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.

Right Ventricular Electromechanical Dyssynchrony and Its Relation to Right Ventricular Remodeling, Dysfunction, and Exercise Capacity in Ebstein Anomaly.

BACKGROUND: Abnormal atrioventricular and intraventricular electrical conduction and dysfunction of the functional right ventricle (fRV) are common in Ebstein anomaly (EA). However, fRV mechanical dyssynchrony and its relation to fRV function are poorly characterized. We evaluated fRV mechanical dyssynchrony in EA patients in relation to fRV remodeling, dysfunction, and exercise intolerance. METHODS: We retrospectively analyzed data from nonoperated EA patients and age-matched controls who underwent echocardiography, cardiovascular magnetic resonance imaging, and cardiopulmonary exercise testing to quantify right ventricular (RV) remodeling, dysfunction, and exercise capacity. The relation of these to fRV dyssynchrony was retrospectively investigated. Right ventricular mechanical dyssynchrony was defined by early fRV septal activation (right-sided septal flash), RV lateral wall prestretch/late contraction, postsystolic shortening, and intra-RV delay using two-dimensional strain echocardiography. The SD of time to peak shortening among the fRV segments was calculated as a parameter of mechanical dispersion. RESULTS: Thirty-five EA patients (10 of whom were <18 years of age) and 35 age-matched controls were studied. Ebstein anomaly patients had worse RV function and increased intra-RV dyssynchrony versus controls. Nineteen of 35 (54%) EA patients had early septal activation with simultaneous stretch and consequent late activation and postsystolic shortening of RV lateral segments. Intra-fRV mechanical delay correlated with fRV end-diastolic volume index (r = 0.43, P < .05) and fRV end-systolic volume index (r = 0.63, P < .001). The fRV ejection fraction was lower in EA with versus without right-sided septal flash (44.9 ± 11.0 vs 54.2 ± 8.2, P = .012). The fRV mechanical dispersion correlated with the percentage of predicted peak VO2 (r = -0.35, P < .05). CONCLUSIONS: In EA, fRV mechanical dyssynchrony is associated with fRV remodeling, dysfunction, and impaired exercise capacity. Mechanical dyssynchrony as a therapeutic target in selected EA patients warrants further study.

The Use of Feature Tracking Technique for the Quantification of Ventricular Strain Pattern in Patients with Ebstein's Anomaly: A Case-Control Study.

Background: Ebstein's anomaly (EA) is a congenital heart disorder characterized by abnormal function of the tricuspid valve. There are several ways to study tissue composition using magnetic resonance imaging (MRI). One of the most accurate methods is strain calculation using the feature tracking (FT) technique. Due to the novelty of the FT technique in cardiac magnetic resonance (CMR) imaging, there is a lack of comprehensive guidelines to conduct FT-MRI and to present a quantitative report. The current study is aimed to evaluate the FT technique in EA patients and to compare the obtained numerical values with those of healthy individuals. Methods: A total of 33 individuals were enrolled in a study conducted in 2018-2019 at Shahid Rajaei Hospital, Tehran, Iran. Radial, longitudinal, and circumferential strain patterns of the left and right ventricles were determined in both the patients and the controls using the FT technique. Data were analyzed using SPSS software, version 22.0. Results: The results showed a significantly lower left ventricular (LV) radial strain in EA patients compared to the control group (P=0.002). In addition, the right ventricular (RV) global longitudinal strain (GLS) in EA patients was significantly lower than in the controls (P=0.001). Other parameters (LV global longitudinal strain, RV radial strain, LV circumferential strain, and RV circumferential strain) did not differ significantly between the two groups. Conclusion: Determination of strain patterns using cardiac MRI is a promising method for the diagnosis of EA. Markers such as LV longitudinal strain and RV-GLS are the most suitable parameters for the early diagnosis of heart dysfunction.

[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.

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.

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.

Left Ventricular Dysfunction in Neonatal Ebstein's Anomaly and Tricuspid Valve Dysplasia.

BACKGROUND: The mechanisms and prognostic importance of left ventricular (LV) dysfunction in neonatal Ebstein's anomaly (EA) and tricuspid valve dysplasia (TVD) are not well understood. The authors recently demonstrated reduced cardiac output and dyssynchrony to be common in fetal EA/TVD and therefore hypothesized that LV dysfunction may be associated with worse outcomes in neonatal EA/TVD. METHODS: A multicenter retrospective case-control study was conducted among neonatal patients with EA/TVD (n = 32) and a healthy control cohort (n = 17) encountered from 2004 to 2019. The left ventricle was assessed in the first 48 hours after birth using two-dimensional, Doppler-derived, six-segment global and segmental longitudinal strain and circumferential strain (CS) and dyssynchrony indices (the SD of time-to-peak strain and a novel global dyssynchrony index [DI], calculated as [peak segmental average - peak global average]/peak segmental average). RESULTS: Neonates with EA/TVD demonstrated reduced combined cardiac index (4.2 ± 1.5 L/min/m2 vs 6.5 ± 2.2 L/min/m2 in control subjects, P < .001), impaired LV CS (-15.4 ± 6.9 vs -26.2 ± 5.8, P < .001), and increased circumferential dyssynchrony (CS DI 0.20 ± 0.16 vs 0.09 ± 0.04 [P = .019]; SD of time-to-peak CS 63 ± 25 vs 40 ± 15 [P = .003]). Transplantation-free survival occurred in 20 of 32 patients (63%) at 6 months. Increased CS DI and absence of pulmonary valve flow (PVF) were most predictive of mortality; CS DI > 0.2 was associated with 25% survival in subjects without PVF, whereas all patients with CS DI < 0.1 survived. CONCLUSIONS: In neonates with EA/TVD and absence of PVF, there is abnormal LV deformation and compromised cardiac output in association with increased dyssynchrony. Increased CS DI is associated with increased risk for mortality in EA/TVD with no forward PVF.

Tricuspid Valve Dysplasia at Fetal Autopsy.

Introduction: Tricuspid valve abnormalities detected in fetal life include Ebstein anomaly and tricuspid valve dysplasia. The differentiation between these 2 entities can sometimes be challenging in the 2nd trimester fetus. We report a case of tricuspid valve dysplasia diagnosed on fetal autopsy. Case Report: A primigravida was diagnosed at 22 weeks' gestation to have Ebstein anomaly with severe tricuspid regurgitation. There was intra-uterine fetal demise. On fetal autopsy, the tricuspid valve leaflets were not apically displaced and the leaflets were nodular with rolled up edges. This supported a diagnosis of tricuspid valve dysplasia. Conclusion: The difficulties in differentiating Ebstein anomaly from tricuspid valve dysplasia due to inherent limitations in fetal imaging can be resolved by fetal autopsy. Valvular dysplasia will not have apical displacement of the valve leaflets.

Novel hemizygous loss-of-function variant in NONO identified in a South African boy.

Hemizygous loss-of-function variants in the non-POU domain-containing, octamer-binding gene, NONO, cause X-linked mental retardation syndrome 34 (MRXS34). Here, we describe the 12th patient in the literature with this rare syndrome, the first affected male from sub-Saharan Africa. This South African patient presented with dysmorphic features, congenital cardiac abnormalities (Ebstein's anomaly, left ventricular non-compaction, and a VSD), and developmental delay. He was enrolled in our "Undiagnosed Disease Programme." Exome sequencing identified a novel hemizygous 14bp deletion in NONO, which he inherited from his unaffected, healthy mother. His features overlap with the previous patients described, lending more support to the assertion that MRXS34 is a recognizable, albeit rare, syndrome. The cardiac anomalies are particularly distinctive, which combined with a variety of other associated features, should prompt the inclusion of NONO-associated MRXS34 in the differential diagnosis.

Case Report of a 33-year-old with Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy.

Ebstein malformation of tricuspid valve is a congenital disease of tricuspid valve with associated right ventricular cardiomyopathy. Hypertrophic cardiomyopathy is a form of inherited left ventricular cardiomyopathy caused by sarcomeric protein gene mutations with inherent risks of sudden cardiac death. Here we report a rare case with co-occurrence of Ebstein malformation of tricuspid valve and hypertrophic cardiomyopathy in a young patient.

Ebstein's anomaly during pregnancy: experience from a tertiary care centre - a case series and review of literature.

Pregnancy complicated with uncorrected Ebstein's anomaly is uncommon and may pose a serious threat to maternal and foetal life in the clinical setting of altered hemodynamics of pregnancy. Data of eight pregnancies in four women with Ebstein's anomaly who delivered in a tertiary care institute was analysed. Among the four women, one had associated atrial septal defect, one had pulmonary hypertension and three had right bundle branch block. There were two miscarriages and six successful pregnancies resulting in live births. Three of the pregnancies were delivered by caesarean section. There was one pregnancy complicated by severe preeclampsia, no preterm births or maternal cardiac complications. There was one neonate with congenital ostium secundum atrial septal defect. All patients were managed by a multidisciplinary team involving Obstetrician, Cardiologist, Anaesthesiologist and Neonatologist.IMPACT STATEMENTWhat is already known on this subject? Ebstein's anomaly is a rare congenital anomaly with apical displacement of the septal tricuspid leaflet in association with leaflet dysplasia. It may cause varied presentation in pregnancy depending on the severity of the lesion.What do the results of this study add? Ebstein's anomaly may become symptomatic for the first-time during pregnancy. Patients with NYHA class II symptoms and no cyanosis generally tolerate pregnancy well. Miscarriages and intrauterine growth restriction may occur in the presence of this condition. Vaginal delivery is advised and caesarean is done only for obstetric indications.What are the implications of these findings for clinical practise and/or future research? The management of pregnancy with uncorrected Ebstein's anomaly is highly challenging especially in a low resource setting and requires tertiary centre care. Multidisciplinary team involvement can help to improve the outcomes in such pregnancies.

Two decades of experience on ablation in children with Ebstein's anomaly.

INTRODUCTION: Accessory pathways are commonly seen due to delamination of tricuspid valve leaflets. In addition to accessory pathways, an enlarged right atrium due to tricuspid regurgitation and incisional scars creates substrates for atrial re-entries and ectopic tachycardia. We sought to describe our experience with catheter ablation in children with Ebstein's anomaly. METHODS AND RESULTS: During the study period, of 89 patients diagnosed with Ebstein's anomaly, 26 (30.9%) of them who underwent 33 ablation procedures were included in the study. Accessory pathways were observed in the majority of procedures (n = 27), whereas atrial flutter was observed in five, atrioventricular nodal reentrant tachycardia in five, and atrial tachycardia in two procedures. Accessory pathways were commonly localised in the right posteroseptal (n = 10 patients), right posterolateral (n = 14 patients), septal (n = two patients), and left posteroseptal (n = one patient) areas. Multiple accessory pathways and coexistent arrhythmia were observed in six procedures. All ablation attempts related to the accessory pathways were successful, but recurrence was observed in five (19%) of the ablations. Ablation for atrial flutter was performed in five patients; two of them were ablated successfully. One of the atrial tachycardia cases was ablated successfully. CONCLUSIONS: Ablation in patients with Ebstein's anomaly is challenging, and due to nature of the disease, it is not a rare occasion in this group of patients. Ablation of accessory pathways has high success, but also relatively high recurrence rates, whereas ablation of atrial arrhythmias has lower success rates, especially in operated patients.

From Safety to Benefit in Cell Delivery During Surgical Repair of Ebstein Anomaly: Initial Results.

BACKGROUND: The objective of this study is to assess the safety and early impact of intramyocardial delivery of autologous bone marrow-derived mononuclear cells (BM-MNC) at time of surgical Ebstein repair. METHODS: Patients with Ebstein anomaly (ages 6 months to 30 years) scheduled to undergo repair of the tricuspid valve were eligible to participate in this open-label, non-randomized phase I clinical trial. BM-MNC target dose was 1-3 million cells/kg. Ten patients have undergone surgical intervention and cell delivery to the right ventricle (RV) and completed 6-month follow-up. RESULTS: All patients underwent surgical tricuspid valve repair and uneventful BM-MNC delivery; there were no ventricular arrhythmias and no adverse events related to study product or delivery. Echocardiographic RV myocardial performance index improved and RV fractional area change showed an initial decline and then through study follow-up. There was no evidence of delayed myocardial enhancement or regional wall motion abnormalities at injection sites on 6-month follow-up magnetic resonance imaging. CONCLUSIONS: Intramyocardial delivery of BM-MNC after surgical repair in Ebstein anomaly can be performed safely. Echocardiography variables suggest a positive impact of cell delivery on the RV myocardium with improvements in both RV size and wall motion over time. Additional follow-up and comparison to control groups are required to better characterize the impact of cell therapy on the myopathic RV in Ebstein anomaly.

[Atypical chest pain revealing an asymptomatic Ebstein´s anomaly: case report]. / Une maladie d'Ebstein asymptomatique découverte à l'occasion d'une douleur thoracique atypique: à propos d'un cas.

Ebstein´s disease is a rare congenital malformation whose clinical presentation differs according to the anatomical form and age of the patient. In adults, it presents mainly as right or global heart failure or arrhythmia. Survival is exceptionally long in some cases. Management varies according to the anatomical form and clinical presentation, ranging from simple surveillance for asymptomatic patients to surgical management for other cases. We report the case of a patient with asymptomatic Ebstein´s disease until the age of 54 years when it was discovered at the time of atypical chest pain, an uncommon presentation of the disease. Management in this case consisted of strict clinical and ultrasound surveillance.

Anomalía de Ebstein y preeclampsia, asociación infrecuente: reporte de caso y revisión de la literatura / Ebstein's anomaly and preeclampsia, a rare association: case report and literature review

Resumen Se presenta el caso de una gestante con cardiopatía congénita no estudiada que acudió al servicio de urgencias en la semana 25 + 4 por palpitaciones, con evidencia de hipertensión arterial desde el ingreso. Los estudios diagnósticos revelaron anomalía de Ebstein, con gran compromiso de cavidades derechas y asociado a comunicación interauricular. También se documentó preeclampsia lejos del término, con restricción grave del crecimiento intrauterino. Durante la estancia hospitalaria, y ante negativa de la paciente a finalizar la gestación, desarrolló síntomas de congestión pulmonar por sobrecarga. Una vez falleció el feto in utero y después de inducir el parto, remitieron los síntomas cardiovasculares y se controló la hipertensión.

Abstract We present the case of a pregnant woman with previously undiagnosed congenital heart disease, who presented to the emergency department at week 25 + 4 due to palpitations, with evidence of arterial hypertension from admission. Diagnostic studies revealed Ebsteins anomaly, with great involvement of the right cavities and associated with atrial septal defect. Preeclampsia was also documented far from term, associated with severe intrauterine growth restriction. During the hospital stay and due to the refusal of the patient to end the pregnancy, she developed symptoms of pulmonary congestion due to overload, once the fetus died in utero and after inducing labor, the cardiovascular symptoms remitted and hypertension was controlled.