A rare combination of Ebstein's anomaly with left ventricular outflow tract obstruction.

We describe a rare case of Ebstein's anomaly (EA) combined with left ventricular outflow tract obstruction in a 54-year-old man that was accurately identified by echocardiography, cardiac magnetic resonance imaging (CMR). The imaging result was ultimately validated by surgery. We emphasize the clinical importance of using echocardiography and CMR together to provide a thorough, noninvasive explanation of these results.

Cardiac remodeling after tricuspid valve repair in Ebstein's anomaly: a magnetic resonance study.

OBJECTIVES: We aimed to evaluate immediate and midterm cardiac remodeling after surgery by cardiac magnetic resonance (CMR) in Ebstein's anomaly (EA), and also to investigate preoperative predictors of right ventricular (RV) normalization. METHODS: We retrospectively analyzed CMR parameters of the whole heart in adult patients with EA before surgery, at discharge and follow-up. RESULTS: A total of 26 patients were included and performed CMR at 7 days (interquartile range, 3-13 days) before surgery. Immediate postoperative CMR was finished at discharge (median: 8 [7-9] days; n = 18) and follow-up CMR at 187 days (interquartile range, 167-356 days; n = 17). RV and right atrial (RA) volumes promptly decreased immediately after surgery and at follow-up (all p < 0.05). RV ejection fraction decreased significantly at discharge (p < 0.05) but recovered at follow-up (p = 0.18). However, RV global longitudinal strain and RA reservoir strain were significantly impaired immediately and midterm after surgery (all p < 0.05). Indexed left ventricular (LV) end-diastolic volume, stroke volume, as well as global longitudinal strain increased from preoperative to follow-up (all p < 0.05). Patients who achieved normalization of RV volumes after surgery had smaller severity index and RV and RA volumes and higher LV ejection fraction and RA reservoir strain at baseline than patients without RV normalization (all p < 0.05). CONCLUSIONS: Reverse biventricular remodeling took place in EA after tricuspid valve surgery. Tricuspid valve reconstruction should be performed before deterioration of RV volume overload and LV function to achieve reverse RV remodeling. Key Points • After removing the volume load of tricuspid regurgitation in Ebstein's anomaly, reverse remodeling was detected by CMR in both left and right heart at midterm follow-up. • Tricuspid valve reconstruction should be performed before deterioration of RV volume overload and LV function to achieve reverse RV remodeling.

Ebstein Anomaly and Sudden Childhood Death.

A 13-year-old girl is reported who died suddenly and unexpectedly in her sleep from previously undiagnosed Ebstein anomaly. At autopsy, there was dilatation of the right atrium with marked dilatation of the right auricle and apical displacement of the tricuspid valve into the right ventricular cavity with atrialization of the upper portion of the right ventricle. There were also prominent dysplastic changes in both the septal and posterior leaflets of the tricuspid valve with thickening of the valve and fusion of leaflets to the wall of the ventricle. Histology of the myocardium showed focal, minor microscopic areas of interstitial fibrosis with marked fibrous dysplasia and thickening of the tricuspid valve. Lethal arrhythmias occur in this condition because of the geographical relationship of the conduction system to the abnormal anatomical structures. As adolescents who died suddenly are often minimally symptomatic, cases will rarely present de novo to forensic autopsy.

Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA.

BACKGROUND: Familial Ebstein anomaly is a rare form of congenital heart disease. We report 7 individuals among 2 generations of 1 family with Ebstein anomaly. This family was first reported in 1991 by Balaji et al in which family members were also reported to have a mild skeletal phenotype. The most likely mechanism of inheritance was concluded to be autosomal dominant. We sought to identify the genetic pathogenesis in this family using a next generation sequencing approach. METHODS AND RESULTS: Whole exome sequencing was performed in 2 cousins in this family using the Agilent SureSelect Human all Exon 51 Mb version 5 capture kit. Data were processed through an analytic in-house pipeline. Whole exome sequencing identified a missense mutation in FLNA (Filamin A), an actin-binding protein located at Xq28, mutations in which are associated with the skeletal phenotypes Frontometaphyseal dysplasia, Otopalatodigital, and Melnick-Needles syndrome, with X-linked periventricular nodular heterotopia and FG syndrome (Omim, 305450). Review of the phenotypes of those with the mutation in this family shows increased severity of the cardiac phenotype and associated skeletal features in affected males, consistent with X-linked inheritance. CONCLUSIONS: Although congenital heart disease is reported in families with mutations in FLNA, this is the first report of individuals being affected by Ebstein anomaly because of a mutation in this gene and details the concurrent skeletal phenotype observed in this family.

Anomalía de Ebstein «like¼ en doble entrada ventricular. Una rara asociación / Ebstein's "like" anomaly ventricular double inlet. A rare association

Resumen: Introducción y objetivos: La asociación de corazones univentriculares con doble entrada y anomalía de Ebstein «like¼ de la válvula auriculoventricular común es extremadamente rara. Se describen 2 corazones con esta asociación. Métodos: Se utilizó el sistema secuencial segmentario que determina el situs auricular, los tipos y modos de conexión auriculoventricular y ventriculoarterial y las anomalías agregadas. Resultados: Ambos corazones presentaron situs solitus auricular, defecto septal auriculoventricular con foramen primum y doble entrada y doble salida con grandes arterias normalmente relacionadas en un ventrículo único. En el primero las 4 valvas auriculoventriculares estuvieron adosadas a la pared ventricular desde la unión auriculoventricular hasta el ápex con auricularización de la entrada y de la porción trabecular y presentó estenosis infundibular y valvular. En el segundo la porción proximal de la válvula auriculoventricular estuvo adosada a la pared ventricular con auricularización pequeña; en su porción distal mostró displasia con nodulaciones fibromixoides y cuerdas tendinosas pequeñas y gruesas y la arteria pulmonar estuvo dilatada. Conclusiones: Ambos corazones forman parte de la conexión auriculoventricular univentricular del sistema secuencial segmentario, cuya precisión diagnóstica muestra su eficacia. Las asociaciones de defectos congénitos en un solo corazón muestran el infinito espectro de las mismas, lo que expande nuestro conocimiento de la cardiología pediátrica.

Abstract: Introduction and objectives: The association of univentricular heart with double inlet and Ebstein's "like" anomaly of the common atrioventricular valve is extremely rare. Methods: Two hearts with this association are described with the segmental sequential system which determine the atrial situs, the types of atrioventricular and ventriculoarterial connections and associated anomalies. Results: Both hearts had atrial situs solitus, and a univentricular heart with common atrioventricular valve, a foramen primum and double outlet ventricle with normal crossed great arteries. In the fiefirst heart the four leaflets of the atrioventricular valve were displaced and fused to the ventricular walls, from the atrioventricular union roward the apex with atrialization of the inlet and trabecular zones and there was stenosis in the infundibulum and in the pulmonary valve. In the second heart the proximal segment of the atrioventricular valve was displaced and fused to the ventricular whith shot atrialization and the distal segment was dysplastic with fibromixoid nodules and tendinous cords short and thick; the pulmonary artery was dilate. Conclusions: Both hearts are grouped in the atrioventricular univentricular connection in the segmental sequential system. The application of this method in the diagnosis of congenital heart disease demonstrates its usefulness. The associations of complex anomalies in these hearts show us the infinite spectrum of presentation of congenital heart disease which expands our knowledge of pediatric cardiology.

[Ebstein's "like" anomaly ventricular double inlet. A rare association]. / Anomalía de Ebstein «like¼ en doble entrada ventricular. Una rara asociación.

INTRODUCTION AND OBJECTIVES: The association of univentricular heart with double inlet and Ebstein's "like" anomaly of the common atrioventricular valve is extremely rare. METHODS: Two hearts with this association are described with the segmental sequential system which determine the atrial situs, the types of atrioventricular and ventriculoarterial connections and associated anomalies. RESULTS: Both hearts had atrial situs solitus, and a univentricular heart with common atrioventricular valve, a foramen primum and double outlet ventricle with normal crossed great arteries. In the fiefirst heart the four leaflets of the atrioventricular valve were displaced and fused to the ventricular walls, from the atrioventricular union roward the apex with atrialization of the inlet and trabecular zones and there was stenosis in the infundibulum and in the pulmonary valve. In the second heart the proximal segment of the atrioventricular valve was displaced and fused to the ventricular whith shot atrialization and the distal segment was dysplastic with fibromixoid nodules and tendinous cords short and thick; the pulmonary artery was dilate. CONCLUSIONS: Both hearts are grouped in the atrioventricular univentricular connection in the segmental sequential system. The application of this method in the diagnosis of congenital heart disease demonstrates its usefulness. The associations of complex anomalies in these hearts show us the infinite spectrum of presentation of congenital heart disease which expands our knowledge of pediatric cardiology.

Natural Course of Adult Ebstein Anomaly When Treated according to Current Recommendation.

The objectives of this study were to assess the clinical outcomes of adults with Ebstein Anomaly (EA) according to their treatment modalities. All adult EA patients diagnosed between October 1994 and October 2014 were retrospectively evaluated by medical record review. Total 60 patients were categorized into 3 groups according to their treatment strategy, i.e. non-operative treatment (Group I, n = 23), immediate operative treatment (Group II, n = 27), and delayed operative treatment (Group III, n = 10). A composite of major adverse cardiac and cerebrovascular events (MACCE) and factors associated with MACCE were assessed in each treatment group. MACCE occurred in 13.0% patients in Group I, 55.6% patients in Group II and 50% in Group III (P = 0.006). Event free survivals at 5 years were 90% in Group I, 52.7% in Group II, 50.0% in Group III (P = 0.036). Post-operatively, most patients showed improvement on clinical symptoms. However, event free survival rate was lower in patients with operation compared to those with non-operative treatment (58.7% vs. 90.9%; P = 0.007). Major arrhythmic event occurred more frequently even after surgical ablation (50.0% vs. 20.0%; P = 0.034). Re-operation was more frequent in patients underwent delayed surgery compared to those with immediate surgery (50.0% vs. 18.5%; P = 0.001). Current guideline to decide patient's treatment strategy appeared to be appropriate in adult patients with EA. However, surgical ablation for arrhythmia was not enough so that concomitant medical treatment should be considered. Therefore, attentive risk stratification and cautious decision of treatment strategy by experienced cardiac surgeon are believed to improve clinical outcome.

Morphologic and functional abnormalities in patients with Ebstein's anomaly with cardiac magnetic resonance imaging: Correlation with tricuspid regurgitation.

PURPOSE: The aim of this study was to assess the correlations of functional and dimensional parameters with the severity of tricuspid regurgitation in patients with Ebstein's anomaly (EA) by using cardiac magnetic resonance (CMR) imaging. MATERIALS AND METHODS: Thirty-three patients with EA without previous cardiac surgery and 25 normal individuals were recruited and underwent both cardiac MR imaging and preoperative transthoracic echocardiography. The left ventricular (LV) functional parameters and dimensions of the right ventricle (RV) and LV were measured using 3.0-T cardiac MR imaging. Tricuspid regurgitation severity grading was estimated by echocardiography. The functional and dimensional parameters were compared between EA patients and controls using independent sample t-tests. Spearman's rank correlation was used to determine the correlations between the functional and dimensional parameters and tricuspid regurgitation. Receiver operating characteristic (ROC) analysis was used to predict tricuspid regurgitation severity using individual functional and dimensional parameters. RESULTS: Statistical analysis revealed significant differences in the functional and dimensional parameters between EA patients and controls. Within the EA group, tricuspid valve regurgitation negatively correlated well with the left ventricular ejection fraction (LVEF) (r=-0.558, p=0.001). The ratio of the right ventricular (functional right ventricle) end-diastolic dimension to the left ventricle end-diastolic dimension (RVEDD/LVEDD) in EA patients also correlated well with the severity of tricuspid valve regurgitation (r=0.492, p=0.004). Moreover, ROC analysis revealed that high sensitivity and specificity were obtained for predicting the severity of tricuspid valve regurgitation with LVEF (78.3%, 90.0%) and RVEDD/LVEDD (78.3%, 94.3%). CONCLUSION: In EA patients, the left and right ventricular functional and dimensional parameters from MRI correlated well with tricuspid regurgitation, which helped predict the severity of EA.

More than valve repair: Effect of cone reconstruction on right ventricular geometry and function in patients with Ebstein anomaly.

BACKGROUND: Cone reconstruction is a novel surgical procedure for tricuspid valve repair in Ebstein anomaly. This study examined the effect of cone reconstruction on right ventricle (RV) geometry, function, and synchronization. METHODS: Twenty-one patients (4-49 year-old) underwent cone reconstruction were enrolled, and matched with healthy individuals. Pre-operative and follow-up echocardiography was performed along with cardiac magnetic resonance (CMR) imaging in 18 patients. A new parameter, tricuspid annular movement synchronicity index (TAMSI), was used to describe global synchronization of RV in the annular plane. TAMSI was defined as standard deviation of the systolic excursion of the hinge points of the three leaflets divided by their average value. RESULTS: After 9.1 (range 1-12) months follow-up, there were no deaths; tricuspid regurgitation was reduced from moderate/severe to mild or less in 95.2% of patients. In 18 patients with both pre and post CMR data, functional RV volume decreased after repair (134.3 ± 58.3 ml/m(2) to 96.6 ± 29.6 ml/m(2); P=0.001), while ejection fraction was not significantly altered (38.2 ± 9.2% to 36.5 ± 8.5%; P=0.357). TAMSI was significantly reduced after surgery, from 0.613 ± 0.220 to 0.169 ± 0.088 (P<0.001). A value similar to the normal control (0.181 ± 0.081) indicated more synchronized RV movement pattern. CONCLUSIONS: Cone reconstruction yielded good short-term survival in Ebstein anomaly. It reduced functional RV volume, improved RV global synchronization, and restored RV geometry. As such, it may improve RV performance and long-term prognosis. In addition, our described TAMSI proved to be a useful adjunct to postoperative assessments.

Da Silva's cone repair for Ebstein's anomaly: effect on right ventricular size and function.

OBJECTIVES: Da Silva's cone repair is a novel technique for surgical reconstruction of the tricuspid valve and the right ventricle (RV) in Ebstein's anomaly. The technique consists of extensive leaflet mobilization, longitudinal plication of the atrialized ventricle and cone-shaped reconstruction of the tricuspid valve, allowing for leaflet-to-leaflet coaptation. We evaluated the influence of Da Silva's cone repair on tricuspid competency, right ventricular size and function. METHODS: From February 2010 until July 2013, 20 patients (median age 30.0 years, range 6.6-68.3 years) underwent Da Silva's cone repair. A 4- to 6-mm interatrial communication was left in all patients. Echocardiographic studies and magnetic resonance imaging (MRI) before and after the repair were evaluated. RESULTS: Median follow-up was 11 (0.5-36) months. There were 2 early deaths and no late death. Echocardiography at follow-up revealed mild or absent tricuspid regurgitation in 16 patients. Two patients showed moderate tricuspid insufficiency. MRI studies showed that the mean functional RV end-diastolic volume decreased after surgery (pre 334 [135-656] ml; post 175 [115-404] ml, P < 0.001). The mean RV ejection fraction decreased (pre 47 ± 10%; post 35 ± 13%, P = 0.001), and the mean antegrade net stroke volume of the RV increased (pre 65 ± 28 ml; post 75 ± 30 ml, P = 0.057). CONCLUSIONS: Da Silva's cone repair for Ebstein's anomaly creates excellent valve function in all patients. Consecutively, the size of the RV decreases and the antegrade net stroke volume increases 6 months after the operation.

[Structural features of cardiomyocytes in the atrialized right ventricle in patients with Ebstein anomaly].

Intraoperative biopsy specimens were used to analyze the sizes and ultrastructure of cardiomyocytes (CMC) in the atrialized right ventricle (ARV) versus those in the right ventricle (RV) and right atrium (RA) in 32 patients aged 9 months to 57 years with Ebstein anomaly. The mean CMC diameter in ARV, RV, and RA did not differ significantly in patients less than 10 years; that was equal in ARV and RV, but higher in RA in patients over 10 years of age. No specific atrial granules were found in the CMC of ARV, RV, and RA; but T system channels and multiple intercalated disks were encountered significantly more frequently than in the RA cells. Individual CMCs showed abnormal myofibrils with specific accumulations of Z-band material (more commonly in RA), as well as nuclear displacement under the sarcolemma (more commonly in ARV and RV). Conclusion. ARV cardiomyocytes preserve ventricular specificity in patients with Ebstein anomaly.

Anatomic repair of Ebstein's anomaly with isolated anterior leaflet downward displacement.

OBJECTIVE: Ebstein's anomaly with isolated anterior leaflet downward displacement is rare and has not been reported in the literature to our knowledge. In this article, our experience of the surgical treatment in 6 cases with this anomaly is reported. METHODS: From November 2005 to November 2013, 6 patients (3 male, 3 female, aged 2-39 years) with Ebstein's anomaly and isolated anterior leaflet downward displacement received anatomic repair at the First Hospital of Tsinghua University. The diagnosis was made by echocardiography and confirmed at operation. Surgery was performed under hypothermic cardiopulmonary bypass. Surgical technique included excision of a huge atrialized portion of the right ventricle located in the anterior wall of the heart; reconstruction of the right ventricle by repairing the "V"-shaped defect left by the excision procedure; detachment, repair, and reimplantation of the anterior leaflet; and reconstitution of the right atrioventricular connection. Intraoperative transesophageal echocardiography was used to evaluate the position, morphology, structure, and function of the tricuspid valve, as well as right ventricular function. RESULTS: Five patients were discharged uneventfully, and 1 patient died of postoperative pneumonia. At follow-up from 2 months to 7 years, no notable tricuspid valve regurgitation or stenosis was found and all patients were maintaining a normal lifestyle. The 27-year-old female patient gave birth to a normal infant uneventfully 3 years after surgery. CONCLUSIONS: Ebstein's anomaly with isolated anterior leaflet downward displacement is a complex and severe abnormality, and has several unique anatomic and clinical features and specific surgical requirements. Preoperative diagnosis can be made by clinical investigation and echocardiography. Excellent results can be achieved by anatomic correction.

Complex Ebstein's malformation: defining preoperative cardiac anatomy and function.

INTRODUCTION: Ebstein's malformation is a congenital malformation of the tricuspid valve and right ventricle, with a highly variable morphology, and clinical presentation, accounting for less than 1% of all congenital heart diseases, and about 40% of congenital malformations of the tricuspid valve. METHOD: Systematic review of English language literature regarding the morphogenesis and progress of imaging techniques, especially echocardiography and cardiac magnetic resonance imaging, in the preoperative planning of Ebstein's malformation, using the MEDLINE database with the PubMed Entre interface. RESULTS: Technological developments of the recent years, with 3D echocardiographic and cardiac magnetic resonance imaging evolution, have resulted in better understanding of the malformed tricuspid valve and right ventricle in vivo anatomy. Through a better understanding of Ebstein's malformation, there is a continuous trend of surgical techniques favoring tricuspid valve sparing procedures, with a constant decrease in early and late postoperative mortality. CONCLUSIONS: Although imaging methods to investigate Ebstein's malformation have continuously evolved, standardization of assessment protocols by 3D echocardiographic imaging, speckle tracking imaging, and cardiac magnetic resonance imaging is required.

Right ventricular exclusion and univentricular palliation for failed one and a half ventricle repair for Ebstein's anomaly.

A 20 year-old male was diagnosed to have Ebstein's anomaly with severe right ventricular dysfunction. He was taken up for 1.5 ventricle repair. Post procedure, there was difficulty in weaning from cardiopulmonary bypass due to progressive right ventricular dilatation compromising the systemic output. An atrial septectomy did not help. Progressive right ventricular dilatation compressing the left ventricle, demonstrated on transoesophageal echocardiogram, prompted us to perform a right ventricular exclusion and univentricular palliation. The patient was successfully weaned off cardiopulmonary bypass and had a smooth postoperative recovery. Judicious use of right ventricular exclusion and univentricular palliation could be an effective bailout strategy in difficult surgical scenarios in Ebstein's anomaly.

Ebstein's anomaly of the tricuspid valve: the cone repair.

Ebstein's anomaly is a cardiac malformation affecting the tricuspid valve and right ventricle with a wide range of anatomic and pathophysiologic presentations. The cone repair technique is described in detail, as applied to several types of this complex congenital heart disease. The importance of extensive mobilization of displaced and tethered tricuspid leaflets to permit a good leaflet-to-leaflet coaptation after the cone construction is highlighted. This technique was performed in 100 patients with a hospital mortality rate of 3.0%, good clinical outcome, and no need for tricuspid valve replacement. Echocardiograph results showed good anatomic and functional tricuspid valves at immediate and long-term postoperative follow-up.

Prospective comparison of echocardiography versus cardiac magnetic resonance imaging in patients with Ebstein's anomaly.

Ebstein's anomaly (EA) is primarily diagnosed by echocardiography. The purpose of this study was to compare echocardiography and magnetic resonance imaging (MRI) in EA. Data from cardiac MRI and echocardiography were prospectively collected from 16 patients with EA. Imaging data also were compared with intraoperative findings. Information provided by MRI and echocardiography were comparable for left ventricular size and function, tricuspid valve repairability, qualitative assessment of right-sided cavities, and visibility of septal and anterior tricuspid valve leaflets. The posterior tricuspid valve leaflet and tricuspid valve fenestrations were better visualized with MRI; associated heart defects were equally recognized, apart from small shunts that tended to be more readily diagnosed with echocardiography. Quantification of right-cavity size and right ventricular ejection fraction was possible only with cardiac MRI. The degree of tricuspid valve regurgitation was underestimated by echocardiography (2 patients) and by MRI (4 patients) when compared with intraoperative assessment. When evaluating EA, echocardiography and MRI provide complementary data. For visualization of the posterior tricuspid valve leaflet and quantitative assessment of right ventricular size and function, MRI is preferable. For appropriate risk stratification in EA, both MRI and echocardiography should be performed before cardiac surgery.

Mirror syndrome: a systematic review of fetal associated conditions, maternal presentation and perinatal outcome.

INTRODUCTION: Mirror syndrome, also referred to as Ballantyne's syndrome, is normally defined as the development of maternal edema in association with fetal hydrops. The incidence of mirror syndrome is low and few cases have been published. We describe a case report in association with fetal Ebstein anomaly and provide a systematic review on the fetal associated conditions, maternal presentation and perinatal outcome reported for mirror syndrome. DATA SOURCES: A PubMed database search was done until December 2008 (English, French or German) without any restriction of publication date or journal, using the following key words: Ballantyne syndrome, Mirror syndrome, Triple edema, Pseudotoxemia, Maternal hydrops syndrome, Pregnancy toxemia, Acute second trimester gestosis, and Early onset preeclampsia. Reported cases were considered eligible when fetal associated conditions, maternal symptoms and fetal outcome were clearly described. RESULTS: Among 151 publications a total of 56 reported cases satisfying all inclusion criteria were identified. Mirror syndrome was associated with rhesus isoimmunization (29%), twin-twin transfusion syndrome (18%), viral infection (16%) and fetal malformations, fetal or placental tumors (37.5%). Gestational age at diagnosis ranged from 22.5 to 27.8 weeks of gestation. Maternal key signs were edema (80-100%), hypertension (57-78%) and proteinuria (20-56%). The overall rate of intrauterine death was 56%. Severe maternal complications including pulmonary edema occurred in 21.4%. Maternal symptoms disappeared 4.8-13.5 days after delivery. DISCUSSION: Mirror syndrome is associated with a substantial increase in fetal mortality and maternal morbidity.