.

Cross or Not to Cross-Dilemma of the Pulmonary Arteries.

We aimed to assess the frequency of criss-cross pulmonary arteries and associated intracardiac and vascular anomalies in patients who underwent CT angiography due to suspected congenital heart disease or vascular anomaly at our hospital. We retrospectively evaluated the CT angiography images of 355 patients aged 0-18years between April 2018 and December 2022. The presence of the criss-cross pulmonary artery anomaly was assessed. Additionally, in patients with a criss-cross pulmonary artery anomaly, accompanying branch pulmonary artery anomalies, aortic arch anomalies, and other vascular-cardiac anomalies were also evaluated. A total of 331 patients' images were evaluated. Criss-cross pulmonary artery anomaly was present in 57 patients (17.2%). Pulmonary artery branch anomaly was present in 16, aortic arch anomaly in 40 patients (70%) with criss-cross pulmonary artery anomaly, while associated intracardiac pathology (by echocardiography) was detected in 43 patients (75.4%). The frequency of criss-cross pulmonary artery was found to be significantly higher in patients with any aortic arch anomaly (p = 0.01). This study represents one of the largest series of patients with criss-cross pulmonary artery anomalies. Our results suggests that it may be more common than previously recognized and potentially overlooked. It is crucial to consider the presence of this anomaly in patients with complex aortic arch anomalies or cardiac pathologies, as it may have implications for surgical approaches and potential complications. Increased awareness of this anomaly among cardiologists and radiologists is necessary for accurate diagnosis and appropriate management.

Management Strategies for Congenital Heart Disease Comorbid with Airway Anomalies in Children

To assess management strategies for pediatric patients with the challenging combination of congenital heart diseases (CHD) and airway anomalies. Patients diagnosed with CHD and airway anomalies in the Pediatric Cardiac Surgery Centre of Fuwai Hospital from January 2016 to December 2020 were included in this retrospective study. Patients were divided into three groups based on different management, including the conservative group, the slide group (slide tracheoplasty), and the suspension group (suspension with external stenting). Patients' data and CT measurements from medical records were reviewed. A total of 139 patients were included in the cohort; 107 had conservative airway treatment (conservative group), 15 had slide tracheoplasty (slide group), and 17 had tracheal suspension operation (suspension group). The top three associated intracardiac anomalies were ventricular septal defect (N=34, 24%), pulmonary artery sling (N=22, 16%), and tetralogy of Fallot (N=15, 11%). Compared with patients with conservative airway management (100 minutes [median], 62-152 [interquartile range, IQR]), the extra airway procedure prolonged cardiopulmonary bypass (CPB) duration, with 202 minutes (IQR, 119-220) for the slide group and 150 minutes (IQR, 125-161) for the suspension group. Patients who underwent slide tracheoplasty required prolonged mechanical ventilation (129 minutes [median], 56-328 [interquartile range]). Of the total cohort, 6 in-hospital deaths, all in the conservative group, and 8 mid- to long-term deaths, with 6 in the conservative group, occurred. Both conservative and surgical management of CHD patients with airway anomalies have promising outcomes. Extra tracheobronchial procedures, especially the slide tracheoplasty, significantly prolonged CPB duration. Based on multi-disciplinary team assessment, individualized management strategies should be developed for these patients.

The prenatal diagnosis and prognosis of fetal right aortic arch and double aortic arch malformation: A single-center study.

This study aimed to characterize the pathological types, diagnosis, chromosomal abnormalities, and postnatal clinical manifestations of right and double aortic arch malformations in fetuses. In this retrospective study, all fetuses diagnosed with right or double aortic arch anomalies for whom conventional two-dimensional echocardiography combined with spatio-temporal image correlation was performed at our tertiary referral center between December 2012 and December 2021 were included. In total, 234 fetuses with aortic arch abnormalities were identified. Forty-one cases lost to follow-up. One hundred ninety-three cases were included in this study. One hundred eighty-seven cases with right aortic arch. Six cases with double aortic arch. Most cases of right aortic arch with aberrant left subclavian artery (77/101, 76.2%) were isolated lesions, whereas most of those with mirror-image branching (45/75, 60%) were associated with intracardiac or extracardiac anomalies. Chromosomal abnormalities were screened prenatally in 113 fetuses with right aortic arch, among whom three with aberrant left subclavian artery (3/63, 4.8%) and eight with mirror-image branching (8/50, 16%) had chromosome anomalies (p < 0.05). Furthermore, three cases had microdeletion 22q11.2 and these were significantly associated with intracardiac malformations. Most cases of isolated right aortic arch do not present with clinical symptoms except isolated left subclavian artery and isolated left brachiocephalic trunk. In addition, the risk of chromosomal abnormalities in patients with isolated right aortic arch is very low. We recommend that pregnant women should be informed of the risks and benefits of undergoing invasive prenatal chromosomal detection.

COMPARISON BETWEEN ECHOCARDIOGRAPHY AND CARDIAC COMPUTED TOMOGRAPHY FOR THE DIAGNOSIS OF CONGENITAL HEART DISEASES

Congenital heart disease (CHD) is a significant cause of morbidity and mortality worldwide. Accurate diagnosis is crucial for appropriate management and intervention. Echocardiography and cardiac computed tomography (CT) are commonly used for diagnosing CHD, yet their diagnostic reliability in a specific clinical setting requires evaluation. The objective of the study was to assess the diagnostic reliability of echocardiography and cardiac computed tomography (CT) for congenital heart disease (CHD) at Jinnah Hospital in Lahore. A cross-sectional study was conducted at the Department of Radiology, Chaudhary Pervez Ellahi Institute of Cardiology, from January 2022 to December 2022. One hundred patients suspected of congenital cardiac disorders were enrolled, spanning various age groups. Data were collected retrospectively, including procedure notes, CT scan results, echocardiograms, and demographic information. Descriptive statistics were used to analyse the data, with median and percentiles calculated using SPSS. A significance level of p &lt; 0.05 was considered statistically significant. Of the 100 patients included in the study, 69 were men, and 31 were women, with ages ranging from a few days to eighteen years. Two categories of malformations were identified: intracardiac and extracardiac. Using surgical and conventional angiography results as the gold standard, 544 anomalies were confirmed and analysed, including 46 extracardiac and 196 intracardiac findings. Echocardiography demonstrated an overall diagnostic accuracy of 96.86%, while cardiac CT exhibited a diagnostic accuracy of 98.27% for cardiac congenital abnormalities. Based on the results, the cardiac computed tomography (CT) provides superior visualization of extracardiac abnormalities, with a diagnostic accuracy of 99.02%. In contrast, echocardiography remains the preferred modality for detecting intracardiac anomalies, boasting a diagnostic accuracy of 99.31%. The complementary use of echocardiography and cardiac CT enhances the assessment and evaluation of congenital heart diseases, facilitating surgical planning and intervention.

Comparison of Cardiac Computed Tomography and Echocardiography for the Diagnosis of Congenital Heart Diseases

Objectives: To compare the diagnostic accuracy of cardiac Computed Tomography (CT) and echocardiography for the diagnosis of congenital heart diseases (CHD) at Rehman Medical Institute (RMI), Peshawar. Methodology: We conducted a cross sectional study at Rehman Medical Institute between January 2020 to July 2022. Patients of different ages referred for suspicion of congenital heart diseases were enrolled. The data was collected prospectively which included demographics, Echocardiography findings, CT scan results and procedure notes. Data was analyzed on SPSS the results of descriptive variables expressed as median and percentile. A p-value &lt;0.05 was considered significant. Results: We included 129 patients, with 73 male and 56 females having age from few days to 18 years. The malformations were divided into intra and extra cardiac groups. 665 malformations were confirmed and analyzed keeping surgical and conventional angiography findings as gold standard. Among these 283 were intra and 99 extra cardiac findings. The echo and CT scan missed 2 and 4 intracardiac anomalies respectively. In case of extracardiac anomalies echo missed 14 anomalies however CT correctly diagnosed all. Both intra and extracardiac results are significant with a p value &lt;0.05. Conclusion: We conclude that Echocardiography is preferred modality for intracardiac anomalies evident by 99.3% diagnostic accuracy while CTA provides better demonstration of extra cardiac abnormalities having diagnostic accuracy of 99.9%. Echocardiography and CTA are both complementary for assessment and evaluation of congenital heart diseases acting as guide to surgery.

Genetic and Clinical Features of Heterotaxy in a Prenatal Cohort.

Objectives: Some genetic causes of heterotaxy have been identified in a small number of heterotaxy familial cases or animal models. However, knowledge on the genetic causes of heterotaxy in the fetal population remains scarce. Here, we aimed to investigate the clinical characteristics and genetic spectrum of a fetal cohort with heterotaxy. Methods: We retrospectively investigated all fetuses with a prenatal diagnosis of heterotaxy at a single center between October 2015 and November 2020. These cases were studied using the genetic testing data acquired from a combination of copy number variation sequencing (CNV-seq) and whole-exome sequencing (WES), and their clinical phenotypes were also reviewed. Result: A total of 72 fetuses diagnosed with heterotaxy and complete clinical and genetic results were enrolled in our research. Of the 72 fetuses, 18 (25%) and 54 (75%) had left and right isomerism, respectively. Consistent with the results of a previous study, intracardiac anomalies were more severe in patients with right atrial isomerism than in those with left atrial isomerism (LAI) and mainly manifested as atrial situs inversus, bilateral right atrial appendages, abnormal pulmonary venous connection, single ventricles or single atria, and pulmonary stenosis or atresia. In 18 fetuses diagnosed with LAI, the main intracardiac anomalies were bilateral left atrial appendages. Of the 72 fetuses that underwent CNV-seq and WES, 11 (15.3%) had positive genetic results, eight had definitive pathogenic variants, and three had likely pathogenic variants. The diagnostic genetic variant rate identified using WES was 11.1% (8/72), in which primary ciliary dyskinesia (PCD)-associated gene mutations (CCDC40, CCDC114, DNAH5, DNAH11, and ARMC4) accounted for the vast majority (n = 5). Other diagnostic genetic variants, such as KMT2D and FOXC1, have been rarely reported in heterotaxy cases, although they have been verified to play roles in congenital heart disease. Conclusion: Thus, diagnostic genetic variants contributed to a substantial fraction in the etiology of fetal heterotaxy. PCD mutations accounted for approximately 6.9% of heterotaxy cases in our fetal cohort. WES was identified as an effective tool to detect genetic causes prenatally in heterotaxy patients.

Comparisons of foramen ovale flap in the fetuses with true and false positive diagnosis of coarctation of the aorta.

Accurate diagnosis of coaractation of aorta (CoA) remains challenging because of its relatively low sensitivity and specificity. It is difficult to distinguish true CoA from a normal physiological right-sided dominance or ventricular discrepancy caused by intracardiac minor anomalies. Redundant foramen ovale flap (RFOF) may cause ventricular disproportion. All fetuses suspected with CoA on routine screening ultrasound were retrospectively reviewed and allotted into two groups: postnatally confirmed CoA (true positive group) and prenatally suspected CoA but without CoA postnatally (false positive group). Sixty-nine normal fetuses were included as a normal group (normal group). The diameters of FOF and left atrium (LA) were measured in the four-chamber view and FOF/LA ratio ≥0.65 was considered as RFOF. Cardiac parameters between groups were compared. Fifty-seven fetuses undergoing echocardiography for suspicion of CoA were enrolled; 11 (19.2%) had CoA postnatally. A significant linear relationship was identified between ventricular discrepancy degree and FOF prominence (P<0.001, R=0.48). A significant linear relationship was also identified between the RFOF and disproportion of the great arteries (P<0.001, R=0.42). FOF prominence significantly differed between groups true positive and false positive (P<0.001). RFOF occurred significantly differently in the true positive and false positive groups (56.5% vs. 0.91%, P=0.002). Cardiac parameters, including the aortic valve (AO) z-score (P=0.785), aortic isthmus (AOi) z-score (P=0.944), pulmonary artery (PA) z-score (P=0.693), PA/AO ratios (P=0.055), left ventricle (LV) z-score (P=0.192) and right ventricle (RV)/LV ratios (P=0.225), were comparable between fetuses with and without CoA after birth except RV z-score (P=0.035). There is no statistical difference of cardiac parameters between fetuses with and without CoA after birth except RV diameter. The proportion of fetuses with RFOF is significantly greater in patients without CoA. Fetal echocardiography including bulging of the FOF in the LA should be investigated for suspected CoA to decrease false positive diagnosis of CoA.

Prenatal diagnosis of hepatic interruption of the inferior vena cava with azygos/hemiazygos continuation without structural heart defects: A case series.

To describe fetal spectrum and echocardiographic characteristics of interrupted inferior vena cava (IIVC) with azygos/hemiazygous continuation without other structural heart defects and to evaluate its association with visceral heterotaxy and isomerism, extracardiac and genetic anomalies, and to review neonatal outcome. This was a retrospective study of 14 fetuses with a confirmed diagnosis of IIVC with normal intracardiac anatomy. The following variables were collected; indication for referral, gestational age at diagnosis; associated isomerism and visceral heterotaxy, heart rhythm, genetic and extracardiac abnormalities, and fetal/neonatal outcome. Among 36 fetuses with IIVC, 14 cases (38.8%) had normal intracardiac anatomy. These IIVC cases correspond to 0.19% (14/7250) of all fetal cardiac examinations, and to 1.5% (14/922) of all cardiac abnormalities. Six patients had visceral abnormalities. Atrial appendage morphology was clearly depicted in three fetuses, both appendages were left. One fetus had bradyarrhythmia revealing atrial ectopic rhythm. Six fetuses did not have any concomitant cardiac or visceral abnormalities, therefore regarded as isolated. All babies were delivered at term with a good prognosis. Our study has shown that almost half of the IIVC cases without intracardiac structural anomalies displayed other findings of isomerism while the other half was isolated benign vascular variant. Therefore, prenatal diagnosis of IIVC should prompt a comprehensive evaluation for cardiac, situs, and visceral anomalies. The outcome is favorable.

320 cardiac MDCT angiography in preoperative assessment of TOF and its variants: Does it worth it?

BackgroundTetralogy of Fallot is the most common cyanotic congenital heart disease encountering a large spectrum of anatomical presentations with differing surgical approaches, and long-term outcomes ranging from ventricular septal defect with limited aortic overriding and mild pulmonary obstruction to a critical form of VSD and pulmonary atresia. TOF variants include PA/VSD, TOF/CAVC, TOF/DORV and TOF with absent pulmonary valve. Also, it may be accompanied with many associated intracardiac and extracardiac anomalies that may be of value when imaging and planning the surgical procedure.ResultsOur study included 22 cases of classic TOF, 18 with PA/VSD (12 were of type A, 5 were of type B and 1 was of type C), 3 with TOF/CAVC and 7 TOF/DORV. Sub-valvular RVOTO was detected in 94% of patients. A statistically significant difference was depicted between Echocardiography and MDCT in detecting supravalvular RVOTO, however no statistically significant difference was found in sub-valvular and valvular RVOTO detection. MDCT could efficiently characterize pulmonary arterial tree with statistically significant difference between both Echocardiography and MDCT in assessment of main, right and left pulmonary arteries with P value = 0.036,0.014 and 0.023 respectively. With calculation of Mc-Goon ratio in all patients, it was favorable (> 1.2) in 33 patients (66%). MDCT entailed 19 patients with PDA versus 15 depicted by Echocardiography and 25 MAPCAs per 11patients compared 8 MAPCAs per 7 patients detected by Echocardiography. Right sided aortic arch was found in 10 patients and 24 patients showed abnormal branching pattern. Coronary artery abnormalities were identified in eight patients. MDCT showed 100% sensitivity and 100% specificity in depicting aortic, coronary and other associated extracardiac vascular anomalies.ConclusionMDCT offers comprehensive anatomical assessment of TOF, and its variants providing superiority over echocardiography and comparable results to cardiac catherization with 100% sensitivity and specificity in evaluation of associated extracardiac vascular anomalies as well as pulmonary arteries characterization. It is worth using MDCT routinely in combination with echocardiography for the preoperative assessment of TOF and its variants representing a less invasive option than conventional catherization with lower radiation exposure.

Juxtaposition of the Atrial Appendages: A Large Echocardiographic Series

Juxtaposition of the atrial appendages is known to occur in specific congenital heart lesions. Recognition of these variants is critical in balloon atrial septostomy and atrial switch operations. There remains little clinical data on the prevalence and associations of these lesions. This is the largest echocardiographic study of juxtaposition of the atrial appendages. This is a retrospective study using the Mt. Sinai echocardiogram database (EchoLAN), which contains echocardiogram reports performed or reviewed at Mt. Sinai Hospital (New York, NY) between 1992 and 2019. Each report was reviewed for associated intracardiac and extracardiac anomalies and the prevalence of juxtaposed atrial appendage among specific diagnosis, including tricuspid atresia, transposition of the great arteries, and double outlet right ventricle, was calculated. Descriptive and analytical statistics were performed as applicable, including Fisher's exact test, with p value < 0.05 considered statistically significant. Forty-nine patients had juxtaposed atrial appendages (1.2/1000 patients): Thirty-eight had LJRAA (0.9 per 1000 patients) and eleven had RJLAA (0.3 per 1000 patients). LJRAA was seen in 22% of tricuspid atresia, 6% of d-TGA, 1% of l-TGA, and 5% of DORV. RJLAA was seen in 2% of DORV, and none of the other lesions. Of associated lesions, dextrocardia, mesocardia, transposition, tricuspid atresia, double inlet left ventricle, and pulmonary valve stenosis were more likely to be present in LJRAA, while bicuspid aortic valve and left ventricular hypoplasia were more likely to be present in RJLAA. This study reaffirms our understanding of juxtaposition of the atrial appendages, its prevalence, and clinical importance.

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.