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Left-sided anomalies in Ebstein's malformation of the tricuspid valve
Abstract
A review of 34 autopsied cases with classical Ebstein's malformation of the tricuspid valves revealed 8 cases with left-sided anomalies. Among these, appearing in 1 case each, were aortic atresia and persistent common atrioventricular canal. The latter 2 conditions were dominant clinically. In the remaining 6 cases the left-sided anomalies were not apparent clinically and probably of no functional significance. These conditions were parachute mitral valve, bicuspid aortic valve, cor triatriatum and pulmonary stenosis, cleft mitral valve, stenosis of individual pulmonary veins, and prolapse of mitral valve.
... Although several large series of patients with Ebstein's anomaly have been reported, none has documented both the surgical pathology and the clinical features together [5][6][7][8][9][10][11][12][13]. Only in some smaller series (b35) have the pathologic features been emphasized [14][15][16]. The present study was undertaken to review a large number of surgical specimens from a single institution to describe both the clinical and surgical pathologic features of Ebstein's malformation. ...
... Several left-sided abnormalities were observed in the present study: 13% of patients had mitral valve prolapse and 23% had some degree of mitral regurgitation. In previous studies of patients with Ebstein's malformation, 2-70% had mitral valve prolapse and 0-20% had mitral regurgitation [5,9,15,23,24]. One previous study involving 34 cases noted a lack of correlation between the presence of left-sided abnormalities and the severity of the Ebstein's malformation [15]. Although left ventricular noncompaction was seen less frequently in the current surgical series than in a recent echocardiographic series from our institution (2% vs. 18%, respectively) [5], the echocardiographic series specifically re-reviewed all images for this abnormality, recognizing that it may have been missed on prior evaluation, whereas the current series reviewed the echocardiographic reports for description of noncompaction. ...
... In previous studies of patients with Ebstein's malformation, 2-70% had mitral valve prolapse and 0-20% had mitral regurgitation [5,9,15,23,24]. One previous study involving 34 cases noted a lack of correlation between the presence of left-sided abnormalities and the severity of the Ebstein's malformation [15]. Although left ventricular noncompaction was seen less frequently in the current surgical series than in a recent echocardiographic series from our institution (2% vs. 18%, respectively) [5], the echocardiographic series specifically re-reviewed all images for this abnormality, recognizing that it may have been missed on prior evaluation, whereas the current series reviewed the echocardiographic reports for description of noncompaction. ...
Ebstein's anomaly has been described extensively in autopsy material. However, there have been no large surgical pathology series of this malformation.
To review clinical and surgical pathologic features of a large number of cases of Ebstein's anomaly from a single institution.
Review of medical histories, surgical reports, and surgical pathology reports at the Mayo Clinic (2000-2005).
Among 104 patients, the mean age was 31 years (2 months-79 years), and 57% were female. Common ECG abnormalities included right bundle branch block (58%), first-degree heart block (31%), preexcitation (18%), and nonspecific intraventricular conduction delay/block (15%). Moreover, 74% had inter-atrial communication, 13% mitral valve prolapse, and 5% bicuspid aortic valve. Clinically, all had tricuspid regurgitation (severe in 74%), and 17% of anterior leaflets were fenestrated. No tricuspid valve was calcified. Surgically, tricuspid tissue was removed during replacement in 99% and repair in 1%. The anterior tricuspid leaflet was resected in 98%, and its length was 0.81-9.3 cm/m2 body surface area (mean, 3.3). Characteristically, leaflets were large and had irregular shapes and numerous short cordal or direct myocardial insertions. One tricuspid valve had two papillary fibroelastomas. None had clinical or pathologic evidence of active or healed endocarditis.
Among patients with Ebstein's malformation, tricuspid valve tissue almost exclusively was removed during valve replacement and represented the anterior leaflet. Valve tissue was generally large, irregularly shaped, and associated with insertion of short cords or myocardial stumps. Interestingly, although appreciably deformed, Ebstein valves were not associated with infective endocarditis.
... Besides interatrial communications, other cardiac defects are found in 35 to 39% of patients with Ebstein anomaly [2,13,15,16]. Associated cardiac anomalies include pulmonary stenosis, pulmonary atresia, ventricular septal defect, cardiomyopathies, coarctation of aorta, bicuspid aortic valve, mitral valve prolapse, and other rarer abnormalities [2,13,[15][16][17][18][19]. Among associated cardiac anomalies, right aortic arch is extremely rare and only few such cases have been described in the literature so far [1,[20][21][22]. ...
Ebstein anomaly is a rare congenital heart disease characterized by a varying degree of anatomical and functional abnormalities of tricuspid valve and right ventricle. It often coexists with other congenital cardiac malformations. Up to 79–89% of patients with Ebstein anomaly have interatrial communication in the form of patent oval foramen or atrial septal defect and more than one-third has other types of cardiac malformations. Association between Ebstein anomaly and right aortic arch is extremely rare and only few cases have been described in the literature so far. Much rarer than with other cardiac malformations, Ebstein anomaly is associated with non-cardiac malformations or genetic syndromes. Several cases of association between Ebstein anomaly and Charge syndrome have been reported, nevertheless, Ebstein anomaly accounts for less than 1% of cardiac defects seen in patients with Charge syndrome. In this case report, we present a unique case of a patient with Charge syndrome where both Ebstein anomaly and right aortic arch are present. The diagnosis of Ebstein anomaly and right aortic arch was established prenatally. In the first years of life, the patient did not exhibit any remarkable symptoms. However, over time, deterioration of right ventricle function and increased tricuspid regurgitation were observed, requiring consideration of surgical treatment at the age of five. In addition, delay in physical, motor, and mental development was observed and thus, at the age of five, the patient was consulted by a medical geneticist and a gene panel to test for structural heart defects was ordered. The test showed a mutation in chromodomain helicase DNA binding protein 7 (CHD7) gene, which, along with clinical features, allowed to establish a diagnosis of Charge syndrome. To the best of the authors’ knowledge, this is the first case report of a patient with Charge syndrome, Ebstein anomaly, and right aortic arch that has been described in the literature.
... Ebstein's anamoly mostly involve right sided heart chambers and tricuspid valve primarily. Rarely it has been associated with anomalies of left side of the heart which include mitral stenosis (parachute valve), supravalvular mitral ring, cleft mitral leaflet, mitral valve prolapse and accessory mitral valve tissue 3,4 . ...
Background
Ebsteins anamoly is a rare congenital disorder which is a common cause of congenital tricuspid regurgitation.Rheumatic mitral valve disease is common in developing countries but its association with Ebsteins anamoly is very uncommon.
Case summary
We describe a 22 year old female with complaints of dyspnea and palpitations diagnosed with Ebsteins anamoly and rheumatic mitral stenosis.
Discussion
The hemodynamic consequences and the interplay of these lesions are discussed.
... Commonly associated defects that may also impact cardiac function include atrial septal communications (80-94%) [2,3], right ventricular outflow tract obstruction (functional or anatomic), functional or anatomic pulmonic valve stenosis (38%) [3,4], bicuspid aortic valve, ventricular septal defects, and mitral valve abnormalities [5]. Ebstein anomaly is also associated with left ventricular non-compaction, with one study demonstrating that up to 18% of patients with Ebstein anomaly had left ventricular dysplasia resembling noncompaction [3,[6][7][8]. Patients with congenitally corrected transposition of the great arteries, or L-TGA, may also have abnormal tricuspid valves which can be described as Ebsteinlike [3]. This has been noted in 15-45% of patients with L-TGA ( Fig. 1) [4]. ...
Ebstein anomaly comprises approximately 1% of all congenital heart diseases. It occurs when the tricuspid valve fails to properly delaminate from the right ventricle, resulting in a clinical spectrum of abnormal tricuspid valve morphology and right ventricular dysfunction. Due to the anatomy of the tricuspid valve and right ventricle, as well as associated right- and left-sided pathology, patients are at risk for both right and left ventricular failure and the associated symptoms of each. Ebstein patients are also at risk for atrial arrhythmias, due to the atrial enlargement intrinsic to the anatomy, as well as the presence of potential accessory pathways. Arrhythmias are generally poorly tolerated, particularly in the setting of ventricular dysfunction. Cyanosis may also be present in Ebstein patients, due to the common occurrence of atrial communications, which can exacerbate other symptoms of heart failure. Treatment of heart failure can be through pharmacologic and procedural interventions, depending on the underlying cause of heart failure. While early heart failure symptoms may be treated with medical management, most Ebstein patients will require surgery. Various surgical and catheter-based interventions targeting the tricuspid valve and the atrialized right ventricular tissue have been developed to help treat the underlying cause of the heart failure. The optimal timing of transcatheter and surgical intervention in the Ebstein patient to prevent or treat heart failure needs further study.
... Other associated anomalies include bicuspid or atretic aortic valves, pulmonary atresia or hypoplastic pulmonary artery, subaortic stenosis, coarctation, mitral valve prolapse, accessory mitral valve tissue or muscle bands of the left ventricle, ventricular septal defects (VSD), and pulmonary stenosis [17]. Abnormalities of LV morphology and function, as well as other left-sided heart lesions, may also occur in EA [9,10,[16][17][18][19][20][21][22][23]. Most patients with congenitally corrected transposition of the great arteries have an abnormal systemic TV, which fulfills the criteria for EA in 15-50% of cases. ...
... 6 An interarterial communication is present in 80-94 % of patients with Ebstein's anomaly. Additional anomalies include pulmonary atresia or stenosis, bicuspid or atretic aortic valves, ventricular septal defect, congenital mitral stenosis etc. 7,8,9 In adulthood, patients usually present with decreasing exercise tolerance, progressive cyanosis, arrhythmias or right heart failure. In the presence of interatrial communication, the risk of paradoxical embolisation, brain abscess and sudden death is increased. ...
p>Ebstein’s anomaly is a rare congenital cardiac malformation that affects the tricuspid valve commonly, but its association with pericardial disease is even rarer. We report a case of 25 year old man presented with dyspnoea on exertion and fatigability. A diagnosis of Ebstein’s anomaly with atrial septal defect (ASD) with constrictive pericarditis was confirmed using transthoracic echocardiography. Peroperatively pericardiotomy was done after meticulous dissection of pericardium. Under cardiopulmonary bypass tricuspid valve was replaced with 29 mm Edward life science porcine tissue heart valve with direct closure of ASD. Patient showed excellent symptomatic improvement and was discharged on 7th POD with advice and after 3 months of follow up patient was doing well post operartive day.
Bangladesh Heart Journal 2016; 31(1) : 46-49</p
... 1 Abnormalities of left ventricular morphology and function, as well as other left-sided heart lesions, also occur in Ebstein's anomaly. 14,15,[27][28][29][30] We recently reported features resembling noncompaction in 3 patients with the anomaly. 31 Since then, we have analyzed 106 consecutive patients who had Ebstein's anomaly and found left-sided heart abnormalities in 39%; 18% of these patients had left ventricular dysplasia resembling noncompaction. ...
Ebstein's anomaly is a malformation of the tricuspid valve with myopathy of the right ventricle (RV) that presents with variable anatomic and pathophysiologic characteristics, leading to equally variable clinical scenarios. Medical management and observation is often recommended for asymptomatic patients and may be successful for many years. Tricuspid valve repair is the goal of operative intervention; repair also typically includes RV plication, right atrial reduction, and atrial septal closure or subtotal closure. Postoperative functional assessments generally demonstrate an improvement or relative stability related to degree of RV enlargement, RV dysfunction, RV fractional area change, and tricuspid valve regurgitation.
... Associated cardiac anomalies are common. [2][3][4] The equivalent of Ebstein anomaly in dogs, canine tricuspid valve malformation (CTVM), is characterised by similar hallmarks: tricuspid valve leaflets are thickened and dysplastic with adherence of the septal leaflet to the interventricular septum. [5][6][7] The papillary muscles may be fused and display shortened or absent chordae tendinae. ...
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.
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.
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.
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.
... 1 Abnormalities of left ventricular morphology and function, as well as other left-sided heart lesions, also occur in Ebstein's anomaly. 14,15,[27][28][29][30] We recently reported features resembling noncompaction in 3 patients with the anomaly. 31 Since then, we have analyzed 106 consecutive patients who had Ebstein's anomaly and found left-sided heart abnormalities in 39%; 18% of these patients had left ventricular dysplasia resembling noncompaction. ...
Ebstein’s anomaly is a rare congenital heart disorder occurring in 1 per 200 000 live births and accounting for 1% of all cases of congenital heart disease.2–6 This anomaly was described by Wilhelm Ebstein in 1866 in a report titled, “Concerning a very rare case of insufficiency of the tricuspid valve caused by a congenital malformation.” 7,8 The patient was a 19-year-old cyanotic man with dyspnea, palpitations, jugular venous distension, and cardiomegaly. 7,8 At autopsy, Ebstein described an enlarged and fenestrated anterior leaflet of the tricuspid valve. The posterior and septal leaflets were hypoplastic, thickened, and adherent to the right ventricle. There was also a thinned and dilated atrialized portion of the right ventricle, an enlarged right atrium, and a patent foramen
Ebstein’s anomaly is a congenital malformation of the tricuspid valve characterized by abnormal attachment of the valve leaflets, resulting in varying degrees of valve dysfunction. The anatomic hallmarks of this entity are the downward displacement of the attachment of the septal and posterior leaflets of the tricuspid valve. Additional intracardiac malformations are common. From an embryological point of view, the cavity of the future right atrium does not have a direct orifice connected to the developing right ventricle. This chapter provides an overview of current insight into how this connection is formed and how malformations of the tricuspid valve arise from dysregulation of molecular and morphological events involved in this process. Furthermore, mouse models that show features of Ebstein’s anomaly and the naturally occurring model of canine tricuspid valve malformation are described and compared to the human model. Although Ebstein’s anomaly remains one of the least understood cardiac malformations to date, the studies summarized here provide, in aggregate, evidence for monogenic and oligogenic factors driving pathogenesis.
Ebstein's anomaly of the tricuspid valve is infrequently associated with left heart anomalies. The association of aortic stenosis in Ebstein's anomaly has been reported to be extremely rare and the association of coarctation of aorta is even rarer especially in adults. The combination of all three of these lesions is virtually unknown without any references in literature. We report here an unusual case of Ebstein's anomaly of the tricuspid valve and severe aortic stenosis with coarctation of aorta in an adult who presented to us with exertional dyspnoea in the third decade and underwent a successful single-stage intracardiac repair.
We report three-dimensional imaging of a rare finding of Ebstein’s anomaly of the tricuspid valve in a patient with hypoplastic left heart syndrome, which has been previously reported only by two-dimensional echocardiography. A fetal echocardiogram was performed at 19 weeks that showed a moderately hypoplastic left ventricle, severely hypoplastic mitral valve, a severely hypoplastic aortic valve, and a dysplastic tricuspid valve. Post Caesarean delivery at 40 weeks of gestation, a transthoracic echocardiogram confirmed the findings seen on the fetal echocardiogram. A three-dimensional echocardiogram was then performed, which demonstrated an Ebstein tricuspid valve with apical displacement of the septal leaflet, chordal attachments of the valve to the right ventricular outflow tract, and moderate tricuspid regurgitation. The patient underwent a successful heart transplantation.
Pathological anatomyPathophysiologyNatural historyUnnatural historyReferences
Co-existence of Ebstein's anomaly of the tricuspid valve with rheumatic mitral stenosis is a very rare occurrence. We report the case of a young man who presented with progressive dyspnoea and was found to have rheumatic mitral stenosis with pulmonary hypertension and Ebstein's anomaly of the tricuspid valve. The patient underwent successful balloon mitral valvotomy resulting in marked improvement of symptoms.
Ebstein anomaly is a congenital malformation of the tricuspid valve characterised by abnormal attachment of the valve leaflets, resulting in varying degrees of valve dysfunction. The anatomic hallmarks of this entity are the downward displacement of the attachment of the septal and posterior leaflets of the tricuspid valve, and additional intracardiac malformations are common. From an embryological point of view, the cavity of the future right atrium does not have a direct orifice connected to the developing right ventricle. This chapter provides an overview of current insight into how this connection is formed and how malformations of the tricuspid valve arise from dysregulation of molecular and morphological events involved in this process. Furthermore, the naturally occurring model of canine tricuspid valve malformation and the recently generated Nkx2-5 (NK2 homeobox 5) p.Arg25Gly knockin allele, which are the most faithful animal models of Ebstein anomaly reported to date, are described and set in contrast to the human model. Although Ebstein anomaly remains one of the least understood cardiac malformations to date, the studies summarised here provide, in aggregate, evidence for strong monogenic and oligogenic factors driving pathogenesis.
We report a rare case of hypoplastic left heart syndrome coexisting in a patient with Ebstein anomaly of the tricuspid valve, which has previously been described only in pathological studies. A fetal echocardiogram at 27-weeks gestation showed severe aortic stenosis with evolving hypoplastic left heart syndrome, significant endocardial fibroelastosis, a dysplastic tricuspid valve with moderate regurgitation, right atrial and ventricular dilation, and signs of fetal congestive heart failure. Due to inadequate left heart size, the patient was not a candidate for fetal intervention for critical aortic stenosis, and repeat studies showed progression of the lesion through the pregnancy. The infant was delivered at 36-weeks gestation with signs of hydrops, and a postnatal echocardiogram confirmed hypoplastic left heart syndrome as well as severe Ebstein anomaly of the tricuspid valve. The infant did not survive to intervention.
We present the anatomic constellation of mitral stenosis/aortic atresia variant of hypoplastic left heart syndrome, Ebstein's anomaly, and partial anomalous pulmonary venous return, an exceeding rare congenital heart defect. Prenatal echocardiography led to concern about the capacity of the right ventricle to increase cardiac output with lung expansion and pulmonary arterial runoff at birth, prompting the precaution of extracorporeal membrane oxygenator standby at delivery. Stage I palliation was not attempted, and control of pulmonary arterial blood flow was achieved with pulmonary artery banding, allowing sufficient ongoing hemodynamic stability. Orthotopic cardiac transplantation, repair of hypoplastic aortic arch, and primary sutureless repair of left pulmonary veins was performed, using dual-site arterial cannulation and continuous mild hypothermic cardiopulmonary bypass. We discuss how this unique echocardiographic anatomy influenced the surgical decision and point out how it guided therapy toward a strategy of primary transplantation rather than standard staged surgical palliation.
Ebstein's malformation involving both atrioventricular valves is a very rare entity. We report two cases in which the atrioventricular valves were also associated with multiple orifices. The first was an adult with known congenital heart disease. The true nature of the valvar malformation, associated with atrioventricular septal defect, was only discovered at autopsy. The second case was a neonatal heart specimen associated with hypoplastic left ventricle and aortic atresia. A review of the literature showed that Ebstein's malformation was rarely associated with atrioventricular septal defect. While accessory orifices were common in the left atrioventricular valve, they were rarely found in the right atrioventricular valve. Our cases, therefore, showed a very rare combination of seemingly disparate defects at the level of the atrioventricular junction.
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A systematic approach and segmental analysis are required for comprehensive assessment including both morphologic and functional abnormalities associated with Ebstein's anomaly. The essence of the disease is an apical displacement of both the septal and the posterior tricuspid leaflets, exceeding 20 mm or 8 mm/m2 in adults. As a consequence, the right heart consists of three components including the true right atrium, the functional right ventricle (RV) and an intervening zone that is anatomically ventricular but functionally right atrial (atrialized RV). The thin wall of the atrialized RV may result in an aneurysm between the anatomic tricuspid annulus and the apically displaced posterior leaflet. The annular attachment of the anterior leaflet is normal, which may be dysplastic and adherent to the RV wall. Tricuspid regurgitation is usually moderate to severe. Size, shape and function of the functional RV must be described. The paradoxical motion of the interventricular septum causes alterations in left ventricular geometry and function. An interatrial communication is frequently present. Echocardiography is the method of choice to diagnose Ebstein's anomaly on its own or in association with other heart defects.
Ebstein's anomaly (EA) is a rare but fascinating congenital heart disorder accounting for <1% of all congenital heart defects. Since its description in 1866, dramatic advances in diagnosis and therapy have been made. In this review, we describe current diagnostic criteria and classification, natural history, clinical features, and prognosis, typical echocardiographic features and pathologic findings, and the spectrum of associated cardiac malformations including left heart anomalies associated with EA. Differences between Ebstein-like changes associated with congenitally corrected transposition and EA are described. The spectrum of typical ECG and conduction system changes, arrhythmias including accessory pathways and ectopic atrial tachycardias related to EA are also reviewed. Differential diagnosis of EA is discussed including tricuspid valve dysplasia and prolapse as well as arrhythmogenic right ventricular cardiomyopathy. The review describes management options in EA including catheter interventions, indication for operation and surgical options including tricuspid valve repair and replacement. Overall, EA is a complex congenital anomaly with a broad pathologic-anatomical and clinical spectrum and no two patients are alike. Therefore, precise knowledge of the different anatomic and hemodynamic variables, associated malformations and management options are essential. Management of EA patients is complex. Thus it is important that these patients are regularly seen by a cardiologist with expertise in congenital heart disease.
Seventeen cases of Ebstein's anomaly have been presented; the diagnosis was confirmed by autopsy in 6, and made on clinical grounds in the other 11. The series includes the youngest patient dying of the lesion, a stillborn infant, and the fifth oldest patient thus far reported (64 years).The features associated with this condition are presented as found in this series and compared with those observed by previous authors.It is emphasized that the history and physical and laboratory examinations are sufficiently characteristic to allow the diagnosis to be made with a high degree of accuracy in the majority of cases. As with any condition, the entity is represented by a spectrum in every regard; and as to the cases on either end of the spectrum, one must combine a high degree of suspicion with a knowledge of the spectrum, else the true diagnosis will only be made at the autopsy table or at the time of ill-advised operative procedures.Particular emphasis is given to the group of patients over 50 years of age who represent about 5 per cent of the patients with Ebstein's anomaly. They may be, and in fact generally are, unusual in all respects when compared to the “typical” case.Comments are made on the natural history of the young patient, and it is urged that extensive diagnostic or surgical procedures be delayed until signs of deterioration appear, since tolerance of such procedures may be poor.The etiology of the anomaly remains obscure, and a practical and satisfactory therapeutic approach remains for the future.
A case has been presented which exemplifies the typical clinical, laboratory, and anatomic features of Ebstein's disease. With modern diagnostic techniques the diagnosis can now be made with assurance during life. The main criteria for establishing a correct diagnosis are late or absent cyanosis, radiographic evidence of right atrial and right ventricular enlargement without signs of pulmonary vascular congestion, and pressures in the pulmonary artery and right ventricle which are within the normal range. From these studies a fairly distinctive differentiation emerges.
A child is presented with Ebstein's malformation of the tricuspid valve associated with pulmonary stenosis and ventricular septal defect producing moderately severe right ventricular hypertension. A search of the literature fails to reveal another case of Ebstein's anomaly with either severe right ventricular hypertension or with a significant gradient across the pulmonary valve. In this instance the diagnosis was not suspected because of the predominance of the clinical findings referable to the accompanying lesions. Extreme cardiac irritability and progressive conduction defects should suggest the diagnosis of Ebstein's anomaly. This may be confirmed with the intracardiac electrode catheter.
Case report: Ebstein's disease
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Case report: Ebstein's disease.NY State
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