A rare case of severe Ebstein's anomaly and hepatoblastoma in a neonate.

Primary liver tumours in neonates with single-ventricle palliation are exceedingly rare. We present the first reported case of neonatal hepatoblastoma with severe Ebstein's anomaly following Starnes procedure. The patient's postoperative course highlights the challenges and complications in simultaneous management of these diagnoses. Transition from shunted single-ventricle physiology to bidirectional cavopulmonary connection improved end-organ function, permitting more aggressive hepatic malignancy treatment.

Impact of Neonatal Intervention on Left Ventricular Performance in Ebstein's Anomaly and Tricuspid Valve Dysplasia.

BACKGROUND: Severe neonatal Ebstein's anomaly (EA) and tricuspid valve dysplasia (TVD) are associated with high perinatal morbidity and mortality. The authors recently demonstrated left ventricular (LV) dysfunction and dyssynchrony to be prevalent in affected newborns and to contribute to poor outcomes. The aim of this study was to investigate the impact of patent ductus arteriosus (PDA) closure, spontaneous or surgical ligation, or right ventricular exclusion (Starnes procedure) on LV performance in neonatal EA and TVD. METHODS: Neonates with EA or TVD encountered from 2004 to 2018 at three institutions were identified. Pre- and postoperative LV function was assessed using two-dimensional, Doppler-derived deformation (six-segment vector velocity imaging) and two measures of mechanical dyssynchrony (the SD of time to peak and global dyssynchrony index), and values were compared using paired t test analysis or the Wilcoxon rank sum test. RESULTS: Before the intervention, LV function was impaired in the PDA (n = 18) and Starnes (n = 6) groups and was similar between groups. After PDA closure, LV performance did not change. After the Starnes procedure, however, LV function, including synchrony, improved significantly: fractional area change from 45 ± 5% to 58 ± 8% (P = .003), global circumferential strain from -18.2 ± 5.0% to -32.5 ± 5.5% (P = .01), cardiac index from 1.9 ± 0.3 to 3.9 ± 1.5 L/min/m2 (P = .05), and circumferential strain dyssynchrony (dyssynchrony index from 0.19 ± 0.09 to 0.04 ± 0.02 [P = .009] and SD of time to peak from 59.8 ± 18.5 to 29.9 ± 8.2 [P = .02]). CONCLUSION: The Starnes procedure results in early improvements in LV dysfunction and dyssynchrony, not observed after PDA closure in neonatal severe EA and TVD, which may benefit critically unwell neonates.

Effect of concomitant atrial septal defect on left ventricular function in adult patients with unrepaired Ebstein's anomaly: a cardiovascular magnetic resonance imaging study.

BACKGROUND: Due to the heterogeneity of anatomic anomalies in Ebstein's anomaly (EA), particularly in the subset of patients with atrial septal defect (ASD), hemodynamic changes, which ultimately cause left ventricular (LV) deterioration remain unclear. The current study aimed to investigate the effect of concomitant ASD on LV function using cardiovascular magnetic resonance (CMR) imaging in patients with EA. METHODS: This study included 31 EA patients with ASD, 76 EA patients without ASD, 35 patients with simple ASD and 40 healthy controls. Left/right ventricular (RV, the RV was defined as a summation of the functional RV and atrialized RV in EA patients) volumes and functional parameters, LV strain parameters, and echocardiogram indices were compared among the four groups. Associations between variables were evaluated via Spearman or Pearson correlation analyses. The association between risk factors and LV ejection fraction (EF) was determined via multivariate linear regression analysis. RESULTS: Both EA patients and ASD patients had a higher RV/LV end-diastolic volume (RVEDV/LVEDV) as well as lower LV and RV ejection fractions (LVEF/RVEF) compared to healthy controls (all p < 0.05). Moreover, the EA patients with ASD had a significantly higher RVEDV/LVEDV and a lower LVEF and RVEF than those without ASD (all p < 0.05). Multivariate linear regression analysis revealed that the presence of ASD was independently associated with LVEF (ß = - 0.337, p < 0.001). The RVEDV/LVEDV index was associated with LVEF (r = - 0.361, p < 0.001). Furthermore, the LV longitudinal peak diastolic strain rate (PDSR) was lower in EA patients with ASD than those without ASD, patients with simple ASD, and healthy controls (p < 0.05). CONCLUSION: Concomitant ASD is an important risk factor of LV dysfunction in patients with EA, and diastolic dysfunction is likely the predominate mechanism related to LV dysfunction.

Recurrent right atrial thrombosis in Ebstein's anomaly.

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Prognostic Performance of Right Ventricular Global Longitudinal Strain Measurements in Patients With Ebstein Anomaly.

BACKGROUND: There are limited data on the prognostic role of right ventricular global longitudinal strain (RVGLS) in patients with Ebstein anomaly. OBJECTIVES: This study sought to assess the relationship between RVGLS and mortality and to compare prognostic performance of RVGLS with conventional echocardiographic indices of right ventricular (RV) systolic function. METHODS: This study identified adults with Ebstein anomaly with echocardiographic assessment of RV systolic function (RVGLS, RV fractional area change [RVFAC], RV tissue Doppler systolic velocity [RV s'], and tricuspid annular plane systolic excursion [TAPSE]) from 2003 to 2020. For ease of presentation, RVGLS was modeled as absolute values (ie, without the negative sign). RESULTS: Of 620 patients (median age 37 years; men 261 [42%]), the mean absolute RVGLS, RVFAC, RV s', and TAPSE were 18% ± 5%, 32% ± 9%, 14 ± 6 cm/s, and 22 ± 8 mm, respectively. There were correlations between absolute RVGLS and RVFAC (r = 0.71; P < 0.001), between absolute RVGLS and RV s' (r = 0.41; P = 0.03), and between absolute RVGLS and TAPSE (r = 0.44; P = 0.002). Of 620 patients, 47 (8%) died during follow-up, and 34 of these deaths were cardiovascular. Absolute RVGLS was independently associated with all-cause mortality (adjusted HR: 0.94; 95% CI: 0.92-0.96 per unit increase) and cardiovascular mortality (adjusted HR: 0.92; 95% CI: 0.90-0.94 per unit increase). Absolute RVGLS had superior prognostic power (ie, ability to predict mortality) as compared with RVFAC, RV s', or TAPSE. CONCLUSIONS: These data support the use of RVGLS for risk stratification in Ebstein anomaly, and further studies are required to assess how interventions may affect different patients according to risk stratification.

Pregnancy outcomes in women with Ebstein's anomaly: data from the Registry of Pregnancy And Cardiac disease (ROPAC).

OBJECTIVE: Ebstein's anomaly is a rare congenital cardiac condition and data regarding pregnancy outcomes in this patient group are scarce. We evaluated the maternal and perinatal risks of pregnancy in 81 women with Ebstein's anomaly. METHODS: The Registry of Pregnancy and Cardiac disease is a prospective global registry of pregnancies in women with structural cardiac disease. Pregnancy outcomes in women with Ebstein's anomaly were examined. The primary outcome was the occurrence of a major adverse cardiac event (MACE) defined as maternal mortality, heart failure, arrhythmia, thromboembolic event or endocarditis. Secondary endpoints were obstetric and perinatal outcomes and the influence of pregnancy on tricuspid valve regurgitation as well as right atrial and ventricular dimensions. RESULTS: In the 81 women with Ebstein's anomaly (mean age 29.7±6.1 years, 46.9% nulliparous), MACE occurred in 8 (9.9%) pregnancies, mostly heart failure (n=6). There were no maternal deaths. Prepregnancy signs of heart failure were predictive for MACE. Almost half of the women were delivered by caesarean section (45.7%) and preterm delivery occurred in 24.7%. Neonatal mortality was 2.5% and 4.9% of the infants had congenital heart disease. In the subgroup in which prepregnancy and postpregnancy data were available, there was no difference in tricuspid valve regurgitation grade or right atrial and ventricular dimensions before and after pregnancy. CONCLUSIONS: Most women with Ebstein's anomaly tolerate pregnancy well, but women with prepregnancy signs of heart failure are at higher risk for MACE during pregnancy and should be counselled accordingly.

Tricuspid cleft or tetracuspid valve? Usefulness of three-dimensional echocardiogram in the assessment of isolated tricuspid regurgitation in pediatrics.

Tricuspid regurgitation (TR) in children may be secondary to congenital anomalies of the tricuspid valve complex which is composed by annulus, leaflets, commissures, chordae tendineae, and papillary muscles. The most common congenital cause is Ebstein's anomaly; however, there are less frequent causes such as abnormal number of tricuspid leaflets, tricuspid cleft, leaflet prolapse, double orifice tricuspid valve, and congenital tricuspid valve dysplasia. Identifying the precise cause is important to plan an appropriate repair surgery. In this article, the case of a 4-year-old patient with a tetracuspid valve with significant tricuspid regurgitation is presented and the morphological analysis was made by two-dimensional (2D) and three-dimensional (3D) transthoracic echocardiography. The morphological differences between a tetracuspid valve and a cleft of the anterior leaflet tricuspid valve are exposed. 3D echocardiographic evaluation of the tricuspid valve allowed a better understanding of the tricuspid valve anatomy, which includes evaluation of the tricuspid annulus, leaflets, commissures, and subvalvular apparatus. Recognizing the accurate cause of isolated tricuspid regurgitation allows better planning of the surgical technique.

Assessment of Left Ventricular Myocardial Fibrosis in Adult Patients With Ebstein Anomaly: A Retrospective Cohort Study Based on Cardiac Magnetic Resonance and Histopathological Samples.

BACKGROUND: The association between Ebstein anomaly and myocardial fibrosis, particularly in the left ventricle, has been controversial. We aimed to assess the prevalence of replacement fibrosis with a focus on the left ventricle (LV) using cardiac magnetic resonance (CMR), make a histopathological association between LV fibrosis and CMR findings, and explore whether LV fibrosis is an independent risk factor for cardiovascular disease mortality using a derived risk score. METHODS: We performed a 12-year (2009-2021) retrospective cohort of adult patients with Ebstein anomaly who underwent CMR. The CMR evaluation included a comprehensive assessment of myocardial fibrosis by late gadolinium enhancement (LGE). Four postmortem samples were obtained from our cohort and stained using Masson trichrome to characterize LV fibrosis. We used Cox-regression analysis to identify and derive a prediction score that associated LV fibrosis with cardiovascular disease mortality. RESULTS: We included 57 adults with Ebstein anomaly (52% men; median age, 29.52 [interquartile range, 21.24-39.17] years), of whom 12 died during follow-up. LGE prevalence by CMR was observed in 52.6% in any chamber; LV-LGE in 29.8%. Histopathological findings revealed a mid-wall pattern with predominantly interstitial fibrosis and minimal replacement fibrosis. LV-LGE was associated with increased risk of cardiovascular disease mortality (hazard ratio, 6.02 [95% CI, 1.22-19.91]) attributable to lateral and mid-wall LV segment involvement. Our mortality score achieved an overall good prediction capacity (R2, 0.435; C statistic, 0.93; Dxy, 0.86). CONCLUSIONS: There is a high prevalence of LV fibrosis replacement in adults with Ebstein anomaly, characterized by specific CMR and histological patterns. Furthermore, LV-LGE fibrosis is an independent predictor of cardiovascular disease mortality, which could be integrated into risk assessment in clinical management.

Permanent pacemaker implantation in post one-and-a-half ventricle repair with tricuspid valve replacement in Ebstein anomaly: An innovative technique.

INTRODUCTION: Transvenous pacemaker implantation in patients post bidirectional Glenn anastomosis in one-and-a-half ventricle repair is usually not feasible. However, with a modified surgical technique for Glenn anastomosis and a combined interventional and electrophysiologic approach, the transvenous pacemaker was successfully implanted. FINDINGS AND CONCLUSIONS: We reported a novel technique of pacemaker implantation in a 27-year-old woman, underlying Ebstein anomaly of the tricuspid valve, who developed intermittent complete atrioventricular block at 5 years after surgical repair. The patient had a tricuspid valve replacement and a novel modified bidirectional Glenn anastomosis for one-and-a-half ventricle repair. The Glenn circuit was conducted by opening a window between the posterior wall of the superior vena cava (SVC) and the anterior wall of the right pulmonary artery (RPA), combined with putting a Goretex membrane in the SVC below the SVC-RPA window without disconnecting the SVC from the right atrium. The transvenous pacemaker was implanted by perforating the Goretex membrane, then passing the leads from the axillary vein through the perforated membrane and placing them in the coronary sinus and right atrium.

[Ebstein's anomaly with ventricular preexcitation in an adult patient]. / Anomalía de Ebstein con preexcitación ventricular en un paciente adulto.

Background: Ebstein's anomaly is a rare complex congenital heart disease, first described in 1866 by physician Wilhelm Ebstein, characterized by anatomical and functional malformations of the tricuspid valve and the right ventricle because of inadequate delaminization of the tricuspid valve tissue. By presenting a clinical case and reviewing the literature, we analyzed the approach of an adult patient with Ebstein anomaly with ventricular preexcitation. Clinical case: We describe the case of a 34-year-old male patient, with a clinical history of palpitations and dyspnea, and his paraclinics documented Ebstein type B anomaly associated with patent foramen oval and paroxysmal supraventricular tachycardia, Successful radiofrequency ablation was performed and tricuspid valvuloplasty was proposed. Conclusion: It is concluded that Ebstein's anomaly is complex with clinical, morphological and physiopathological heterogeneous spectrum. Manifested from severe symptomatic forms in the neonatal period to asymptomatic or minimally symptomatic ones detected incidentally. Its diagnosis is based on clinical suspicion and confirmed by echocardiography or imaging studies. The therapeutic strategy may be based on medical management in its mild asymptomatic forms up to surgical interventions that include tricuspid valvuloplasty, palliative surgery, valve replacement or cardiac transplantation.

Introducción: la anomalía de Ebstein es una cardiopatía congénita compleja infrecuente, descrita por primera vez en 1866 por el médico Wilhelm Ebstein, caracterizada por malformaciones anatómicas y funcionales de la válvula tricúspide y del ventrículo derecho a consecuencia de una inadecuada deslaminización del tejido valvular tricuspídeo. Mediante la presentación de caso clínico y revisión de la literatura analizamos el abordaje de un paciente adulto con anomalía de Ebstein con preexcitación ventricular. Caso clínico: describimos el caso de un paciente masculino de 34 años, con historial clínico de palpitaciones y disnea, en sus paraclínicos se documentó anomalía de Ebstein tipo B asociado a foramen oval permeable y taquicardia paroxística supraventricular, como tratamiento se realizó ablación por radiofrecuencia exitosa y proponiéndose valvuloplastia tricuspídea. Conclusión: la anomalía de Ebstein es compleja de espectro clínico, morfológico y fisiopatológico heterogéneo, manifestada desde formas graves sintomáticas en el periodo neonatal hasta asintomáticas o mininamente sintomáticas detectadas de forma incidental. Su diagnóstico parte de la sospecha clínica confirmándose a partir de ecocardiografía o estudios de imagen. La estrategia terapéutica puede estar basada en manejo médico en sus formas leves asintomáticas hasta intervenciones quirúrgicas que incluyen valvulo-plastia tricuspídea, cirugía paliativa, reemplazo valvular o trasplante cardiaco.

Treatment of Severe Fetal Ebstein's Anomaly with Prenatal Nonsteroidal Anti-Inflammatory Therapy.

INTRODUCTION: Prenatally diagnosed Ebstein's anomaly with tricuspid valve dysplasia (EA/TVD) is a rare and high-risk congenital heart malformation with limited effective treatments. We report a case of severe fetal EA with hydrops treated with modest doses of nonsteroidal anti-inflammatory drug (NSAID) therapy, resulting in reversal of hydrops and a favorable fetal outcome. CASE PRESENTATION: Fetal heart defects included an inferiorly displaced tricuspid valve, severe tricuspid regurgitation, significantly dilated right atrium, and hypoplastic pulmonary valve with moderate regurgitation resulting in a circular shunt across the ductus arteriosus. Maternal indomethacin therapy was initiated at 31+5 weeks gestation due to the development of fetal hydrops as demonstrated by the presence of a pericardial effusion and ascites. Indomethacin therapy resulted in the desired restriction of the ductus arteriosus and resolution of fetal hydrops. Maternal therapy was transitioned to ibuprofen and serial fetal echocardiograms ensured continued ductal restriction. Delivery occurred via cesarean at 36+3 weeks. The neonate did not require immediate cardiac surgical intervention and was discharged home with close follow-up. DISCUSSION/CONCLUSION: A lower dose of prenatal NSAID therapy effected successful ductal restriction and hemodynamic mitigation of the circular shunt, resulting in reversal of hydrops and avoidance of postnatal cardiac surgical intervention.

Moyamoya Disease Complicating Ebstein's Anomaly.

Ebstein's anomaly is an uncommon congenital disorder affecting the tricuspid valve. We herein report a 38-year-old woman who experienced consciousness and sensory disturbance during treatment for heart failure caused by Ebstein's anomaly. Urgent magnetic resonance imaging and cerebral angiography demonstrated acute cerebral infarction and internal carotid artery obstruction with the development of collateral arteries. We diagnosed her with multiple cerebral infarctions due to moyamoya disease. Ebstein's anomaly concomitant with moyamoya disease is extremely rare. However, we should consider the possibility of this rare but important concurrence when treating patients with heart failure due to Ebstein's anomaly to avoid excessive diuresis and vasodilation and irreversible brain injury.

Intracardiac echocardiography as an adjunctive tool for accessory pathway ablation in Ebstein anomaly.

BACKGROUND: Accessory pathway (AP)-related arrhythmias are frequent in patients with Ebstein anomaly (EA), and arrhythmia recurrence after catheter ablation remains high despite current technological developments. METHODS: Case series report of patients with EA who were taken to an accessory pathway ablation procedure and where clinical, procedure, and follow-up data are described. In all cases, mapping of the true tricuspid annulus guided by intracardiac ultrasound was used. RESULTS: Six patients with EA underwent an ablation procedure using ICE to delineate the true tricuspid annulus. The duration of the procedure was 253.33 ± 60.92 min, with an acute success of 100%. After a mean follow-up of 16.16 ± 7.7 months, no recurrences of tachycardia were documented, and all patients were free of antiarrhythmic medications. CONCLUSION: Intraprocedural ICE helps to delineate the true tricuspid annulus that contains the APs, facilitating mapping and ablation. We hypothesize that the systematic use of ICE in this scenario improves ablation efficacy while reducing complications, but this must be verified in prospective studies.

The Mid-Term Outcomes of Cone Repair or Replacement of Tricuspid Valve in Patients with Ebstein's Anomaly: Our Experience.

BACKGROUND: Cone repair of the tricuspid valve (TV) is a contemporary reproducible technique for surgical reconstruction of Ebstein's anomaly. Different authorities have shown that this technique restores excellent tricuspid valve function. In Bangladesh, this technique still is unfamiliar to many. We hereby present a case series of cone repair and TV replacement with the mid-term outcome (one year to six years) at the National Heart Foundation Hospital & Research Institute, Dhaka, Bangladesh. METHODS: We prospectively studied 21 patients, who underwent surgical intervention (cone repair or tricuspid valve replacement) for Ebstein's anomaly of TV from March 2014 to June 2020. We divided the total patient population into the cone repair and TV replacement groups. Preoperative, postoperative, and follow-up data were collected from the hospital records, telephone conversations, and clinic visits. All collected data statistically were analyzed. RESULTS: Our patients showed there were statistically significant improvements after surgical intervention with regard to tricuspid regurgitation (TR) (P < 0.001), tricuspid annular plane systolic excursion (TAPSE) (P < 0.001), right ventricular (RV) function (P < 0.001), and New York Heart Association (NYHA) class (P < 0.001). These developments were sustained throughout the follow-up period. CONCLUSION: Cone repair should be offered to the symptomatic patients of Ebstein's anomaly because symptoms relief, reduction of morbidity, and survival benefits are excellent. Above all, the cone reconstruction shows fantastic results and may well become the surgical technique for patients with Ebstein's anomaly. We hope that new valve repair programs may provide extended longevity and restored quality of life to the patient of Ebstein's anomaly (EA) with the appropriate measures. In case of failed repair, valve replacement is an encouraging option.

[Successful Surgical Repair for Adult Ebstein Disease Using Cone Reconstruction Combined with One and a Half Ventricle Repair].

A 67-year-old woman presented with dyspnea on effort and cyanosis due to massive tricuspid regurgitation and an atrial septal defect with right to left shunt. She was diagnosed with Ebstein disease at the age of 53 when she underwent surgery for varicose veins. Echocardiography showed the severe apical displacement of the septal and posterior leaflet. The anterior leaflet also partially displaced to the apex and demonstrated tethering caused by a dilated right ventricle. Cardiac magnetic resonance imaging showed a dilated right atrium and an enlarged atrialized right ventricle, in addition to marked low cardiac output in the dilated right ventricle. The surgical findings corresponded to Carpentier classification type C. Cone reconstruction was performed. Bidirectional Glenn anastomosis was reguired because of low cardiac output in the remaining functional right ventricle after Cone reconstruction. The patient's postoperative course was uneventful, and tricuspid regurgitation and stenosis remained mild. The patients had no occurrence of right heart failure or arrhythmia for two years after surgery.

Ebstein anomaly associated with retinal venular dilatation, migraine, and visual snow syndrome: a case report.

BACKGROUND: To present a case with Ebstein anomaly, a rare congenital heart disorder, with ophthalmological and neurophthalmological signs and symptoms. To date, retinal venous dilatation and visual snow syndrome have not been previously been published in this anomaly. CASE PRESENTATION: A 10-year-old white girl was diagnosed with Ebstein anomaly. From age 12, she regularly suffered from migraines with auras and photophobia. At age 16 she started to see short-term bouts of white snow, that after a year were present all day. At age 20, she was found to have a decreased retinal arteriovenous ratio. CONCLUSIONS: Retinal arterial tortuosity and venular dilatation are common in congenital heart disease but have not been described in Ebstein anomaly, nor has the visual snow syndrome.

Impact of fetal haemodynamics on surgical and neurodevelopmental outcomes in patients with Ebstein anomaly and tricuspid valve dysplasia.

OBJECTIVES: To evaluate the impact of fetal haemodynamics on surgical and neurodevelopmental outcomes in severe Ebstein anomaly and tricuspid valve dysplasia. METHODS: Thirty-four fetuses with Ebstein anomaly/tricuspid valve dysplasia were referred from 2013 to 2019 for fetal echocardiography and clinical management. Nineteen fetuses with Ebstein anomaly/tricuspid valve dysplasia and 30 controls underwent cardiovascular magnetic resonance to quantify the fetal blood flow and to calculate cerebral oxygen delivery (cDO2) and consumption (cVO2). The 3D steady-state free precession acquisition was used to measure fetal brain volume. Surgical outcome, brain MRI, and neurodevelopmental follow-up were reviewed. RESULTS: Twenty-six fetuses were live born (76%) and survival (65%) at a mean follow-up of 4 years. Nine fetuses had a brain MRI before discharge, and all had clinically silent injuries and volume loss. At 18 months, five single-ventricle patients had a neurodevelopmental delay in cognition and language (mean percentile: 11th), with gross-motor skills more affected than fine-motor skills (mean percentiles: 4th and 34th). Fetuses with Ebstein anomaly/tricuspid valve dysplasia had smaller brains, lower combined ventricular output, ascending aorta, superior caval vien and umbilical vein flows, lower oxygen saturation in ascending aorta and superior caval vien, lower cDO2 and cVO2 (p < 0.05). Superior caval vien/combined ventricular output and descending aorta/combined ventricular output ratios were lower in fetuses with circular shunt (p < 0.05). Fetuses requiring the Starnes procedure tended to have smaller brains, lower combined ventricular output, superior caval vien, descending aorta, and umbilical vein flows. CONCLUSIONS: All patients with Ebstein anomaly/tricuspid valve dysplasia are at high risk of neurodevelopmental delay and warrant follow-up. Fetal cardiovascular magnetic resonance revealed impaired brain growth with diminished cerebral blood flow and cDO2, the extenting dependent on the severity of the haemodynamic compromise.