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At least 19 recordsLinked to original sources
PubMed1998

[Familial occurrence of Ebstein anomaly].

Ebstein anomaly is a rare congenital disease which affects location, structure and mobility of the tricuspid valve, and right atrium and ventricle. Although most cases are sporadic, familial occurrence has been reported. We report 2 brothers born with Ebstein anomaly. The parents were first degree cousins and there were 8 other children. 2 daughters were born with other congenital heart anomalies, 1 with ventricular septal defect and the other with severe pulmonary artery stenosis. We suggest that in some families, Ebstein anomaly is an autosomal dominant disease with different expression in the sexes.

Adolescent↗
PubMed2002

[Palliative methods of surgical treatment of Ebstein anomaly].

Ebstein's anomaly--is a complex disease of the heart, the main components of which are dysplasia and tricuspid valve malposition, causing hemodynamical disorders. Principal method of correction of this anomaly is surgical one. There are many surgical methods of correction of the anomaly proposed: tricuspid valve prosthesis, plastic operation, palliative methods. Indications for surgical treatment of Ebstein's anomaly is cyanosis, the blood flow insufficiency, severe disorders of the heart rate.

Anastomosis, Surgical↗
PubMedDate not supplied

Cine-computed tomography of Ebstein anomaly.

A case of Ebstein anomaly is reported, and the diagnostic potential of cine-CT in assessing the magnitude of the anatomic changes and the presence of right to left intracardiac shunting is evaluated.

Cineradiography↗
PubMed2003

Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9.

BACKGROUND: Ebstein anomaly of the tricuspid valve is a congenital cardiac malformation characterised by downward displacement of the attachment of the septal and posterior leaflets of the tricuspid valve. Canine tricuspid valve malformation (CTVM) is morphologically similar to Ebstein anomaly; familial occurrence of CTVM has been described. Several observations suggest a genetic cause but most cases appear to be sporadic. METHODS: Three purebred Labrador Retriever kindreds enriched for CTVM underwent clinical examination and echocardiography. DNA was extracted from whole blood. Genotyping was carried out using polymorphic repeat markers with an average spacing of 15 cM and polymorphic information content of 0.74. RESULTS: Pedigree analysis identified CTVM segregating as an autosomal dominant trait with reduced penetrance. Genome wide linkage analysis in one kindred identified a CTVM susceptibility locus on dog chromosome 9 (CFA9) with a maximum multipoint lod score of 3.33. The two additional kindreds showed a conserved disease haplotype. CONCLUSIONS: This study identifies a CTVM susceptibility locus on CFA9 and a founder effect in apparently unrelated Labrador Retriever kindreds. These results provide the basis for a positional candidate cloning effort to identify the CTVM disease gene. Identification of the CTVM gene will permit mutation screening of patients with Ebstein anomaly, which should provide additional insights into the genetic programmes of valve development.

Animals↗
PubMed2006

Repair of Ebstein anomaly: early and mid-term results.

BACKGROUND: Ebstein anomaly is the downward displacement and adherence of dysplastic septal and posterior tricuspid leaflets into the right ventricle, thereby dividing the ventricle into a so-called atrialized chamber and a functionally reduced right ventricle. We evaluated the early and mid-term results of primary repair of Ebstein anomaly in adult patients. METHODS: Eight consecutive patients undergoing repair of Ebstein anomaly with Danielson technique at Imam Khomeini Medical Center, Tehran, Iran from January 1997 through July 2004 were evaluated. Functional and echocardiographic parameters were studied both preoperatively and postoperatively, as well as demographic status and adverse events. RESULTS: Hospital mortality occurred in one patient because of right ventricular failure. The average follow-up period was 5.3 +/- 3.4 years (median: 3.8 years). The actuarial survival rate was 85.7 +/- 4.8% at 7 years. During the follow-up, six patients were in New York Heart Association functional class I, and one patient was in class II. None of the patients required reoperation related to their Ebstein repair. One patient demonstrated atrioventricular dissociation perioperatively; however, only one patient required permanent pacemaker insertion later. One patient had minimal (1+) regurgitation, with the jet localized along the anterior part of the ventricular septum. Two patients had residual tricuspid valve insufficiency (2+) on echocardiography. CONCLUSION: Ebstein repair has a good functional and hemodynamic outcome in adult patients.

Adolescent↗
PubMed2006

Current surgical therapy for Ebstein anomaly in neonates.

OBJECTIVE: Neonates with profound heart failure resulting from Ebstein anomaly have historically had poor outcomes. We report our institutional experience with the surgical management of Ebstein anomaly in severely symptomatic neonates. METHODS: A retrospective review of all patients (n = 16) undergoing neonatal intervention for Ebstein anomaly between 1992 and 2005 has been carried out. The indications for operation were overt heart failure, cyanosis, and acidosis associated with tricuspid regurgitation, depressed right ventricular function, and severe cardiomegaly. The magnitude of cardiac enlargement was assessed by cardiothoracic ratio and Great Ormond Street ratio (area of right atrium + atrialized right ventricle/area of functional left atrium + left ventricle). The operative strategy was first to assess for the possibility of tricuspid valve repair with or without right ventricular outflow tract reconstruction. If this was not feasible, then right ventricular exclusion was performed by oversewing the tricuspid valve with a pericardial patch. A reduction atrioplasty was done and, depending on the extent of the atrialized portion of the right ventricle, plication was performed. A modified Blalock-Taussig shunt provided pulmonary blood flow. This univentricular approach (Starnes procedure) evolved to include a fenestration in the tricuspid valve patch to allow for right ventricular decompression. Analysis included overall and group-specific survival as well as the testing of perioperative clinical, morphologic, and surgical variables for correlation with mortality and morbidity. RESULTS: Mean age and weight at operation were 8 +/-10 days and 3.1 +/- 0.4 kg. Tricuspid valve repair was undertaken in 3 patients with 1 requiring conversion to right ventricular exclusion 3 months after the initial operation. In those with right ventricular exclusion, the tricuspid valve patch was fenestrated in 10 and nonfenestrated in 3. One patient had heart transplant as the initial procedure. There were 5 hospital deaths (31%) and no late deaths among the survivors. Survival in the cohort with a fenestrated tricuspid valve patch was 80% (8/10) versus 33% (1/3) for the nonfenestrated group. This difference did not reach statistical significance, although the trend seems clinically important. There was no difference in the cardiothoracic ratio (0.82 fenestrated vs 0.84 nonfenestrated: P = .802) or the Great Ormond Street ratio (1.2 fenestrated vs 1.02 nonfenestrated: P = .477) between the two groups. Among the 9 survivors of right ventricular exclusion, 3 have had completion of their Fontan, and all 9 have undergone a bidirectional Glenn procedure. All operations including homograft placement in the right ventricular outflow tract, whether during repair or during right ventricular exclusion, ended in death. CONCLUSION: Right ventricular exclusion with a fenestrated tricuspid valve patch combined with right atrioplasty and right ventriculoplasty and a Blalock-Taussig shunt (Starnes procedure) has provided effective palliation for neonates presenting with critical Ebstein anomaly and a tricuspid valve that cannot be repaired.

Cardiac Surgical Procedures↗
PubMed2005

Left heart lesions in patients with Ebstein anomaly.

OBJECTIVE: To identify the incidence of left heart abnormalities in patients with Ebstein anomaly, recognizing that left-sided lesions in this patient group have been overlooked. PATIENTS AND METHODS: According to the echocardiography database at the Mayo Clinic in Rochester, Minn, 106 consecutive patients with Ebstein anomaly underwent echocardiography between July 1, 2001, and February 28, 2003. Clinical data as well as electrocardiographic and echocardiographic reports and images were reviewed. RESULTS: Ebstein anomaly was severe in 76 patients (72%). Previous tricuspid valve surgery was reported in 46 patients (43%), and previous closure of an atrial septal defect or patent foramen ovale was reported in 34 patients (32%). Left ventricular (LV) myocardial changes resembling noncompaction occurred in 19 patients (17.9%), LV systolic dysfunction in 7 patients (7%), LV diastolic dysfunction in 34 (36%) of 95 patients, and LV dilatation in 4 patients (4%). Additional left-sided cardiac lesions included mitral valve prolapse in 16 patients (15%), bicuspid aortic valve in 8 (8%), mitral valve dysplasia in 4 (4%), and ventricular septal defect in 8 (8%). Wolff-Parkinson-White syndrome occurred in 22 patients (21%). The QRS axis tended to be different in LV noncompaction with a mean +/- SD axis of 12 degrees +/- 74 degrees vs 36 degrees +/- 66 degrees overall (P=.08). Otherwise, there were no differences in clinical or surgical data between the groups with normal and abnormal LV myocardium. CONCLUSIONS: In patients with Ebstein anomaly, left heart abnormalities involving the myocardium or valves were observed in 39% of patients. Ebstein anomaly should not be regarded as a disease confined to the right side of the heart.

Adolescent↗
PubMed2000

The adult patient with Ebstein anomaly. Outcome in 72 unoperated patients.

Knowledge of the long-term outcome in unoperated adult patients with Ebstein anomaly is limited, and the therapeutic approach is still controversial. We studied unoperated adult patients with Ebstein anomaly to define the patterns of presentation, anatomic characteristics, outcome, and predictive factors for survival. Seventy-two unoperated survivors of Ebstein anomaly aged over 25 years attended from 1972 to 1997 were reviewed and followed-up from 1.6 to 22.0 years. Patients were classified in 3 groups of severity according to the echocardiographic appearance of the septal leaflet attachment of tricuspid valve. The mean age at diagnosis was 23.9 +/- 10.4 years, and the most common clinical presentation was an arrhythmic event (51.4%). There were 30 (42%) deaths, including 6 from arrhythmia, 12 related to heart failure, 7 sudden, 2 unrelated, and 3 unascertained. According to Cox regression analysis, predictors of cardiac-related death included age at diagnosis (hazard ratio 0.89 for each year of age, 95% confidence intervals CI[ 0.84-0.94), male sex (3.93, 95% CI, 1.50-10.29), degree of echocardiographic severity (3.34, 95% CI, 1.78-6.24), and cardiothoracic ratio > or = 0.65 (3.57, 95% CI, 1.15-11.03). During follow-up, morbidity was mainly related to arrhythmia and refractory late hemodynamic deterioration. The magnitude of tricuspid regurgitation, cyanosis, and the New York Heart Association (NYHA) functional class at time zero were significant risk factors according to the univariate analysis, but not after multivariable confrontation. The results of this study suggest that pattern of presentation, clinical course, and prognosis of unoperated adult patients with Ebstein anomaly are influenced by several factors. Although the initial symptoms are usually mild and commonly related to supraventricular arrhythmias, these are not associated with the long-term outcome. The severity of the morbid anatomy was the main determinant of survival only in extreme cases, but not in those with mild or moderate deformations, which are more common in adults. Other independent risk factors such as cardiothoracic ratio, sex, age at diagnosis, and the echocardiographic evaluation may help to determine the therapeutic approach. Adult patients with Ebstein anomaly should not be considered as a simple low-risk group.

Adult↗
PubMed2000

[Pre and Postoperative evaluation of the incidence of arrhythmia in patients undergoing corrective intervention for Ebstein anomaly].

BACKGROUND: Patients with Ebstein's anomaly frequently have troublesome cardiac arrhythmias. In particular, this malformation is the most common congenital defect associated with the Wolff-Parkinson-White syndrome. The aim of this study was to investigate the postoperative evolution of arrhythmias without the aid of any surgical techniques for arrhythmia. METHODS: Between 1980 and 1999, 48 patients (22 males, 26 females), with a preoperatively documented arrhythmia, underwent an operation for the correction of Ebstein's anomaly at the Hôpital Broussais. Of these, 24 had paroxysmal supraventricular tachycardia, 12 had atrial fibrillation or flutter, 8 had Wolff-Parkinson-White syndrome, 1 had non-sustained ventricular tachycardia, and the remaining 3 patients had atrioventricular block. RESULTS: The operative mortality was 8% (4/48). After operation 46% (20/44) of the patients regained permanent sinus rhythm (20/44 vs 2/48, p < 0.01), supraventricular tachyarrhythmia occurred in 16% of the patients (7/44), 8 patients (18%) had atrial fibrillation, and ventricular preexcitation syndrome was present in 3 patients (7%). The incidence of pacemaker implantation for complete heart block was 11% (5/44). Follow-up was achieved in 95% of patients (40/44) who survived the operation and the perioperative period. The mean follow-up was 63 +/- 54 months (range 4-226 months). During this time there were 6 additional deaths. Eight patients continued to have symptomatic arrhythmias (2 had paroxysmal supraventricular tachycardia, 6 had atrial fibrillation), but 55% of patients (20/36) reported no symptoms of arrhythmia (20/36 vs 2/48, p < 0.01). CONCLUSIONS: Surgical repair improves the quality of life of these patients by reducing the incidence of arrhythmias, in fact less than one sixth of patients continued to have postoperative symptomatic arrhythmias. This can be explained by the interruption of accessory pathways that seem to be a major cause of arrhythmia in Ebstein's anomaly.

Adolescent↗
PubMedDate not supplied

[Ebstein anomaly].

We evaluated the results for primary repair of Ebstein anomaly in 61 patients, both adults and children. The records were reviewed of patients undergoing repair of Ebstein anomaly at the Congenital Heart Surgery Service of the National Institute of Cardiology "Ignacio Chávez" from January 1993 to August 2003. Functional, demographic, and echocardiographic parameters were studied both preoperatively and postoperatively, along with functional status and adverse events. The repair technique involved vertical plication of the atrialized ventricle and valve leaflet reimplantation after clockwise rotation or replacement of tricuspid valve. Ebstein repair has good functional outcomes in patients despite residual tricuspid regurgitation, likely because of reduction in right ventricular volume loading and relative annular and ventricular plasticity. Intraoperative radiofrequency ablation represents an important adjunctive treatment for intractable arrhythmias, which may now represent relative indications for operative intervention.

Adolescent↗
PubMed2005

Ebstein anomaly and duplication of the distal arm of chromosome 15: report of two patients.

Ebstein anomaly of the tricuspid valve is an uncommon congenital heart defect. We report two unrelated patients with Ebstein anomaly and duplication of the distal long arm of chromosome 15 (15q22 --> qter and 15q24 --> qter). Duplication of 15q is a well-described phenotype that includes congenital heart defects, and these are the first cases with Ebstein anomaly. Duplication of 15q likely affects the early morphogenesis of cardiac structures, including the normal formation of the tricuspid valve.

Chromosome Aberrations↗
PubMed1998

Ebstein anomaly associated with rearrangements of chromosomal region 11q.

Ebstein anomaly (EA) is a relatively uncommon congenital heart defect and it is very rarely associated with a chromosomal anomaly. We report two distinct rearrangements of the chromosomal region 11q arm in two unrelated patients with Ebstein anomaly, renal malformation, minor anomalies, and the Pierre Robin sequence. The first patient had an interstitial deletion of chromosome 11 [46,XY,del(11)(11q21q23), and the other had a tertiary trisomy of chromosome 11qter (47,XX,+der(22)t(11;22)(q23;q11.2) Its association with either a chromosome 11q deletion or a duplication in some individuals suggests that a rearrangement of the 11q region is likely to cause a shift of the individuals' underlying liability to develop EA above a certain threshold.

Chromosome Aberrations↗
PubMed1992

Ebstein anomaly: report of a familial occurrence and prenatal diagnosis.

The Ebstein anomaly is a rare congenital heart disease involving the position and structure of the tricuspid valve. Although most cases are sporadic, familial occurrence has been documented. We report on 2 sisters, born to consanguineous parents, who were diagnosed prenatally with severe Ebstein anomaly.

Adult↗
PubMed2006

[Cardiopulmonary exercise test in the evaluation of exercise capacity in patients with Ebstein anomaly and patent ostium secundum atrial septal defect aged over 30 years].

UNLABELLED: There are few data available on applying the cardiopulmonary exercise test for evaluation of cardiac exercise capacity in adult patients with congenital heart diseases. The aim of the study was to perform this test in adults with Ebstein anomaly and patients with patent ASD II (atrial septal defect) and determination of potential relationships between these parameters and echocardiographically assessed hemodynamic indices. MATERIAL AND METHODS: Twenty patients with Ebstein anomaly mean aged 40.3 +/- 12.3 years were studied. Control group consisted of 19 individuals at mean age of 39.9 years. Echocardiography was performed for the evaluation of severity of the disease. Additionally, 36 patients with ASD II were included, mean age 44.7 +/- 8.2 years. The control group consisted of 25 individuals at mean age of 45.6 years. Maximum exercise treadmill test was carried out and resting and exercise spirometry. RESULTS: Ebstein anomaly. Maximum oxygen uptake, minute ventilation, maximum heart rate and blood pressure at peak exercise were significantly lower in study patients than in control group. VE/VCO2 was increased. No differences were observed between groups with respect to spirometric parameters. Oxygen uptake decreased along with the severity of the disease. ASD II. Maximum oxygen uptake, minute ventilation, maximum heart rate and blood pressure at peak exercise and spirometric parameters were significantly lower in study patients than in control group. Significant negative correlations were shown for VO2 (maximum oxygen uptake) and Qp:Qs (pulmonary to systemic flow ratio) (p = 0.004), maximum heart rate - HRmax and HRmax% and RV (end-diastolic right ventricular diameter) (p = 0.02 i p = 0.01), RV and systolic pressure at peak exercise (p = 0.03), obstruction marker FEV1 and RV (p = 0.04) and between RVSP (right ventricular end-systolic pressure) (p = 0.01). Negative correlation was observed between RQ (respiratory quotient) and RVSP (p = 0.004), and positive correlation between HRmax and VO2 (p = 0.005). CONCLUSIONS: The exercise capacity of adults with Ebstein anomaly and those with patent ASD II is significantly reduced. It decreases along with the echocardiographic severity of the disease in Ebstein anomaly patients and it seems to result from the right ventricular volume overload in patients with patent ASD II.

Abnormalities, Multiple↗
PubMed1984

Duplication of the tricuspid valve with Ebstein anomaly.

Duplication of the tricuspid valve is a rare congenital cardiac anomaly. We experienced one infant case with Ebstein anomaly, who died at seven months of age. At autopsy, the clinical diagnosis was confirmed, and also the patient was found to have double tricuspid valve orifices, each of which were accompanied by subvalvular tension apparatuses. Tricuspid valve leaflets seen in Ebstein anomaly are known to have fenestrations as accessory orifices for some instances, but this case is unique and interesting in that each valve orifice has well-developed chordae tendinae and papillary muscles below it.

Ebstein Anomaly↗
PubMedDate not supplied

Sonographic features of Ebstein anomaly associated with hydrops fetalis: a report of two cases.

Ebstein anomaly, an abnormally low insertion of the tricuspid valve, occurs in 0.5% of patients with congenital heart disease. In rare cases, this disorder may be complicated by congestive heart failure in utero and hydrops fetalis. This article reports the prenatal sonographic features of 2 cases of Ebstein anomaly associated with hydrops fetalis. In both cases, fetal echocardiography was performed at 34 weeks of gestation. The 4-chamber view showed fetal cardiomegaly and pericardial effusion. In both cases, the annular attachment of the tricuspid valve leaflets was difficult to demonstrate and so distal that it could easily be confused with papillary muscle in the right ventricular wall. Poor fetal cardiac hemodynamics with severe tricuspid regurgitation was demonstrated by pulsed Doppler imaging. Pulmonary regurgitation was also clearly demonstrated in both cases. Preterm delivery with stillbirth occurred in both cases. Autopsies confirmed the very distal displacement of the tricuspid valve insertion, close to the apex, and enlargement of the right atrium.

Abnormalities, Multiple↗
PubMed2004

Supraventricular tachyarrhythmias in Ebstein anomaly: management and outcome.

OBJECTIVE: This study was undertaken to review the role of electrophysiology testing and to determine the early and late results of medical and surgical management of supraventricular tachyarrhythmias in Ebstein anomaly. METHODS: We reviewed 130 patients between 1990 and 2001 with Ebstein anomaly and history of tachyarrhythmia with a median age of 25 years (mean age 27.5 years); 106 underwent electrophysiologic testing and 24 had documented atrial flutter or fibrillation. We excluded 21 patients: negative results of testing (n = 18), ventricular tachycardia (n = 2), and junctional tachycardia (n = 1). The remaining 109 patients had more than one mechanism: accessory pathway-mediated tachycardia (n = 49), atrioventricular nodal reentrant tachycardia (n = 10), and atrial flutter/fibrillation (n = 70). RESULTS: Eighty-three patients underwent at least one arrhythmia procedure combined with surgery for Ebstein anomaly. Early mortality was 4.8%. Forty-one patients underwent surgical ablation of an accessory pathway without recurrent accessory pathway-mediated tachycardia at a mean follow-up of 48 months. Seven patients underwent surgical perinodal cryoablation for atrioventricular nodal reentrant tachycardia without recurrence at a mean follow-up of 57 months. Forty-eight patients underwent surgical intervention for atrial flutter or fibrillation (right-sided maze procedure, n = 38, and cryoablation of the atrial isthmus, n = 10). Freedom from recurrent atrial flutter or fibrillation was 75% at a mean follow-up of 34 months. CONCLUSION: Concomitant arrhythmia procedures can be performed without increase in early mortality and should be added to Ebstein repairs for all patients who have supraventricular tachyarrhythmias. Surgical procedures for accessory pathway-mediated tachycardia and atrioventricular nodal reentrant tachycardia give excellent (100%) freedom from recurrence of those arrhythmias. Surgical intervention for atrial flutter/fibrillation yields freedom from late recurrence in 75% of cases.

Adolescent↗