Ebstein's Anomaly Research Articles

Background: Ebstein’s anomaly (EA) is a rare congenital heart defect characterized by apical displacement and abnormal development of the tricuspid valve, resulting in right atrial enlargement and a predisposition to atrial arrhythmias. Typical atrial flutter (AFL), frequently involving the cavo-tricuspid isthmus (CTI), affects up to 21% of individuals with EA. While CTI ablation is the standard of care for typical AFL, it is technically challenging in EA due to complex and distorted right heart anatomy. Objective: To evaluate the current literature on the procedural success, safety, and long-term outcomes of CTI ablation in patients with uncorrected Ebstein’s anomaly. Methods: A scoping review was conducted per PRISMA-ScR guidelines. We systematically searched PubMed, EMBASE, and Scopus using terms such as “Ebstein anomaly,” “atrial flutter,” and “cavo-tricuspid isthmus ablation.” Studies reporting on CTI ablation in patients with uncorrected EA were included. Data on procedural characteristics, success rates, complications, arrhythmia recurrence, and use of adjunctive ablation were extracted and synthesized. Results: Twelve studies encompassing 351 patients with EA undergoing radiofrequency catheter ablation for atrial arrhythmias were included. A total of 234 arrhythmias were targeted across 263 ablation procedures. Immediate post-procedural success—defined as arrhythmia termination following the first ablation—was reported in 158 of 214 patients (73.8%). Long-term success—defined as sustained arrhythmia-free survival after all ablation procedures—was achieved in 142 of 206 patients (63.9%). Detailed outcomes per study are summarized in Tables 1&2. Conclusion: CTI ablation in uncorrected EA is both feasible and effective, despite anatomical challenges such as tricuspid valve displacement, right atrial enlargement, and atrialized right ventricular tissue. Acute success rates are high (73–94%), and recurrence of typical AFL is relatively low (~6.3%). However, long-term follow-up reveals a high incidence (25–50%) of new-onset atrial fibrillation. Intracardiac echocardiography enhances procedural precision and safety. While adjunctive pulmonary vein isolation (PVI) may help mitigate AF development, it is not routinely performed. Individualized ablation strategies informed by detailed anatomical assessment are critical to optimizing patient outcomes in this complex population.

Background: Quantum computing (QC) has emerged as an innovative technology to enhance machine learning through quantum mechanical properties such as superposition, entanglement, and projection into high-dimensional complex Hilbert spaces. These properties can improve the representational capacity and generalization of deep learning models. We explore the feasibility and efficacy of integrating quantum technology into convolutional neural networks (CNN) for echocardiographic analysis of real world data covering the spectum of congenital heart disease (CHD). Methods: We developed a hybrid deep learning algorithm incorporating a quantum computing (QC) layer within a ResNet-50 convolutional neural network. The QC layer included 4 qubits, with angle embedding and strongly entangling layers for quantum processing. Two supervised classification tasks were evaluated: (1) diagnosis classification and (2) echocardiographic view classification using a challenging dataset of echocardiographic images from patients with congenital and structural heart disease. The model was benchmarked against a conventional state-of-the art CNN model. Training/inference were conducted on high-performance classical GPUs and the QC layer were simulated and applied directly to an IBM 127-qubit Eagle r3 quantum processor (Sherbrooke, Canada). Results: Models were trained and tested on echocardiographic data derived from 262 patients and 62 controls. Diagnoses included tetralogy of Fallot (n=30), TGA (n=48), Ebstein anomaly (n=18), and other CHD/structural anomalies. A total of 9,793 loops including 284,250 frames were used for training and testing.The hybrid QC-model demonstrated superior performance in both tasks relative to the classical baseline, with improvements in accuracy, F1-score, precision, and recall. Per-class metrics showed enhanced differentiation in diagnostically challenging categories (Test accuracy 72.1% vs. 68.4% for diagnosis and 78.9 vs. 76.6% for view classification for QC vs. conventional CNN, respectively). Conclusion: This study is first to establish the applicability of quantum-computing deep learning in the field of congenital cardiology. The enhanced ability of quantum layers to map complex image data into higher-dimensional spaces offers promising advantages for AI applications, particularly in populations with high anatomic variability such as CHD.The findings pave the way for future quantum applications in precision medicine specifically benefiting CHD.

To evaluate long-term survival and freedom from reoperation following one-and-a-half (1.5VR) and biventricular repair (BVR) in older children and adults with Ebstein anomaly (EA), and to identify predictors of postoperative right ventricular (RV) dysfunction and mortality. We retrospectively reviewed EA patients who underwent surgery at the National Heart Institute between 2005 and 2023. Clinical, imaging, and surgical data were analysed. Survival and reoperation rates were assessed with Kaplan-Meier method, while logistic and Cox regression were applied to identify predictors of RV dysfunction and mortality. Among 126 EA patients [median age: 19 years (IQR: 11, 33.2)], 98(77.8%) underwent BVR and 28(22.2%) underwent 1.5VR. Compared with the BVR group, 1.5VR patients were younger [9.5 vs. 15.6 years, p = 0.03], had lower oxygen saturation, more severe Carpentier types (C/D), and poorer RV function [FAC 25.4% vs. 32.6%, p = 0.01; TAPSE 13.3 vs. 17.5 mm, p = 0.006]. Overall mortality was 6.3%. Ten-year survival rates were 93.5% for BVR and 87% for 1.5VR, while freedom from reoperation rates were 78% and 94.5%, respectively (p > 0.05). Twelve patients (12.2%) initially intended for BVR required conversion to 1.5VR due to RV failure, with 2(16.7%) cases of mortality. Independent predictors were: lower preoperative oxygen saturation for postoperative RV dysfunction (OR 0.92, 95% CI 0.85-0.99, p = 0.04); and NYHA class IV (HR 28.9, p = 0.035), prior ablation (HR 6.5, p = 0.02), and cardiothoracic ratio >70% (HR 16.8, p = 0.004) for mortality. In older children and adults with EA, 1.5VR provided long-term survival comparable to BVR, with a trend toward fewer reoperations. Low oxygen saturation, advanced NYHA class, prior ablation, and severe cardiomegaly independently predicted adverse outcomes, highlighting the need for careful preoperative assessment to guide surgical strategy.

This study was conducted to investigate the diagnostic characteristics of uncommon manifestation of Ebstein Anomaly (EA) during the fetal period, to improve the accuracy of prenatal diagnosis. This retrospective analysis was conducted with data from fetuses diagnosed with an uncommon manifestation of EA between January 2020 and October 2024. Maternal and fetal information, prenatal ultrasound data, and information on pregnancy termination/delivery and postnatal surgical treatment were collected. The sample comprised 13 with isolated posterior leaflet displacement and 1 with all tricuspid valve leaflets displaced. Four children (two with additional displacement of the septal leaflet detected by postnatal ultrasound) survived. The ultrasound features of isolated posterior leaflet displacement were: (1) normal positioning of the septal and anterior leaflets and significant tricuspid regurgitation with a low starting point of the regurgitant jet on four-chamber view, (2) non-parallel orientation of the line connecting the posterior and anterior leaflet attachment points to that connecting the superior and inferior vena cava on bicaval view, and (3) common association with pulmonary artery stenosis or atresia. Characteristics of the displacement of all leaflets were: (1) downward displacement of all valve leaflets with disruption of the continuity between the septal leaflet and coronary sinus wall, and (2) location of the displaced tricuspid valve orifice at or below the mid-left ventricular level, preventing visualization of the mitral valve, on low short-axis view. The ultrasonic characteristics summarized here enable the accurate prenatal diagnosis of uncommon manifestation of EA. Isolated posterior leaflet displacement may evolve with other morphological anomalies, necessitating regular monitoring.

Shifting Paradigms: Exercise Testing as a Metric of Long-Term Success in Surgery for Ebstein Anomaly.

Surgical trends and outcomes of neonatal Ebstein's anomaly: Multi-institutional study.

Coexistence of Ebstein Anomaly and Neonatal Dubin-Johnson Syndrome with Rare ABCC2 Double Heterozygous Mutations: A Case Report

Severe tricuspid regurgitation (TR) can lead to significant enlargement of the right atrium (RA) and poses unique clinical challenges. We report this case of a 17-year-old boy previously misdiagnosed with Ebstein anomaly who presented with dyspnea and palpitations. Initial examination revealed irregular heart rhythm, distended neck veins, and a significant murmur. Echocardiogram and computed tomography showed severe TR due to noncoaptation of the tricuspid valve, causing massive RA enlargement (1916 mL). The patient underwent successful surgical intervention, including tricuspid valve replacement and RA reduction. Postoperative complications included atrial fibrillation, which was medically managed. To our knowledge, this case had the largest RA to be reported and surgically treated in the literature. The case underscores the diagnostic challenges in differentiating severe TR from Ebstein anomaly and the progression from TR to significant RA enlargement. Accurate diagnosis and timely surgical management are critical in such cases to achieve favorable outcomes.

Introduction: Down syndrome is the most common genetic cause of multiple congenital malformations and intellectual disability. The prevalence of the disorder and accompanying malformations, prenatal and postnatal features, and clinical approach to the syndrome vary across different regions worldwide. This study aims to share our clinic’s experience with Down syndrome from pregnancy through childhood from a medical geneticist’s perspective and to summarize the prenatal and postnatal characteristics of our patients. Methods: A 10-year review of medical records was conducted for patients with Down syndrome who were followed between 2010 and 2021. Patient data including sex, karyotype, follow-up period, age at first and last visit, congenital malformations, organic disorders, prenatal screening data, neonatal history, neuromotor developmental milestones, and growth parameters were evaluated. Results: Overall, 324 children with Down syndrome were evaluated. Overall, 95% (308) had regular trisomy 21. The mean age at admission was 6.09 ± 1.99 months, and patients were followed for an average of 32.7 ± 3.97 months. Overall, 51% of neonates and 53.5% overall were hospitalized. While common disorders such as congenital heart defects (57.5%), neonatal hyperbilirubinemia (19.7%), and hypothyroidism (39%) were observed, rare conditions such as polydactyly, Ebstein anomaly, epilepsy, epileptic encephalopathy, nephrolithiasis, and cholelithiasis were also reported. Conclusion: The clinical features of Down syndrome observed in Türkiye have been summarized through our cohort. Medical teams need comprehensive knowledge about Down syndrome management. Childhood is recognized as a critical period in Down syndrome care, particularly regarding early diagnosis and treatment of congenital malformations and management of developmental delays.

Atriofascicular pathway in Ebstein's anomaly: Revisiting the role of preoperative EP studies in pediatrics.

Outcomes of single ventricle heart defects may be influenced by the morphological type of the hypoplastic ventricle. Recent multi-centre studies have targeted on outcomes of hypoplastic left heart syndrome with limited focus on outcomes of hypoplastic right heart syndrome. We aimed at studying the clinical outcomes of hypoplastic right heart syndrome in the recent era. We performed a retrospective analysis of all hypoplastic right heart syndrome patients (n = 153) born between January 2010 and January 2023. Five-year transplant-free survival was compared with hypoplastic left heart syndrome patients without heterotaxy (n = 144) born during the same time. Double-inlet left ventricle was the most common anatomic hypoplastic right heart syndrome subtype (n = 39, 25%). Twenty-six (17%) patients with hypoplastic right heart had associated heterotaxy. Five-year transplant-free survival was high for most groups (double inlet left ventricle: 100%, pulmonary atresia: 94%, Ebstein's anomaly: 92%, tricuspid atresia: 90% respectively). The heterotaxy group had worse early outcomes with 3 deaths and 3 heart transplants, before Fontan completion. Heterotaxy was a significant risk factor for death/transplant prior to Fontan completion in hypoplastic right heart syndrome patients (p = 0.03). Patients with hypoplastic right heart syndrome with heterotaxy had significantly worse 5-year transplant-free survival (71%) when compared to hypoplastic right heart syndrome without heterotaxy (95%) and hypoplastic left heart syndrome without heterotaxy (75%), p < 0.001. Hypoplastic right heart syndrome patients have excellent clinical outcomes and better early childhood survival than hypoplastic left heart syndrome in the current era, except when associated with heterotaxy. The survival advantage conferred by a single left ventricle appears to be negated by heterotaxy syndrome and should be strongly considered during caregiver counselling and medical decision-making.

Abstract Background Carcinoid heart disease (CHD) caused by neuroendocrine tumors (NET) is associated with increased morbidity and mortality due to valvular dysfunction and right-sided heart failure. This study aims to assess the prevalence and one-year incidence of CHD in NET patients. Tumor characteristics, laboratory measurements, and echocardiographic findings were examined to identify predictors of CHD development. Methods The study was an investigator-initiated, monocentric, prospective trial. Patients with gastroenterological NET without previously diagnosed CHD were included and underwent oncological and cardiological diagnostics. Transthoracic echocardiography (TTE) and blood test were performed at baseline. Results Thirty-nine NET patients (mean age 67 ± 11 years) were enrolled into the study and received TTE. A total of four patients exhibited signs of CHD (mean age 69 ± 8.8 years). Four patients showed classical right sided carcinoid heart disease with high-grade tricuspid regurgitation. Two of these patients also exhibited mild to moderate right ventricular dysfunction. One NET patient exhibited aortic stenosis and another had a history of an Ebstein Anomaly. In such cases, the differentiation between preexisting or concomitant valvular disease and its interaction with NET and carcinoid heart disease is difficult. NT-proBNP was significantly elevated in CHD patients compared to NET patients without CHD (810.25 pg/mL ± 651.7 vs. 175.15 pg/mL ± 149.3, p = 0.02) as was 5-Hydroxyindoleacetic acid (5-HIAA) in 24h urine (67 mg ± 26 vs. 11 mg ± 8, p &amp;lt; 0.01) and Troponin T (21 ng/L ± 5 vs. 10.6 ng/L ± 4, p &amp;lt; 0.01). Chromogranin A showed no significant difference (889.25 ng/mL ± 1040.93 vs. 584.54 ng/mL ± 1066.76, p = 0.64) between groups. Conclusion 10.26% (n = 4) of NET patients showed signs of CHD, all of which showed right-sided carcinoid heart disease. CHD patients exhibited significantly elevated cardiac biomarkers such as proBNP and Troponin T, as well as increased 5-HIAA in 24h urine. The comparatively mild severity of CHD in our patient collective might be due to improvements in the pharmacological treatment of NETs. One CHD patient underwent TriClip implantation with a good result, highlighting the possibility of interventional treatment in these patients.TTE and TEE in CHD Boxplots CHD

Congenital heart diseases associated with Ebstein's anomaly: relating to two cases with abnormal connection of pulmonary veins

BackgroundEbstein's anomaly and tricuspid valve dysplasia are associated with perinatal mortality approaching 50% and are among the most difficult fetal conditions to manage. Prediction of perinatal mortality is difficult and remains an active area of research. The usefulness of electrophysiologic indicators has not been investigated.MethodsEighteen fetuses with a diagnosis of Ebstein's anomaly and tricuspid valve dysplasia were referred for fetal magnetocardiography evaluation. We assessed fetal rhythm, waveform intervals, and heart rate variability and reactivity.ResultsTwo subjects were lost to follow‐up and 1 remains in utero. Of the other 15, 6 (40%) did not survive: 5 died within the first month of life, and 1 died at 4 months following surgery. Compared with normal fetuses, the Ebstein's anomaly and tricuspid valve dysplasia group exhibited significantly prolonged P‐wave duration (P <0.01), PR interval (P <0.03), and QRS duration (P <0.01), along with an increased P/QRS amplitude ratio (P <0.01). The most prominent fetal magnetocardiography abnormalities included tall, broad P‐waves suggestive of atrial enlargement and markedly prolonged QRS complexes consistent with bundle branch block. Of the 6 nonsurvivors, 4 had QRS durations ≥90 milliseconds (Z >4), and 4 demonstrated impaired atrioventricular conduction, including PR prolongation and second‐degree atrioventricular block. Additionally, 4 showed absent heart rate variability and minimal reactivity. Abnormal findings were more prevalent in the third trimester than earlier in gestation.ConclusionsEbstein's anomaly and tricuspid valve dysplasia manifests distinct conduction and rhythm abnormalities detectable by fetal magnetocardiography but not by echocardiography. These electrophysiologic markers were associated with perinatal mortality and may serve as useful prognostic indicators.RegistrationURL: https://www.clinicaltrials.gov; Unique identifier: NCT03047161.

The prognosis of neonatal Ebstein's anomaly requiring early surgery is poor, especially with a circular shunt. We report a critically ill case managed with emergency two-stage Starnes surgery immediately after birth. We hypothesised that the three components of the Starnes procedure, right ventricle exclusion, atrial septal defect creation, and systemic-to-pulmonary shunt, could be organised and reconstructed in a consecutive two-stage strategy to control postoperative circulatory fluctuations.

The Da Silva Cone procedure for Ebstein anomaly has dramatically improved tricuspid valve competence and clinical outcomes. However, preoperative left ventricular (LV) dysfunction and immediate postoperative right ventricular (RV) systolic dysfunction are frequently observed. While excellent valve outcomes are well established, recovery of biventricular function following the Cone remains less defined. This study aimed to evaluate longitudinal changes in RV and LV function postoperatively and over a minimum of six months post-Cone operation. A single center retrospective review of 134 patients who underwent Cone repair for Ebstein's anomaly from 2016 to 2024 was performed. Echocardiograms were analyzed at three time points: preoperative (Time 1), hospital discharge (Time 2), and ≥6 months postoperative (Time 3). RV parameters included fractional area change (FAC), tricuspid annular plane systolic excursion (TAPSE), and tricuspid S'. LV parameters included left ventricular ejection fraction (LVEF), end-diastolic volume indexed to body surface area (LVEDVi), left ventricular stroke volume (LVSVi), and mitral E/E'. Subgroup analyses examined outcomes by prior Glenn, Starnes procedure, and degree of RV dilation. Paired two sample t-tests were used to compare serial measures. Median age at surgery was 7.8 years (IQR: 2.3-17.7). All patients had discharge echocardiograms; 70 had follow-up studies at ≥6 months. RV function declined postoperatively with reductions in FAC (35% to 21%), TAPSE (2.0 to 0.8 cm), and S' (13 to 5 cm/s), all p < 0.001. By Time 3, these measures improved (FAC to 29%, TAPSE to 1.3 cm, S' to 7 cm/s) but did not fully return to baseline. LVEDVi and LVSVi increased significantly by Time 3 (LVEDVi: 47 to 54 mL/m2; LVSVi: 30 to 34 mL/m2; p < 0.001), while LVEF remained unchanged. Patients with prior Glenn or Starnes had greater Time 1 LV volumes and lower RV function, but by Time 3, most differences resolved. Moderate-severe preoperative RV dilation was associated with worse RV function at Time 2 and normalized by Time 3. The Da Silva Cone procedure leads to early postoperative RV dysfunction with partial recovery over the mid-term follow-up. Concurrently, LV filling and stroke volume improve, reflecting favorable interventricular interaction. These findings support echocardiographic surveillance to guide functional recovery post-Cone and inform patient counseling.

Background: Cardiac myxomas are the most frequent primary heart tumors. Their presence in right heart chambers is uncommon, and their association with Ebstein’s anomaly is extremely rare. Case presentation: A 24-year-old man with a history of Ebstein-Carpentier type B anomaly, recurrent arrhythmias, and various device-related complications was diagnosed with an intracardiac mass consistent with a right ventricular myxoma during echocardiographic evaluation. Surgical resection was recommended, but the patient declined due to the surgical risk and opted for conservative treatment. Discussion: The coexistence of Ebstein's anomaly and right ventricular myxoma is poorly documented. Detection of intracardiac masses in these patients can significantly influence therapeutic decisions. Conclusions: Structural surveillance in patients with congenital heart disease such as Ebstein’s anomaly is essential to detect coexisting intracardiac tumors.

The American Association for Thoracic Surgery (AATS) 2025 Expert Consensus Document: Management of Ebstein anomaly in children and adults.

Indomethacin-Induced Ductus Arteriosus Closure and Aortopulmonary Collateral Formation in Fetal Ebstein Anomaly With Circular Shunt

"Severe RV dilatation and dysfunction in Ebstein anomaly: insights from multimodality imaging."