Materiały źródłowe

• #1 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  Ebstein anomaly is a rare congenital heart disease characterized by apical displacement of the tricuspid valve, adherence of the septal and posterior leaflets to the myocardium, and atrialization of the inlet portion of the right ventricle. […] The main pathophysiological abnormality of Ebstein anomaly is the failure of delamination of the tricuspid valve leaflets from the interventricular septum in utero. […] The apical displacement mainly affects the posterior and septal leaflets, leading to the apical displacement of the tricuspid annulus and anteroapical displacement of the tricuspid orifice. […] This apical displacement has also been described as a rotational displacement of the tricuspid leaflets towards the RV outflow tract. […] The faulty coaptation of the tricuspid leaflets due to their anatomic displacement and tethering abnormalities leads to tricuspid regurgitation.

• #2 Ebstein Anomaly: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/154447-overview

  Ebstein anomaly is a congenital malformation of the heart that is characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet. […] The embryological development of tricuspid valve leaflets and chordae involves undermining of the right ventricular free wall. This process continues to the level of the atrioventricular (AV) junction. In Ebstein anomaly, this process of undermining is incomplete and falls short of reaching the level of the AV junction. In addition, the apical portions of the valve tissue, which normally undergo resorption, fail to resorb completely. This results in distortion and displacement of the tricuspid valve leaflets, and a part of the right ventricle becomes atrialized. In one study involving 50 hearts with the anomaly, the entire right ventricle was found to be morphologically abnormal.

• #3 Ebstein’s Anomaly | IntechOpen

  https://www.intechopen.com/chapters/61991

  Ebsteins anomaly (EA), a rare congenital heart disease, results from the failure of delamination of tricuspid valve (TV) leaflets from the endocardium of the right ventricle (RV) and apical displacement, particularly of the septal and posterior leaflets of TV. […] The pathophysiologic changes are related to the RV functional impairment and the degree of TV regurgitation or, rarely, stenosis; the size of the interatrial communication; LV dysfunction and other associated congenital cardiovascular malformations. […] Dysfunction of the RV myocardium, and the abnormalities of the TV contribute to the impaired flow into the right heart and the pulmonary circulation. […] The dilated right atrium and RVa decrease the right heart flow. […] This results in increased venous pressure, which leads to an elevation in resistance to forward flow.

• #4 Ebstein Anomaly – Pediatrics – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/pediatrics/congenital-cardiovascular-anomalies/ebstein-anomaly

  The primary abnormality in Ebstein anomaly is adherence of variable portions of the septal and inferior tricuspid valve leaflets to the endocardial surface of the right ventricle. The adherence of the valve leaflets results in displacement of the effective tricuspid valve orifice distally, compromising the functional size of the right ventricle with an atrialized portion of the right ventricle that is proximal to the valve opening. This anomaly has been associated with maternal use of lithium during pregnancy and is frequently part of the spectrum of abnormalities with congenitally corrected transposition of the great arteries. […] Ebstein anomaly is associated with abnormalities that commonly include severe dysplasia and variable dysfunction of the tricuspid valve leaflets, atrial septal defect, pulmonic stenosis, and Wolff-Parkinson-White syndrome. Multiple factors may lead to enlargement of the right atrium and elevated right atrial pressure, such as „atrialized ventricle,” tricuspid regurgitation and/or stenosis, abnormal diastolic function, and limited capacity of the effective right ventricle distal to the tricuspid valve origin. Right atrial pressure will often exceed pressure in the left atrium and lead to right-to-left shunting through a patent foramen ovale or atrial septal defect and subsequent cyanosis. In very severe forms of the anomaly, during the newborn period, the right ventricle might not be able to generate a systolic pressure greater than the elevated pulmonary artery pressure, leading to „functional pulmonary atresia” (failure of a normal pulmonary valve to open in systole).

• #5 Ebstein’s Anamaloy – Pediatric Pathology – Work and Learning Resources – Department of Pathology – University of Rochester Medical Center

  https://www.urmc.rochester.edu/pathology-labs/work-learning-resources/pediatric-pathology/ebsteins-anomaly.aspx

  Ebstein’s anomaly is a rare congenital malformation that is characterized by abnormalities of the tricuspid valve and the right ventricle. The morphology of the abnormalities is highly variable, but in general, there is downward displacement of the septal and posterior leaflets in a spiral fashion. Thus, those leaflets insert below the true annulus of the tricuspid valve and instead insert into the right ventricular endocardium. The anterior leaflet is attached normally at the annulus of the tricuspid valve and it is typically large, sail-like and containing fenestrations. These changes displace the valvular orifice apically, resulting in an atrialization of the proximal right ventricle. […] The leaflets themselves are often dysplastic as well. The septal leaflet is frequently poorly developed and represented only by cauliflower-like remnants along the septum. The posterior leaflet may be rendered immobile as a result of abnormal fusion to the ventricular diaphragmatic wall. The anterior leaflet may also be focally attached to the ventricular wall by short chordae or it may be relatively free and mobile. In addition, fibrous bands may attach the anterior leaflet to the infundibulum. Combined with excess valvular tissue, these findings often result in obstruction of the outflow tract of the right ventricle.

• #6 Ebstein’s Anomaly | Methodist DeBakey Cardiovascular J

  https://journal.houstonmethodist.org/articles/10.14797/mdcj-15-2-138

  Ebstein’s anomaly (EA) is a malformation of the tricuspid valve (TV) with myopathy of the right ventricle (RV) that has variable presentation of the anatomic and pathophysiologic characteristics. The lesion is rare, with an incidence of approximately 1 in 20,000. Anatomical features include (1) failure of TV leaflet delamination, (2) apical descent of the functional tricuspid orifice, (3) right ventricular dilation and atrialization, (4) anterior leaflet abnormal fenestrations and tethering, and (5) right atrioventricular junction dilation. The critical distinguishing feature of EA from other congenital regurgitant lesions is the degree of apical displacement of the septal leaflet (8 mm/m2 body surface area). […] Chordae are additionally variable and may be few to none, and leaflet fenestrations are common. Both atrialized (nontrabeculated myocardium between the anatomic and functional TV annulus) and trabeculated portions of the right ventricle are dilated. Patent foramen ovale and/or atrial septal defects are common, many with right-to-left shunting due to increased right-sided pressures and tricuspid regurgitation. These may contribute to cyanosis and/or paradoxical embolism, particularly in adult patients.

• #7 Ebstein Anomaly and Malformation | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20850

  This apical displacement has also been described as a rotational displacement of the tricuspid leaflets towards the RV outflow tract. […] The displacement is usually defined as 8mm/m2 displacement of the septal leaflet from the anatomic tricuspid annulus. […] The anterior leaflet of the tricuspid valve often has abnormal chordal attachments and becomes hypermobile, described as „sail-like.” […] The RV becomes split into two portions: the „atrialized” and the „functional” RV. […] The atrialized RV is where the tricuspid valvular inflow should normally be, extending from the undisplaced tricuspid annulus to the functional RV. […] The atrialized RV receives the regurgitant flow from the tricuspid regurgitation and becomes dilated along with the right atrium (RA). […] Ebstein anomaly associated with conduction system abnormalities is thought to be due to compression of the atrioventricular node by the septal leaflet, disrupting its function.

• #7 Ebstein Anomaly and Malformation | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20850

  The faulty coaptation of the tricuspid leaflets due to their anatomic displacement and tethering abnormalities leads to tricuspid regurgitation. […] The degree of tricuspid regurgitation is dictated by the severity of the apical displacement of the posterior and septal leaflets, the abnormality of the anterior leaflet attachments, and the integrity of the leaflets themselves. […] The atrialized RV is often dyskinetic from fibrosis and myopathy, and the functional RV can become enlarged and dysfunctional from severe tricuspid regurgitation. […] Right ventricular volume overload produces ventricular septal flattening with left ventricular dysfunction. […] The frequently associated atrial septal defect or a stretched patent foramen ovale will permit right to left shunting from severe tricuspid regurgitation, resulting in hypoxemia and cyanosis.

• #8 Ebstein’s Anomaly | IntechOpen

  https://www.intechopen.com/chapters/81987

  True anatomic pulmonary valve atresia is also associated with Ebsteins anomaly and requires a patent ductus (PDA) to provide pulmonary blood flow. […] The mechanism of tricuspid insufficiency in Ebsteins anomaly is usually related to restrictive leaflet movements. This occurs due to failure of leaflet delamination that results in more distal hinge line attachment to the RV, as well as to the presence of muscular bridges and abnormal papillary muscles that tether the TV leaflets to the RV wall, restricting their movements. […] The cone procedure for reconstruction of the TV in Ebsteins malformation usually provides a full coaptation of the leaflets, resulting in effective and durable tricuspid regurgitation repair in the majority of patients.

• #8 Ebstein’s Anomaly | IntechOpen

  https://www.intechopen.com/chapters/81987

  Ebsteins anomaly of the tricuspid valve is a cardiac malformation characterized by downward displacement of the septal and inferior tricuspid valve (TV) leaflets, redundant anterior leaflets with a sail-like morphology, dilation of the true right atrioventricular annulus, TV regurgitation, and dilation of the right atrium and ventricle. […] This malformation is thought to be due to the defects in the process of delamination from the underlying myocardium during the development of the tricuspid valve. […] The presentation and pathophysiology of Ebsteins anomaly depend on the severity of the morphology and associated congenital heart defects. […] At the extreme end in Carpentier type C and D of Ebsteins anomaly, there is severe displacement of the tricuspid valve that results in severe tricuspid regurgitation and an ineffective functional right ventricle.

• #9 Ebstein Anomaly and Malformation – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK534824/

  The degree of tricuspid regurgitation is dictated by the severity of the apical displacement of the posterior and septal leaflets, the abnormality of the anterior leaflet attachments, and the integrity of the leaflets themselves. […] Ebstein anomaly associated with conduction system abnormalities is thought to be due to compression of the atrioventricular node by the septal leaflet, disrupting its function. […] The atrialized RV is often dyskinetic from fibrosis and myopathy, and the functional RV can become enlarged and dysfunctional from severe tricuspid regurgitation. […] Right ventricular volume overload produces ventricular septal flattening with left ventricular dysfunction. […] More than 80% of patients with Ebstein anomaly also have a secundum atrial septal defect or a patent foramen ovale through which paradoxical emboli can travel.

• #10 Ebstein’s anomaly in children and adults: multidisciplinary insights into imaging and therapy | Heart

  https://heart.bmj.com/content/110/4/235

  The atrialized RV (aRV) lacks of myocardial fiber concentration and presents reduced wall thickness. […] The evidence that biventricular systolic impairment confers a ninefold increase in the risk of MACEs enlightens the impact of EA on left-sided heart. […] LV impairment in EA is multifactorial and principally triggered by: (1) interventricular dependency (aRVLV and fRVLV interaction); (2) reduced LV preload due to decreased forward RV SV; (3) shape anomalies including LV basal narrowing and apical dilation; (4) myocardial alterations, including features of cardiomyopathy and myocardial fibrosis.

• #10 Ebstein’s anomaly in children and adults: multidisciplinary insights into imaging and therapy | Heart

  https://heart.bmj.com/content/110/4/235

  Ebsteins anomaly (EA) is a congenital valvular and ventricular dysplasia of the right-sided heart, frequently associated with left-sided heart anomalies. EA results from incomplete delamination of the tricuspid valve (TV) from the right ventricular (RV) endocardium, which occurs between the 7th and 12th week of intrauterine life. […] Impaired fibrous transformation from the muscular precursor results in adherence of TV components to the RV wall, thus causing an apical displacement of the septal leaflet (SL) hinge point. […] Leaflets adherence to RV wall determines two key EA anatomopathological features: (1) the TV effective orifice separates from the anatomical annulus and rotates towards the right ventricular outflow tract (RVOT) of a degree which depends on the extension of the delamination defect; (2) the myocardial wall above the effective TV orifice is atrialized, thus rendering EA a RV myopathy beyond a valve disease.

• #11 Ebstein Anomaly: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/154447-overview

  The hemodynamic consequences of Ebstein anomaly result from displaced and malformed tricuspid leaflets and atrialization of the right ventricle. The leaflet anomaly leads to tricuspid regurgitation. The severity of regurgitation depends on the extent of leaflet displacement, ranging from mild regurgitation with minimally displaced tricuspid leaflets to severe regurgitation with extreme displacement. […] The atrialized portion of the right ventricle, although anatomically part of the right atrium, contracts and relaxes with the right ventricle. This discordant contraction leads to stagnation of blood in the right atrium. During ventricular systole, the atrialized part of the right ventricle contracts with the rest of the right ventricle, which causes a backward flow of blood into the right atrium, accentuating the effects of tricuspid regurgitation.

• #12 Ebstein’s Anomaly | Concise Medical Knowledge

  https://www.lecturio.com/concepts/ebsteins-anomaly/

  The basis of cyanosis and heart failure in EA is due to functionally impaired RV and tricuspid regurgitation that results in reduced ejection fraction. […] Increased backflow into the right atrium (RA) results in shunting of blood from the RA into the left through the interatrial defect, bypassing the lung and causing cyanosis. […] Reduced RV ejection fraction due to: TV displacement causing the ventricle to reduce to the RVOT, TV regurgitation, RV functionally impaired due to atrialized portion, and reduced ejection fraction leading to right-sided heart failure. […] Tricuspid regurgitation due to RV dilatation causes valvular annulus dilatation which enhances regurgitation. […] RA dilation may cause further RA dilation and arrhythmias such as atrial fibrillation. […] Increased pressure in the chamber leads to right-to-left shunt through an interatrial defect, resulting in more deoxygenated blood entering the systemic circulation, causing cyanosis.

• #13 Ebstein Anomaly | Pediatric Echocardiography

  https://pedecho.org/library/chd/ebstein-anomaly

  Ebstein anomaly is a rare form of congenital heart disease in which the tricuspid valve annulus is apically displaced producing to variable degrees heart failure. The septal and posterior leaflets of the tricuspid valve fail to delaminate from the myocardium in development, leading to annular displacement and atrialization of the right ventricle (RV) that produces RV dilation and dysfunction. […] The severity of disease can vary and is dependent on the degree of valve displacement, degree of atrialized RV, RVOT obstruction, and ventricular dysfunction. […] There is a high risk cohort of patients who demonstrate circular shunt physiology in the presence of severe tricuspid regurgitation, right-to-left flow across the atrial septal defect, prograde flow through the left ventricular outflow tract with subsequent retrograde flow from the patent ductus arteriosus into the MPA with severe pulmonary regurgitation with flow back into the right ventricle.

• #14 Ebstein Anomaly | Symptoms, Diagnosis & Treatment

  https://www.cincinnatichildrens.org/health/e/ebstein

  If there is a lot of blood flowing back into the right atrium, the pressure within the right atrium becomes very high. Normally, a fetus has a hole, between the right and left atrium known as the foramen ovale or PFO. The PFO usually closes after birth. […] In Ebstein anomaly, the high pressure in the right atrium keeps the PFO open. This connection allows unoxygenated („blue”) blood to flow from the right atrium to the left atrium. The blood goes past the lungs and goes directly to the body. This will result in lower oxygen levels in the blood. This is why children with Ebstein anomaly may be blue or „cyanotic”. This is why they have low oxygen saturations. […] Ebstein anomaly may occur with other heart defects, such as pulmonary valve stenosis or atresia, atrial septal defect or ventricular septal defect. Many patients with Ebstein anomaly have an extra electrical conduction pathway in the heart. This can lead to times of abnormal fast heart rate called supraventricular tachycardia (this condition is known as Wolff-Parkinson-White syndrome).

• #15 Ebstein’s Anomaly | Methodist DeBakey Cardiovascular J

  https://journal.houstonmethodist.org/articles/10.14797/mdcj-15-2-138

  Electrocardiogram classically includes PR interval prolongation, tall P waves, and a degree of right bundle branch block. Atrial tachycardia including atrial fibrillation, atrial flutter, or ectopic atrial tachycardia is present in 25 to 65 of patients, and 10 to 45 of patients have accessory pathways such as Wolff-Parkinson-White syndrome. […] 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. […] Tricuspid repair has evolved through many techniques and operative modifications. Early repair techniques were centered on the anterior leaflet monocuspid valve. […] The modern approach is the cone reconstruction method introduced in 2007 by da Silva. This technique was an extension of the Carpentier technique in that septal and inferior leaflet tissues were mobilized, and then the sides of all the mobilized leaflets were connected in a manner to create 360 degrees of leaflet tissue.

• #16 Ebstein’s anomaly – Wikipedia

  https://en.wikipedia.org/wiki/Ebstein%27s_anomaly

  Ebstein’s anomaly is a congenital heart defect in which the septal and posterior leaflets of the tricuspid valve are displaced downwards towards the apex of the right ventricle of the heart. […] EA has great anatomical heterogeneity that generates a wide spectrum of clinical features at presentation and is complicated by the fact that the lesion is often accompanied by other congenital cardiac lesions. […] While Ebstein’s anomaly is defined as the congenital displacement of the tricuspid valve towards the apex of the right ventricle, it is often associated with other abnormalities. […] Typically, anatomic abnormalities of the tricuspid valve exist, with enlargement of the anterior leaflet of the valve. […] About 50% of individuals with Ebstein’s anomaly have an accessory pathway with evidence of Wolff-Parkinson-White syndrome, secondary to the atrialized right ventricular tissue.

• #17 Ebstein anomaly – WikEM

  https://wikem.org/wiki/Ebstein_anomaly

  The T wave inversion in V1-4 and a marked Q wave in III occur; these changes are characteristic for Ebstein’s anomaly and do not reflect ischemic ECG changes in this patient. […] Echocardiography […] Apical displacement of septal leaflet of tricuspid valve […] Tethering of tricuspid valve […] Right atrial enlargement […] Atrialization of right ventricle […] Tricuspid regurgitation. […] Tall, broad P waves due to right atrial enlargement […] Complete or incompletely right bundle branch block […] Bizarre QRS due to conduction abnormalities.

• #18

  https://link.springer.com/article/10.1007/s10840-024-01744-8

  The electrophysiological hallmark of Mahaim physiology is progressive lengthening of the AH interval with shortening HV interval and increasing degree of preexcitation during atrial pacing at faster rates. […] The aRV has areas of fibrosis interspersed with myocardial tissue that predisposes scar re-entry. […] The risk of recurrence is relatively high (20 to 40%). […] The complex signals at the TA, presence of multiple pathways, the dilated RA, and distorted annular geometry restricting catheter contact are all contributors. […] The surgical repair in EA gives the opportunity for surgical modification the arrhythmia substrate but may also inadvertently create additional arrhythmia substrates related to the surgical incision. […] Given the preponderance of arrhythmias in EA, and with reports of sudden death in patients with EA after successful surgical repair, an electrophysiological study prior to the surgery is ideal even in the absence of arrhythmia symptoms. […] Integration of multimodality imaging with the use of ICE and newer mapping/ablation procedure technologies can improve the success rate and decrease recurrence rates of accessory pathway ablation.

• #19 Ebstein’s Anomaly

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6668741/

  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. […] Ebstein’s anomaly (EA) is a malformation of the tricuspid valve (TV) with myopathy of the right ventricle (RV) that has variable presentation of the anatomic and pathophysiologic characteristics. […] The critical distinguishing feature of EA from other congenital regurgitant lesions is the degree of apical displacement of the septal leaflet ( 8 mm/m2 body surface area). […] Both atrialized (nontrabeculated myocardium between the anatomic and functional TV annulus) and trabeculated portions of the right ventricle are dilated. […] Patient presentation is variable due to the underlying heterogeneity of disease anatomy and physiology.

• #20

  https://link.springer.com/article/10.1007/s11886-020-01412-z

  Ebsteins anomaly (EA) is a rare, but complex form of congenital heart disease consisting of a right ventricular myopathy and morphologic tricuspid valve disease leading to a high incidence of right ventricular dysfunction and arrhythmias. […] Increased understanding of anatomic accessory atrioventricular pathways in EA has resulted in an improvement in ablation techniques and long-term freedom of atrial arrhythmia recurrence. […] Despite an improvement in understanding and recognition of EA, significant disease heterogeneity and complex treatment options continue to challenge providers, with the best outcomes achieved at expert congenital heart disease centers.

• #21 Ebstein’s Anomaly

  https://pmc.ncbi.nlm.nih.gov/articles/PMC6668741/

  Initial presentation of EA in adulthood is common, and natural history demonstrates decreased survival with biventricular failure. […] The relationship between right-sided myocardial fibrosis and clinical outcomes has yet to be fully evaluated but has been shown to be related to supraventricular arrhythmias. […] 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. […] Tricuspid repair has evolved through many techniques and operative modifications. […] The modern approach is the cone reconstruction method introduced in 2007 by da Silva. […] Potential contraindications to cone reconstruction are older age ( 60 years), pulmonary hypertension, biventricular dysfunction (left ventricular ejection fraction 30%), lack of septal leaflet tissue and minimal delaminated anterior leaflet tissue ( 50%), and severe enlargement of the RV with corresponding severe dilation of the right atrioventricular junction. […] Although TV competence is improved and favorable RV remodeling has been suggested, the RV myopathy inherent to the disease process still remains and plays a role in late symptoms and arrhythmias and possibly in late sudden cardiac death.

• #22 Ebstein’s Anomaly | IntechOpen

  https://www.intechopen.com/chapters/61991

  The degree of functional impairment has been directly related to these anatomic and physiologic abnormalities. […] Although the primary focus in patients with EA has been on right-sided structures, there have been an increasing number of reports of left-sided abnormalities, especially in LV size, shape, and function. […] The combination of RV myopathy, tricuspid regurgitation, and elevated pulmonary resistance can lead to poor pulmonary perfusion when the arterial duct constricts or closes.

• #23 Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways | PLOS One

  https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0165174

  Ebstein anomaly (EA) is a rare heart defect in which the tricuspid valve is malformed and displaced. […] Although the etiology of EA is largely unresolved, increased prevalence of EA in those with a family history of congenital heart disease suggests EA has a genetic component. […] We identified enrichment of gene sets involved in histone modification and cardiomyocyte differentiation, supporting the involvement of the developing myocardium in the etiology of EA. […] Our results suggest an altered myocardial program may contribute to abnormal tricuspid valve development in EA. […] Future studies should investigate abnormal differentiation of cardiomyocytes as a potential etiological factor in EA. […] Although the etiology of EA is largely unresolved, familial recurrence and identification of genetic mutations that segregate with disease provide evidence for a genetic component.

• #24 Ebstein Anomaly and Malformation | Treatment & Management | Point of Care

  https://www.statpearls.com/point-of-care/20850

  Ebstein anomaly is thought to be associated with chromosome 15q duplications during embryological cardiac development. […] There are also case reports suggesting a possible association of Ebstein anomaly with chromosome 11q rearrangements. […] Other reports indicate an association between Ebstein malformation and mutations in MYH7; MYH7 mutations are frequently associated with cardiomyopathies. […] Ebstein anomaly has also been associated with mutations in NKX2-5, which encodes a cardiac transcription factor responsible for the association between atrial septal defects and atrioventricular conduction defects. […] The main pathophysiological abnormality of Ebstein anomaly is the failure of delamination of the tricuspid valve leaflets from the interventricular septum in utero. […] The apical displacement mainly affects the posterior and septal leaflets, leading to the apical displacement of the tricuspid annulus and anteroapical displacement of the tricuspid orifice.

• #25

  https://omim.org/entry/224700

  In 28 patients with nonsyndromic Ebstein anomaly, Digilio et al. (2011) screened the candidate genes GATA4 (600576) and NKX2.5 (600584), but did not find any mutations. […] Canine tricuspid valve malformation (CTVM) is morphologically similar to Ebstein anomaly. Andelfinger et al. (2003) noted that familial occurrence of CTVM had been described, although most cases appeared to be sporadic.

• #26 Ebstein anomaly – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/ebsteins-anomaly/symptoms-causes/syc-20352127

  Ebstein anomaly is a rare heart condition present at birth. This means it’s a congenital heart defect. The tricuspid valve does not form as it should. The valve also is located lower than usual in the heart. The condition may occur with a hole between the two upper chambers of the heart, called an atrial septal defect. […] In this condition, the valve that separates the top and bottom right heart chambers does not form correctly. This valve is called the tricuspid valve. As a result, the valve does not close as it should. Blood moves backward from the bottom to top chamber, making it harder for the heart to work. […] In a typical heart, the tricuspid valve sits between the two right heart chambers. In Ebstein anomaly, the tricuspid valve is lower than usual in the right lower heart chamber. Also, the shape of the tricuspid valve’s flaps is changed. This can cause blood to flow backward into the right upper heart chamber. When this happens, the condition is called tricuspid valve regurgitation. […] Researchers aren’t sure exactly what increases the risk of Ebstein anomaly. Genetics and environmental factors are believed to be involved. Using some medicines during pregnancy, such as lithium, might increase the risk of Ebstein anomaly in the baby.

• #27 Ebstein’s Anamaloy – Pediatric Pathology – Work and Learning Resources – Department of Pathology – University of Rochester Medical Center

  https://www.urmc.rochester.edu/pathology-labs/work-learning-resources/pediatric-pathology/ebsteins-anomaly.aspx

  As a result of the stresses that are placed on the cardiovascular system, individuals with Ebstein’s anomaly have a shorter life expectancy with only approximately 15% of individuals alive at 60 years. Individuals may present with hemodynamic deterioration, arrhythmias or even sudden death. Infants with Ebstein’s anomaly diagnosed in utero have a significantly worse prognosis as compared to others identified later in life. These cases almost always have severe disease with tricuspid regurgitation and significant cardiomegaly. It is believed that one-third of prenatally diagnosed cases will die in utero and only one-tenth will survive the neonatal period. […] The etiology of Ebstein’s anomaly is unknown. The prevalence is estimated to be 1 in 50,000 to 100,000 individuals with no predilection for gender. Early studies proposed that it might occur with a higher frequency (up to 400 times greater) in infants of mothers who take lithium in early pregnancy. These findings were not supported in later studies, however, and the relationship between first trimester exposure to lithium and Ebstein’s anomaly remains unclear.

• #28 Ebstein anomaly Information | Mount Sinai – New York

  https://www.mountsinai.org/health-library/diseases-conditions/ebstein-anomaly

  Ebstein anomaly is a rare heart defect in which parts of the tricuspid valve are abnormal. The tricuspid valve separates the right lower heart chamber (right ventricle) from the right upper heart chamber (right atrium). In people with Ebstein anomaly, the positioning of the tricuspid valve and how it functions to separate the two chambers is abnormal. […] In people with Ebstein anomaly, the leaflets are placed deeper into the right ventricle instead of the normal position. The leaflets are often larger than normal. The defect most often causes the valve to work poorly, and blood may go the wrong way. Instead of flowing out to the lungs, the blood flows back into the right atrium. The backup of blood flow can lead to heart enlargement and fluid buildup in the body. […] Ebstein anomaly occurs as a baby develops in the womb. The exact cause is unknown. The use of certain drugs (such as lithium or benzodiazepines) during pregnancy may play a role. The condition is rare. It is more common in white people.

• #29 Ebstein Anomaly: causes, symptoms, diagnosis, and treatment – Medical insight

  https://angolodeldottorino.it/en/Medicine/Cardiology/Congenital_Heart_Diseases/Ebstein_Anomaly.php

  During cardiac development, between the fourth and seventh weeks of gestation, the endocardial cushions contribute to the formation of the tricuspid valve. A defect in this process can lead to abnormal delamination of the valve leaflets, resulting in their displacement towards the right ventricle. The main pathogenic mechanisms include defective delamination of the tricuspid valve, genetic mutations such as alterations in the NKX2.5 gene, and association with Wolff-Parkinson-White syndrome. Additionally, exposure to teratogenic drugs during pregnancy, such as lithium and thalidomide, has been linked to an increased risk of developing this anomaly. […] Ebstein anomaly alters the normal function of the tricuspid valve and the geometry of the right ventricle. The apical displacement of the leaflets reduces the effective volume of the right ventricle, partially „atrializing” it. This condition results in decreased contractile force and varying degrees of valvular insufficiency. The increased tricuspid regurgitation leads to a progressive dilation of the right atrium, increasing the risk of developing atrial fibrillation and other arrhythmias. The structurally altered right ventricle may develop systolic dysfunction, reducing cardiac output. In more severe cases, a significant right-to-left shunt at the atrial level allows deoxygenated blood to enter systemic circulation, leading to cyanosis. When right ventricular failure becomes advanced, systemic venous congestion develops, leading to hepatomegaly, ascites, and peripheral edema. In neonates with critical forms, the oxygenation deficit may require urgent interventions to ensure adequate perfusion of vital organs.

• #30 Ebstein’s Anamaloy – Pediatric Pathology – Work and Learning Resources – Department of Pathology – University of Rochester Medical Center

  https://www.urmc.rochester.edu/pathology-labs/work-learning-resources/pediatric-pathology/ebsteins-anomaly.aspx

  Ebstein’s anomaly is generally considered to be unrelated to karyotypic abnormalities or recognizable syndromes. The majority of cases are sporadic, although familial cases have been reported. It is estimated that the recurrence risk following the birth of an affected child is 1%, while the risk is 3% if there are two siblings already affected.

• #31 Ebsteins anomaly of the tricuspid valve pathophysiology – wikidoc

  https://www.wikidoc.org/index.php/Ebsteins_anomaly_of_the_tricuspid_valve_pathophysiology

  Pathophysiology mainly involves the right ventricle, right atrium and tricuspid valve. […] Failure of TV(tricuspid valve) leaflet delamination […] Apical descent of the functional tricuspid orifice […] Right ventricular dilation and atrialization […] Anterior leaflet abnormal fenestrations and tethering […] Right atrioventricular junction dilation. […] Any Delamination failure might result in adherence of the leaflets to the ventricular myocardium as a result causes apical displacement of the tricuspid valve leaflets. […] The downward extension of the tricuspid valve causes 'atrialization’ of the proximal part of the right ventricle. […] The small distal part, the right ventricle proper, thus is reduced in size and sometimes comprises only of the right ventricular outflow tract.

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