Ebstein's anomaly with coarctation of the aorta and a bicuspid aortic valve: a case report of a rare association with unique prenatal findings.

Ebstein's anomaly is rarely accompanied by coarctation of the aorta, although patients with Ebstein's anomaly have a relatively small left ventricle. Here, we report a rare case of Ebstein's anomaly with coarctation of the aorta and a bicuspid aortic valve. We compared the foetal echocardiographic parameters of five previous cases with Ebstein's anomaly without left heart obstruction to explore the association between left ventricular volume, Ebstein's anomaly severity, and left heart obstruction.

Ebstein Anomaly Successfully Treated With Levosimendan Postoperatively in a 60-Year-Old Female: A Case Report.

Ebstein anomaly is a congenital heart disease that is considered rare and mostly found in pediatrics population. Symptoms in adults vary depending on the degree of the valve displacement and include difficulty breathing, palpitations, stroke, or even fatigue. However, if it occurs in the elderly, they end up with a good prognosis. A novel calcium sensitizer "levosimendan" has been used perioperatively in heart valve replacement to improve the long-term prognosis of patients. The use of the drug has been shown to reduce postoperative mortality in patients with reduction in ejection fraction. We present the case of a 62-year-old female, a known case of hypothyroidism, bronchial asthma, gastroesophageal reflux disease, and recent diagnosis of Ebstein anomaly, who underwent tricuspid valve repair and atrial septal defect repair on being symptomatic, in addition to the successful use of a novel positive inotropic drug with decrease in the intensive care unit stay.

Pharmacological resynchronisation with flecainide in an infant with Ebstein anomaly and Wolff-Parkinson-White pattern: a case report.

Background: Conduction abnormalities are frequently encountered in patients with Ebstein anomaly. The following case describes the safe use of flecainide in an infant with accessory-pathway mediated left ventricular dysfunction in the setting of Ebstein anomaly. Case Summary: An infant with an antenatal diagnosis of Ebstein anomaly developed progressive left ventricular dilatation and dysfunction over the first 2 months of life. ECG demonstrated persistent Wolff-Parkinson-White pattern with delta-wave polarity suggesting a right-sided septal accessory pathway. In the absence of SVT, accessory-pathway mediated dyssynchrony was suspected as the cause for left ventricular dilatation and dysfunction. He was commenced on flecainide which successfully blocked antegrade conduction via the accessory pathway resulting in a reduction in left ventricular volume and improvement in left ventricular systolic function. He remains asymptomatic at 12 months of age. Discussion: There is a known association between Ebstein anomaly and Wolff-Parkinson-White pattern. Right-sided septal accessory pathways can cause cardiomyopathy secondary to dyssynchronous left ventricular contraction. In patients who are unsuitable for accessory pathway ablation, flecainide can be used to block antegrade conduction via the accessory pathway resulting in improved left ventricular function, which was successful on this occasion.

A case report of Ebstein's anomaly-Gerbode defect dyad: is there room for another anomaly in the same patient?

Background: Ebstein's anomaly is a rare congenital heart disease characterized by apical displacement of the septal and posterior tricuspid valve leaflets. It is commonly associated with other defects such as patent foramen ovale or accessory atrioventricular pathways. Case summary: We describe a case of an Ebstein anomaly diagnosed in an adult in his 50s in association with a septal defect between the left ventricle and right atrium (Gerbode defect). The diagnosis was confirmed on magnetic resonance imaging. A third anomaly was noted on coronary angiography, consisting of an aberrant origin of the right coronary artery from the left sinus of Valsalva. The patient was paucisymptomatic until he developed typical atrial flutter. Catheter ablation was employed after first arrhythmia recurrence and the patient is to date in good clinical condition. Conclusion: The association of Ebstein's anomaly-Gerbode defect is extremely rare, and to our knowledge, this is the first case that presents in addition an anomalous coronary artery. Both structural defects were without haemodynamic significance, and there was no proof of myocardial ischaemia. As the case illustrates, congenital disorders, even when in conjunction, can have a silent clinical course and multimodality imaging is sometimes necessary for a complete and final diagnosis.

Preoperative right ventricular longitudinal strain as a prognosticator of postoperative residual or recurrent tricuspid regurgitation in Ebstein anomaly: a cardiovascular magnetic resonance study.

Background: The preoperative predictors of residual or recurrent tricuspid regurgitation (TR) after cone reconstruction (CR) remains unclear in patients with Ebstein anomaly (EA). We aimed to determine the predictive value of right ventricular longitudinal strain, assessed using cardiac magnetic resonance (CMR) imaging, for residual or recurrent TR after CR in patients with EA. Methods: This single-centre, retrospective study analysed data from 48 patients with EA [mean ± standard deviation (SD), age, 35.0±13.6 years; 13 males] who underwent CMR before CR between January 2017 and February 2023. Two-dimensional colour Doppler echocardiography was performed before CR and mid-term (>6 months) after CR to evaluate the degree of TR in patients with EA. Thirty healthy volunteers served as controls. Univariate and multivariate logistic regression analyses were performed to identify CMR predictors of moderate or severe TR >6 months after CR. Results: Mid-term postoperative results revealed severe, moderate, and mild TR in 8 (17%), 7 (15%), and 33 (69%) patients, respectively. For patients with EA and moderate or severe TR after CR, left ventricular global longitudinal strain (GLS), left ventricular ejection fraction, right ventricular global longitudinal strain (RVGLS), and right ventricular ejection fraction (RVEF) were significantly worse compared to patients with mild TR (all P<0.05). Multivariate logistic regression analyses revealed that RVGLS was independently associated with moderate or severe TR >6 months after CR [odds ratio (OR) 1.193, 95% confidence interval (CI): 1.025-1.388; P=0.02]. Conclusions: RVGLS was a significant predictor of moderate or severe TR >6 months after CR. This finding emphasizes that early and accurate measurement of RV function may help to identify patients at high risk for severe residual or recurrent TR.

Ebstein's Anomaly in a Young Nigerian Lady.

BACKGROUND: Ebstein's anomaly (EA) is a rare congenital heart disease with a wide spectrum of presentation from the womb to adulthood characterized by apical displacement of tricuspid valve leaflets into the right ventricle. This is due to defects in embryological processes of uncertain etiology. CASE SUMMARY: A 28-year-old woman who presented with palpitations from childhood occurring in short paroxysms daily and limiting her from strenuous activities. Physical examination findings revealed a small stature with no associated birth defects. The cardiovascular system revealed tachycardia, a small volume irregular pulse with a split S2 heart sound. ECG showed premature atrial complexes, fragmented QRS with Sodi-Pallares sign, and echocardiographic features in keeping with atrialization of right ventricle with apical displacement of septal leaflet of the tricuspid valve into the right ventricle in keeping with EA. The patient was placed on anti-arrhythmics and anticoagulants. CONCLUSION: The diagnosis of EA in adults is often delayed in low-resource settings for multifaceted reasons. However, medical therapy offers a conservative measure to preserve life while surgical correction is advocated for the majority of cases when picked up early.

CONTEXTE: L'anomalie d'Ebstein (AE) est une cardiopathie congénitale rare caractérisée par le déplacement apical des feuillets de la valve tricuspide dans le ventricule droit. Cette affection se manifeste par un large éventail de symptômes, de la vie fœtale à l'âge adulte, et serait due à des défauts dans les processus embryologiques, bien que son étiologie exacte reste incertaine. RÉSUMÉ DU CAS: Une femme de 28 ans s'est présentée avec des palpitations depuis l'enfance, se produisant en courtes paroxysmes quotidiens et la limitant dans les activités physiques intenses. L'examen physique a révélé une petite stature sans malformations associées. L'évaluation cardiovasculaire a indiqué une tachycardie, un pouls irrégulier de faible volume et un dédoublement du deuxième bruit du cœur (B2). Un ECG a montré des complexes atriaux prématurés, des complexes QRS fragmentés avec un signe de SodiPallares, et des résultats échocardiographiques cohérents avec une atrialisation du ventricule droit et un déplacement apical du feuillet septal de la valve tricuspide, confirmant un diagnostic d'AE. La patiente a été prise en charge avec des antiarythmiques et des anticoagulants. CONCLUSION: Dans les milieux à faibles ressources, le diagnostic de l'AE chez l'adulte est souvent retardé en raison de divers défis. Bien que la prise en charge médicale offre une approche conservatrice pour prolonger la vie, une intervention chirurgicale précoce est recommandée dans la plupart des cas pour obtenir de meilleurs résultats. MOTS-CLÉS: Anomalie d'Ebstein, Rapport de cas, Revue de la littérature.

Correlation between Epsilon Wave and Late Potentials in Arrhythmogenic Right Ventricular Cardiomyopathy-Do Late Potentials Define the Epsilon Wave?

Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetic disorder characterised by progressive fibrosis predominantly of the right ventricular (RV) myocardium, resulting in life-threatening arrhythmias and heart failure. The diagnosis is challenging due to a wide spectrum of clinical symptoms. The important role of ECG was covered in the current diagnostic criteria. The role of the epsilon wave (EW) is still under discussion. Aim: The aim of the study was to examine a potential association between the EW and late ventricular potentials (LPs) in ARVC patients (pts). The correlation between RV dilatation or dysfunction and LPs/EW was also analysed. Methods: The ARVC group consisted of 81 pts (53 men, aged 20-78 years) fulfilling 2010 International Task Force Criteria. 12-lead ECG, LPs, Holter, and ECHO were performed in all pts. The presence of EW was analysed in ECG by 3 investigators. LPs were detected by signal-averaged ECG (SAECG). SAECG was considered positive for LPs when at least two of the three following criteria were met: (1) the filtered QRS duration (fQRS) ≥ 114 msec; (2) the duration of the final QRS fragment in which low-amplitude signals lower than 40 µV are recorded (LAS-40 > 38 msec); and (3) the root mean square amplitude of the last 40 milliseconds of the fQRS complex (RMS-40 < 20 µV). The results were compared with a reference group consisting of 53 patients with RV damage in the course of atrial septum defect (ASD) or Ebstein's Anomaly (EA). Results: In the ARVC group, a significant relationship was observed between the occurrence of EW and the presence of LPs. EW was more common in the LP+ than in the LP- patients (48.1% vs. 6.9%, p < 0001; OR 12.5; 95% CI [2.691-58.063]). In ARVC pts, RVOT > 36 mm, RVIT > 41 mm, and RV S' < 9 cm/s were observed significantly more often in the LPs+ than in the LPs- group (OR [95% CI]: 8.3 [2.9-1.5], 6.4 [2.2-19.0] and 3.6 [1.1-12.2], respectively). In the ARVC group, any of fQRS > 114 ms, LAS > 38 ms, and RMS < 20 µV were significantly more frequent in EW+ pts. In multivariate analysis, the independent factors of the EW were LAS-40 and RV S'. In the LPs- subgroup, RVOT > 36 mm was more frequent in ASD/EA than in ARVC (70.4% vs. 25%, p = 0.002). Similarly, in the LPs- subgroup, RVIT > 41 mm was encountered more frequently in ASD/EA than in ARVC (85.2% vs. 48.3%, p = 0.004). Conclusions: In ARVC, there is an association between EW and LPs, with both probably resulting from the same process of fibrofatty substitution of the RV myocardium. Although RV dilatation is common in ASD and EA, it does not correlate with LPs.

The cone repair allows right ventricle rehabilitation with excellent tricuspid valve function following the Starnes procedure.

BACKGROUND: We present a case series of right ventricle (RV) rehabilitation after the Starnes procedure in patients with Ebstein anomaly (EA), applying the Cone repair of the tricuspid valve (TV) to achieve 2-ventricle or 1.5-ventricle physiology. METHODS: This is a retrospective database analysis from 2 institutions in North America. We included all consecutive cases of Cone repair after the Starnes procedure. The data are expressed as median and interquartile range (IQR). RESULTS: Eleven patients underwent RV rehabilitation between 2019 and 2023 after initial Starnes palliation at a median age of 27 months (IQR, 20.5 months). All patients were critically ill before their Starnes procedure, and 4 were on extracorporeal membrane oxygenation. Before the Cone repair, the median preoperative regurgitant velocity at the Starnes patch was 1.65 m/s (IQR, 1.3 m/s). During the Cone procedure, 9 patients required a concomitant pulmonary valve repair, of whom 3 needed a transannular monocusp patch. Four patients were successfully rerouted to a 2-ventricle repair, and 7 patients with a previous Glenn achieved 1.5-ventricle circulation. There were no cases of heart block and no deaths. Seven patients had trivial, 3 patients had mild, and 1 patient had moderate tricuspid regurgitation (TR) at a median follow-up of 11 months (IQR, 21.5 months). There was no significant TV stenosis; all patients had good functional status at the last follow-up despite severe RV dysfunction in 1 patient. CONCLUSIONS: After the Starnes procedure, the Cone repair allowed RV rehabilitation, resulting in trivial or mild TR at a midterm follow-up. The Starnes procedure is a reproducible technique that no longer commits patients to lifetime single-ventricle physiology.

A predictable electrocardiogram.

An electrocardiogram of an uncommon congenital heart disease is presented to highlight the unique findings in diagnosis with its clinical implications and predictive value.

Predictors of length of hospital stay after pediatric Ebstein anomaly corrective surgery: a retrospective cohort study.

BACKGROUND: The remarkable advancements in surgical techniques over recent years have shifted the clinical focus from merely reducing mortality to enhancing the quality of postoperative recovery. The duration of a patient's hospital stay serves as a crucial indicator in evaluating postoperative recovery and surgical outcomes. This study aims to identify predictors of the length of hospital stay for children who have undergone corrective surgery for Ebstein Anomaly (EA). METHODS: We conducted a retrospective cohort study on children (under 18 years of age) diagnosed with EA who were admitted for corrective surgery between January 2009 and November 2021 at Fuwai Hospital. The primary outcome was the Time to Hospital Discharge (THD). Cox proportional hazard models were utilized to identify predictors of THD. In the context of time-to-event analysis, discharge was considered an event. In cases where death occurred before discharge, it was defined as an extended THD, input as 100 days (exceeding the longest observed THD), and considered as a non-event. RESULTS: A total of 270 children were included in this study, out of which three died in the hospital. Following the Cox proportional hazard analysis, six predictors of THD were identified. The hazard ratios and corresponding 95% confidence intervals were as follows: age, 1.030(1.005,1.055); C/R > 0.65, 0.507(0.364,0.707); Carpentier type C or D, 0.578(0.429,0.779); CPB time, 0.995(0.991,0.998); dexamethasone, 1.373(1.051,1.795); and transfusion, 0.680(0.529,0.875). The children were categorized into three groups based on the quartile of THD. Compared to children in the ≤ 6 days group, those in the ≥ 11 days group were associated with a higher incidence of adverse outcomes. Additionally, the duration of mechanical ventilation and ICU stay, as well as hospital costs, were significantly higher in this group. CONCLUSION: We identified six predictors of THD for children undergoing corrective surgery for EA. Clinicians can utilize these variables to optimize perioperative management strategies, reduce adverse complications, improve postoperative recovery, and reduce unnecessary medical expenses.

From ECG to Imaging: Challenges in the Diagnosis of Adult Congenital Heart Diseases.

Congenital heart diseases (CHD) are one of the most common birth defects and the main leading cause of death in children. Many patients with CHD are reaching adulthood due to the success of improved contemporary surgical procedures. Understanding the etiology of CHD remains important for patient clinical management. Both genetic and environmental factors are involved in the development and progression of CHD. Variations in many different genes and chromosomal anomalies can be associated with CHD, by expression of different mechanisms. Sporadic cases are the most frequently encountered in these patients. Atrial septal defect is a common congenital heart disease that refers to direct communication between atrial chambers, found isolated or associated with other syndromes. Imaging techniques, especially transthoracic and transesophageal echocardiography (TOE) represent the key for diagnosis and management of ASD. The disease has a major incidence in adulthood, due to late symptomatology, but assessment and treatment are important to avoid time-related complications. Ebstein's anomaly is a rare congenital disease, with a dominant genetic participation, characterized by an abnormal displacement of the tricuspid valve and right ventricular myopathy, often requiring surgical intervention. Alongside echocardiography, cardiac magnetic resonance (CMR) imaging is the gold standard tool for the assessment of ventricular volumes. Early diagnosis and adequate treatment are mandatory to avoid possible complications of CHD, and thus, ECG, as well as imaging techniques, are important diagnostic tools. However, patients with CHD need a special healthcare team for the entire monitorization in various life stages.

Obstetric Outcomes in Women on Lithium: A Systematic Review and Meta-Analysis.

Background/Objectives: Lithium taken during pregnancy was linked in the past with increased risk for foetal/newborn malformations, but clinicians believe that it is worse for newborn children not to treat the mothers' underlying psychiatric illness. We set to review the available evidence of adverse foetal outcomes in women who received lithium treatment for some time during their pregnancy. Methods: We searched four databases and a register to seek papers reporting neonatal outcomes of women who took lithium during their pregnancy by using the appropriate terms. We adopted the PRISMA statement and used Delphi rounds among all the authors to assess eligibility and the Cochrane Risk-of-Bias tool to evaluate the RoB of the included studies. Results: We found 28 eligible studies, 10 of which met the criteria for inclusion in the meta-analysis. The studies regarded 1402 newborn babies and 2595 women exposed to lithium. Overall, the systematic review found slightly increased adverse pregnancy outcomes for women taking lithium for both the first trimester only and any time during pregnancy, while the meta-analysis found increased odds for cardiac or other malformations, preterm birth, and a large size for gestational age with lithium at any time during pregnancy. Conclusions: Women with BD planning a pregnancy should consider discontinuing lithium when euthymic; lithium use during the first trimester and at any time during pregnancy increases the odds for some adverse pregnancy outcomes. Once the pregnancy has started, there is no reason for discontinuing lithium; close foetal monitoring and regular blood lithium levels may obviate some disadvantages of lithium administration during pregnancy.

Paradoxical generator impedance behavior during catheter ablation in a patient with severe polycythemia.

An extremely high generator impedance in the blood pool can be observed in a patient with severe polycythemia. However, ablation can be performed safely as long as the generator impedance during contact with the myocardial tissue is within acceptable limits.

Large Right Atrial Size on Cardiac MRI is Associated with Post-operative Right Ventricular Dysfunction After the Cone Operation for Ebstein Anomaly.

The cone operation has revolutionized care for patients with Ebstein anomaly; however, acute post-operative right ventricular dysfunction (RVD) is common in this patient population. A single-center, retrospective review of 28 patients with Ebstein anomaly who underwent cardiac MRI (CMR) prior to cone reconstruction of the tricuspid valve was conducted. Measurements of atrial and ventricular size/function were assessed. Post-operative RVD was defined as the presence of moderate or severe systolic dysfunction on discharge echo. A two-tail t test was employed to compare the two groups. The average age at operation was 21.4 years (range 1.6-57.8) and 14 (50%) had RVD at discharge. Patients with post-operative RVD had significantly larger pre-operative right atrial (RA) maximum volume (p = 0.016) and RA minimum volume (p = 0.030). Patients with RVD had smaller pre-operative left atrial (LA) minimum volume (p = 0.012). Larger pre-operative right ventricular (RV) end-systolic volume (p = 0.046), lower RV ejection fraction (0.029), and smaller left ventricular (LV) end-diastolic volume (p = 0.049) were significantly associated with post-operative RVD. Post-operative RVD was associated with longer milrinone duration (p = 0.009) and higher maximum milrinone dose (p = 0.005) but was not associated with intensive care or hospital length of stay (p = 0.19 and 0.67, respectively). Increased RA and RV dilation and decreased LA and LV volumes are associated with the development of post-operative RVD following cone operation for Ebstein anomaly. Post-operative RVD affects milrinone dose and duration but is not associated with increased length of stay.

Assessing Left Ventricular Pathology in Patients with Ebstein Anomaly Using Cardiovascular Magnetic Resonance: Looking Past the Right Heart.

Ebstein Anomaly (EA) is a malformation of the right heart, but there is data to suggest that the left ventricle (LV) can suffer from intrinsic structural and functional abnormalities which affect surgical outcomes. The LV in patients with EA is hypertrabeculated with abnormalities in LV function and strain. In this retrospective single-center study, patients with EA who underwent pre-operative cardiac MRI (CMR) between the periods of 2014-2024 were included along with a group of healthy-age-matched controls. Left ventricular and right ventricular volume, function and strain analyses were performed on standard SSFP imaging. LV noncompacted: compacted (NC/C) ratio and the displacement index of the tricuspid valve were measured. Forty-seven EA patients were included with mean age of 21.0 ± 17.6 years. Seventeen EA patients (36%) had mild pre-operative LV dysfunction on CMR and 1 (2.1%) had moderate LV dysfunction. Out of these 18 patients with LV dysfunction, only 2 were detected to have dysfunction on Echocardiogram. The global circumferential and longitudinal strain were significantly lower in the reduced LVEF group compared to those with preserved LVEF (- 14.8% vs. - 17%, p = 0.02 and - 11.9% vs. - 15.0%; p = 0.05; respectively) on CMR. A single EA patient met criteria for LVNC with a maximal NC/C ratio > 2.3. There was no statistically significant difference in NC/C ratio in the EA population (1.4 ± 0.6) vs. controls (1.1 ± 0.2), p = 0.17. There was an inverse correlation of LV ejection fraction with right ventricular end-diastolic volume and displacement index. All patients underwent the Da Silva Cone procedure at our center. Patients with preoperative LV dysfunction had longer duration of epinephrine use in the immediate postoperative period (33.7 ± 21.4 vs 10.2 ± 25.6 h, p = 0.02) and longer length of hospital stay (6.3 ± 3.2 vs 4.4 ± 1.2 days, p = 0.01). This is the largest study to date to evaluate preoperative LV structure and function in EA patients by CMR. In this cohort of 47 patients, preoperative LV dysfunction is fairly common and CMR has high sensitivity in detecting LV dysfunction as compared to Echo. True LV non-compaction was rare in this cohort. The presence of LV dysfunction is relevant to perioperative management and further study with larger cohorts and longer follow up are necessary.

Cardiac Transcription Factors and Regulatory Networks.

Cardiac development is a fine-tuned process governed by complex transcriptional networks, in which transcription factors (TFs) interact with other regulatory layers. In this chapter, we introduce the core cardiac TFs including Gata, Hand, Nkx2, Mef2, Srf, and Tbx. These factors regulate each other's expression and can also act in a combinatorial manner on their downstream targets. Their disruption leads to various cardiac phenotypes in mice, and mutations in humans have been associated with congenital heart defects. In the second part of the chapter, we discuss different levels of regulation including cis-regulatory elements, chromatin structure, and microRNAs, which can interact with transcription factors, modulate their function, or are downstream targets. Finally, examples of disturbances of the cardiac regulatory network leading to congenital heart diseases in human are provided.

Molecular Pathways and Animal Models of Ebstein's Anomaly.

Ebstein's anomaly is a congenital malformation of the tricuspid valve characterized by abnormal attachment of the valve leaflets, resulting in varying degrees of valve dysfunction. The anatomic hallmarks of this entity are the downward displacement of the attachment of the septal and posterior leaflets of the tricuspid valve. Additional intracardiac malformations are common. From an embryological point of view, the cavity of the future right atrium does not have a direct orifice connected to the developing right ventricle. This chapter provides an overview of current insight into how this connection is formed and how malformations of the tricuspid valve arise from dysregulation of molecular and morphological events involved in this process. Furthermore, mouse models that show features of Ebstein's anomaly and the naturally occurring model of canine tricuspid valve malformation are described and compared to the human model. Although Ebstein's anomaly remains one of the least understood cardiac malformations to date, the studies summarized here provide, in aggregate, evidence for monogenic and oligogenic factors driving pathogenesis.

Biventricular function after Ebstein anomaly repair from a single-center echocardiography study.

OBJECTIVE: We aimed to examine biventricular remodeling and function after Ebstein anomaly (EbA) surgical correction using echocardiographic techniques, particularly, the relations between the biventricular changes and the EbA types. METHODS: From April 2015 to August 2022, 110 patients with EbA were included in this retrospective study based on the Carpentier classification. Echocardiography assessments during the preoperative, early, and mid-term postoperative periods were performed. RESULTS: The 54 patients with types A and B EbA were included in group 1, whereas the 56 patients with types C and D were in group 2. Seventy-eight patients underwent surgical correction of EbA. The median age at operation was 8.8 years. During the mid-term follow-up, only 9.1% of the patients had moderate or severe tricuspid regurgitation. Right ventricular (RV) systolic function worsened in group 2 at discharge (fractional area change: 27.6 ± 11.2 vs. 35.4 ± 11.5 [baseline], P < 0.05; global longitudinal strain: -10.8 ± 4.4 vs. -17.9 ± 4.7 [baseline], P = 0.0001). RV function slowly recovered at a mean of 12 months of follow-up. Regarding left ventricular (LV) and RV systolic function, no statistical difference was found between before and after surgery in group 1. CONCLUSION: A high success rate of surgical correction of EbA, with an encouraging durability of the valve, was noted. Biventricular systolic function was maintained fairly in most patients with types A and B postoperatively. A late increase in RV systolic function after an initial reduction and unchanged LV systolic function were observed in the patients with types C and D postoperatively.

Prenatal Cardiac Ultrasound Markers of Outcomes in Ebstein's Anomaly: An International Multicenter Case Series.

This study aimed to analyze prenatal cardiac ultrasound markers of outcome in fetuses with Ebstein's anomaly (EA). From a retrospective database, 35 fetuses diagnosed with EA at fetal medicine centers in Brazil, Italy, and Poland were retrieved. The primary outcome was perinatal mortality. We analyzed prenatal cardiac ultrasound markers of outcomes and perinatal follow-up. Gestational age at diagnosis, extracardiac fetal anomalies, spontaneous fetal demise, and gestational age at each event were recorded. In postnatal survivors, data on cardiac surgery and short-term postoperative outcomes were collected. Our study included a cohort of 35 fetuses with EA (mean gestational age of 29.4 weeks), in which 6 fetuses were excluded due to termination of pregnancy (3), pregnancy still ongoing (2), and missed follow-up (1). Of the remaining 29 cases, severe tricuspid regurgitation and absence of anterograde pulmonary flow (pulmonary atresia) were observed in 88%. Significant cardiomegaly accounts for 58% of these data with a mean cardiothoracic ratio of 0.59. The cardiovascular profile (CVS) score ≤ 6 in six patients with one survival (4 fetal deaths, one stillbirth, and one survival). All fetuses with CVS score of 5 had intrauterine demise. Seventeen fetuses were born alive (53.1% of 29 cases). Of the remaining fetuses, one (1%) fetal was a stillbirth, six (20%) fetuses were neonatal deaths, and five (17%) fetuses were fetal deaths. Of the nineteen patients who underwent surgery to correct the cardiac defect, 17 survived after surgery. Among the survivors, biventricular cardiac repair was performed using the cone technique (da Silva's approach) in the majority of cases. We observed 2 abnormal karyotypes among in the remaining 29 fetuses. One of the patients with abnormal karyotype was a fetus with ascites and large for gestational age. The other patient with abnormal karyotype underwent cardiac surgery and progressed to neonatal death. Nine patients (25%) had extracardiac anomalies (genitourinary anomalies and single umbilical artery), being that 2 of them are alive and 4 died (2 had fetal and 2 neonatal death). Fetal EA is associated with high mortality. The most common prenatal marker associated with non-survival was CVP score ≤ 6. Fetuses that survived and underwent postnatal corrective surgery are significantly favorable outcomes.

The Connection Between Anatomical Substrate and Clinical Severity in Fetal Ebstein Anomaly.

Ebstein anomaly (EA) is a rare congenital heart defect characterized by abnormal development of the tricuspid valve (TV) and right ventricular myocardium. This study documents 2 dramatic cases of fetal EA characterized by hydrops and cardiomegaly, leading to intrauterine or early neonatal death. These clinical outcomes were associated with morphological abnormalities including severe tricuspid regurgitation, unguarded TV orifice, pulmonary atresia, and flattened right ventricular myocardium. This study highlights that these adverse anatomical features may result in unfavorable clinical outcomes in fetal EA. While timely identification of such features by prenatal ultrasound is crucial for providing accurate prognostic stratification and guiding treatment decisions, fetopsy may be necessary to discern EA among the spectrum of right-heart anomalies.