Materiały źródłowe

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

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

  Ebstein anomaly accounts for 0.3% to 0.6% of all congenital heart defects and is reported to occur in 0.2 to 0.7 per 10,000 live births. […] Most cases of Ebstein anomaly are sporadic, with no identifiable etiology. Some studies suggest that there may be a familial inheritance, as has been observed in monozygotic twins. […] There is a higher incidence of recurrence in the offspring of affected women (6%) than in the offspring of affected men (1%).

• #2 Ebstein anomaly: Clinical manifestations and diagnosis – UpToDate

  https://www.uptodate.com/contents/clinical-manifestations-and-diagnosis-of-ebstein-anomaly

  The incidence of Ebstein anomaly in the general population has been estimated to be 1.2 to 5 in 100,000 live births with no predilection for either gender. […] The genetic predisposition for Ebstein anomaly is considered heterogeneous. […] The risk of Ebstein anomaly in infants of mothers taking lithium during early pregnancy is discussed separately.

• #3 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. […] Patient presentation is variable due to the underlying heterogeneity of disease anatomy and physiology. Although most patients are diagnosed in infancy or childhood, the initial diagnosis may also occur in adulthood. […] Initial presentation of EA in adulthood is common, and natural history demonstrates decreased survival with biventricular failure. […] In a study by Attie et al., the estimated overall survival in unoperated patients with time zero at 25 years of age was 89, 81, 76, 53, and 41 at 1, 5, 10, 15, and 20 years of follow-up, respectively.

• #4 Ebstein’s Anomaly: Causes, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/16946-ebsteins-anomaly-for-adults

  About one in every 200,000 babies are born with Ebsteins anomaly. It accounts for less than 1% of all congenital heart defects. […] The prognosis for Ebsteins anomaly varies widely. Some infants with the condition dont survive, while other people live a normal lifespan and never need treatment. In general, the prognosis is better if you have a mild form of the condition. […] One study followed 539 patients with Ebsteins anomaly who had surgery between 1972 and 2006. Twenty years after surgery, 65% of patients had at least one heart-related hospitalization and 76% were alive. For people who receive surgery today, outcomes may be better due to improvements in surgical procedures and follow-up care.

• #5 Ebstein’s Anomaly | Concise Medical Knowledge

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

  Ebstein’s anomaly accounts for less than 1% of all cases of CHD. […] 0.30.5% of all cases of CHD […] 40% of all congenital tricuspid valve abnormalities […] 1.2 to 5 out of every 100,000 live births […] Median age of presentation is late childhood or adolescence.

• #6

  https://link.springer.com/article/10.1007/s00246-022-02908-x

  Ebsteins anomaly, first described in 1866 by Dr William Ebstein, accounts for 0.3-0.5% of congenital heart defects and represents 40% of congenital tricuspid valve abnormalities. […] Associated congenital cardiac lesions tend to be found more often in younger patients and may even be the reason for presentation. […] This article summarizes and analyzes the literature on Ebsteins anomaly and provides a framework for the investigation, management, and follow-up of these patients, whether they present via fetal detection or late in adult life. […] The review also assesses the effects of pregnancy on the Ebsteins circulation, and vice versa, the effects of Ebsteins on pregnancy outcomes. […] Celermajer DS, Bull C, Till JA, Cullen S, Vassillikos VP, Sullivan ID, Allan L, Nihoyannopoulos P, Somerville J, Deanfield JE (1994) Ebsteins anomaly: presentation and outcome from fetus to adult.

• #7 Ebstein anomaly | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/ebstein-anomaly?embed_domain=hackmd.io%25252F%252540yipuafecsl2jsu8smr5njq%25252Fbnjhjgjghjghjghfavicon.icofavicon.ico&lang=us

  The anomaly accounts for only ~0.5% of congenital cardiac defects, although it is the most common cause of congenital tricuspid regurgitation. […] There is no recognized gender predilection, and almost all cases seem to be sporadic, although an association with maternal lithium carbonate injection has been postulated. […] A few familial cases have been reported.

• #8 The changing epidemiology of Ebstein’s anomaly and its relationship with maternal mental health conditions: a European registry-based study – PubMed

  https://pubmed.ncbi.nlm.nih.gov/27572669/

  The aim of this study was to describe the epidemiology of Ebstein’s anomaly in Europe and its association with maternal health and medication exposure during pregnancy. […] We included data from 15 European Surveillance of Congenital Anomalies Congenital Anomaly Registries in 12 European countries, with a population of 5.6 million births during 1982-2011. […] In total, 264 Ebstein’s anomaly cases were recorded; 81% were live births, 2% of which were diagnosed after the 1st year of life; 54% of cases with Ebstein’s anomaly or a co-existing congenital anomaly were prenatally diagnosed. Total prevalence rose over time from 0.29 (95% confidence interval (CI) 0.20-0.41) to 0.48 (95% CI 0.40-0.57) (p0.01). […] The increasing prevalence of Ebstein’s anomaly may be related to better and earlier diagnosis.

• #9 The changing epidemiology of Ebstein’s anomaly and its relationship with maternal mental health conditions: a European registry-based study | Cardiology in the Young | Cambridge Core

  https://www.cambridge.org/core/journals/cardiology-in-the-young/article/changing-epidemiology-of-ebsteins-anomaly-and-its-relationship-with-maternal-mental-health-conditions-a-european-registrybased-study/73EB8FF05623998DF2B7AB47A33E576E

  The aim of this study was to describe the epidemiology of Ebsteins anomaly in Europe and its association with maternal health and medication exposure during pregnancy. […] We estimated total prevalence per 10,000 births. […] In total, 264 Ebsteins anomaly cases were recorded; 81% were live births, 2% of which were diagnosed after the 1st year of life; 54% of cases with Ebsteins anomaly or a co-existing congenital anomaly were prenatally diagnosed. Total prevalence rose over time from 0.29 (95% confidence interval (CI) 0.200.41) to 0.48 (95% CI 0.400.57) (p0.01). […] The increasing prevalence of Ebsteins anomaly may be related to better and earlier diagnosis. […] Our data suggest that Ebsteins anomaly is associated with maternal mental health problems generally rather than lithium or benzodiazepines specifically; therefore, changing or stopping medications may not be preventative.

• #10 Ebstein’s Anomaly – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/ebsteins.html

  Some children have this condition diagnosed as infants, and in other children it is not detected until they are adolescents or even adults. […] Long-term, children with Ebstein’s anomaly will need to be followed at least yearly by a cardiologist to be sure that there are no new symptoms that require treatment. […] Our program has been tracking Ebstein’s anomaly among live births in select counties since 2005 and have expanded statewide. […] Using data from births to Hennepin and Ramsey county residents between 2012-2016, we found that fewer than 1 baby was born with Ebstein anomaly per 10,000 births. […] Using this data, we estimate about 3 babies are born with Ebstein’s anomaly every year in Minnesota.

• #11 Ebstein Anomaly: A Comprehensive Guide

  https://longmoreclinic.org/ebstein-anomaly-a-comprehensive-guide/

  Ebstein anomaly accounts for less than 1% of all congenital heart diseases. […] There is no known predilection for any specific gender or ethnicity.

• #12 Orphanet: Ebstein malformation of the tricuspid valve

  https://www.orpha.net/en/disease/detail/1880

  The prevalence at birth is between 1/20,000-100,000. Ebstein malformation of the tricuspid valve accounts for less than 1% of all congenital heart defects. Both sexes are equally affected. […] Patients with asymptomatic and mild forms have a normal life expectancy. However, symptoms usually develop progressively from adulthood onwards. Patients with severe forms of the disease, particularly those presenting during the fetal period or as neonates, have an increased risk of death due to biventricular failure, including at birth or during physical exercise. Supraventricular arrhythmias are frequent, particularly in adults, and can lead to sudden cardiac death.

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

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

  Ebstein anomaly probably accounts for 0.5% of cases of congenital heart diseases. Its true prevalence is unknown because mild forms frequently are undiagnosed. With the wide application of echocardiography, more cases are being diagnosed. […] Ebstein anomaly is more common in children of white females. However, no specific sex predominance exists. […] Ebstein anomaly can present at various stages of life, as follows: Fetal life: Ebstein anomaly is usually diagnosed incidentally by echocardiography. Neonatal life and infancy: Ebstein anomaly presents with cyanosis and/or severe heart failure; typically, symptoms present in infancy improve as pulmonary vascular resistance decreases. Adult life: Ebstein anomaly presents with fatigue, exertional dyspnea, cyanosis, tricuspid regurgitation and/or right heart failure, and palpitations; arrhythmias are common.

• #14 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 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. […] 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.

• #15 Ebstein’s Anomaly – ACHA

  https://www.achaheart.org/your-heart/educational-qas/types-of-heart-defects/ebstein-s-anomaly/

  Ebsteins anomaly is a rare congenital heart defect affecting the tricuspid valve on the right side of the heart. It occurs in about one out of every 200,000 infants. This makes up fewer than 1% of all congenital heart defects. It affects males and females equally. […] The cause is not known. However, we do know there is a higher rate in twins and in people with other CHDs, as well as other genetic diseases. […] The risk of having a child with CHD increases from 1% in the general population to between 3% and 8% if you or your family have Ebsteins anomaly. […] The course of Ebsteins anomaly can be unpredictable. Continued lifelong follow-up is needed by an ACHD specialist.

• #16 EBSTEIN ANOMALY: A COMPLEX HEART DEFECT | Mya Care

  https://myacare.com/blog/ebstein-anomaly-a-complex-heart-defect

  Ebstein anomaly is a rare heart defect, comprising less than 1% of all congenital heart issues. It happens in less than 1 in every 10,000 live births. […] Those with Ebsteins anomaly due to mutations of the MYH7 gene stand a 50% chance of passing the condition on to their children. […] While the exact cause of Ebstein Anomaly is unknown, some risk factors may increase the likelihood of a baby being born with this condition. […] Various other heart conditions are associated with Ebstein anomaly and may increase the risk. […] In many cases, there are no symptoms, and a diagnosis is reached when assessing for other conditions. […] A diagnosis of Ebstein Anomaly typically occurs during pregnancy or shortly after birth. […] Individuals with Ebstein anomaly need to work closely with their doctors to monitor their heart health and manage any symptoms that may arise, even after surgery.

• #17 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

  Our results suggest that unlike some other birth defects, EA is not caused by large recurrent CNVs. However, we found rare, potentially pathogenic CNVs carried by more than one-half of NYS EA cases. Our results support previous findings that genetic factors related to EA are likely heterogeneous. Additionally, we have underscored the potential role of histone-modifying genes in CHD and uncovered rRNA processing as a potential novel pathway involved in the etiology of EA. At least 11 of 35 candidate CNVs identified contain genes related to myocardial abnormalities or development, which may contribute to abnormal tricuspid valve development. This suggests that myocardial development may play an important role in EA.

• #18 Narrative review of Ebstein’s anomaly beyond childhood: Imaging, surgery, and future perspectives – Neumann – Cardiovascular Diagnosis and Therapy

  https://cdt.amegroups.org/article/view/62524/html

  Ebsteins anomaly (EA) accounts for approximately 0.5% of all congenital heart diseases (CHD) with a prevalence of approximately 1 in 20,000. […] In a series of 539 patients from the Mayo Clinic, 83.9% of patients had atrial septal defects or a patent foramen ovale, 4.3% had ventricular septal defects and 5.9% had pulmonary stenosis requiring surgical intervention. […] The role of genetics in EA is incompletely understood. There is an association with abnormal left ventricular morphology and function, with left ventricular non-compaction in about 18% of cases. […] Cyanosis, palpitations and poor exercise tolerance are key symptoms in EA. […] Patients can often be managed medically for many years. However, the majority requires surgical intervention at some point, in severe forms even in the newborn period or early childhood.

• #19

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

  Ebstein anomaly (EA) accounts for1% of congenital heart disease. The incidence of accessory atrioventricular (AV) connections is distinctly higher in EA (10-23%) […] The 12-lead electrocardiogram (ECG) is critically important and often diagnostic even prior to an electrophysiology study (EPS) […] The anatomical abnormalities seen in EA can pose unique challenges to the electrophysiologist during invasive EPS. […] Nearly a third of the patients have more than one arrhythmia mechanism, and one-fifth may require multiple ablative procedures for cure. […] The cumulative 70-year mortality in EA is reported to be 14.6%, with an incidence of sudden death being 2 per 1000 patient years. Strong predictors of sudden death include syncope, VT, heart failure, RV dysfunction, and TV surgery. […] 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. […] Current guidelines recommend preoperative EP study even in asymptomatic patients planned for surgical repair (class IIa, B-NR).

• #20 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. […] Prevalence has been described from 0.5-24 per 100,000 live births and is equally distributed among genders. […] Accessory pathways leading to ventricular pre-excitation are present in up to 30% of patients.

• #21 Ebstein’s Anomaly | IntechOpen

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

  Ebstein 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. […] Most EA cases are sporadic; familial ones are rare. […] EA occurs in about 1/200.000 live births. It accounts for no more than 0.30.5% of congenital heart disease. The male-female incidence is equal. […] There are heterogeneous genetic factors in EA. Most cases are sporadic; familial ones are rare. […] No specific cause has been consistently associated with EA. Based on retrospective case reporting, treatment with lithium during the first trimester of pregnancy was thought to be strongly associated, a 400-fold relative risk, with the occurrence of EA in the fetus. However, recent cohort and case-control epidemiologic studies have not confirmed these initial findings.

• #22 Ebstein’s Anomaly | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/ebsteins-anomaly

  Ebstein’s anomaly is a rare heart defect that affects the tricuspid valve. Ebstein’s anomaly has a wide range of severity — from mild to severe. About one in 10,000 babies is born with this condition. […] In some cases, Ebstein’s anomaly has been associated with lithium exposure, but in most cases the cause is unknown. […] Treatments for Ebstein’s anomaly are continually being refined, and the long-term outlook is continually improving. Most children who’ve had surgery recover and grow normally.

• #23 Ebstein’s Anomaly: Symptoms and Treatment | Doctor

  https://patient.info/doctor/ebsteins-anomaly-pro

  Ebstein’s anomaly is rare, with an incidence of approximately 1 in 20,000. […] Most cases are sporadic. Studies have shown both genetic and environmental risk factors: The anomaly is more common in twins and in those with a family history of congenital heart disease. Environmental factors found in studies include maternal exposure to benzodiazepines. Maternal lithium therapy can (rarely) lead to Ebstein’s anomaly in the baby.

• #24

  https://stacks.cdc.gov/view/cdc/81052/Share

  Maternal exposure to second-hand cigarette smoke at home and a family history of CHD were associated with elevated odds of Ebstein anomaly. […] Using national data, we examined 18 potential risk factors for Ebstein anomaly. […] Due to its rarity, risk factors for Ebstein anomaly remain largely unknown.

• #25 Ebstein Anomaly | Applied Radiology

  https://appliedradiology.com/articles/ebstein-anomaly

  Ebstein anomaly is a rare condition, accounting for 1% of all congenital heart disease. […] Ebstein anomaly is often diagnosed in utero. Routine prenatal ultrasound may show cardiomegaly, tachyarrhythmias, or hydrops fetalis. […] Once the condition is diagnosed, patients should typically undergo monitoring every 1-2 years with exercise tolerance testing, an electrocardiogram, and cardiac MRI to assess for new signs and symptoms, arrythmias, and progression of cardiac dysfunction. […] Prognosis varies with patient age and EA severity. When the condition is diagnosed during the prenatal or neonatal period, prognosis is typically poor with a 30% 1-year mortality rate. […] Diagnosis is confirmed on echocardiography or cardiac MRI. Ebstein anomaly is managed medically until surgical repair can be performed, and the prognosis is dependent on patient age and symptoms.

• #26 The changing epidemiology of Ebstein’s anomaly and its relationship with maternal mental health conditions: a European registry-based study | Cardiology in the Young | Cambridge Core

  https://www.cambridge.org/core/journals/cardiology-in-the-young/article/changing-epidemiology-of-ebsteins-anomaly-and-its-relationship-with-maternal-mental-health-conditions-a-european-registrybased-study/73EB8FF05623998DF2B7AB47A33E576E

  We estimate a prevalence of Ebsteins anomaly in Europe of 0.47 cases per 10,000 births, which is consistent with those in other populations. […] The significant increase in prevalence that we found from the 1980s to the 1990s may be due in part to the increase in prenatal diagnosis and in terminations of pregnancy for fetal anomaly. […] More than half of cases were prenatally diagnosed since the 1990s, mostly after 20 weeks of gestation.

• #27 Ebstein’s anomaly: contemporary management strategies – Sainathan – Journal of Thoracic Disease

  https://jtd.amegroups.org/article/view/37143/html

  Ebsteins anomaly (EA) is a rare congenital cardiac anomaly. It accounts for 1% incidence of all congenital cardiac anomalies. Presentation varies from a severe symptomatic form during the neonatal period to incidental detection later in life including late adulthood. […] Much of the mortality correlates to an early presentation such as a fetal presentation and echocardiographic severity. Later morbidity is due to gradual hemodynamic deterioration and development of arrythmias. […] A chest radiograph will show varying degrees of cardiomegaly. Cardiomegaly can be particularly massive in a neonate (wall to wall heart or a Box-shaped heart). A cardiothoracic ratio greater than 0.65 is prognostic for poor outcomes in a symptomatic neonate. […] EA is primarily diagnosed by echocardiography. Displacement of the septal leaflet of the TV 8 mm/m2 from the crux of the heart and presence of an elongated and redundant anterior leaflet of the TV increases the chance of a diagnosis of EA.

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

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

  EA is a rare disease, counting 12.6 cases per 200 000 of live births (1% of congenital heart disease). […] Contemporary survival at 10 years from the diagnosis or at an age of 60 years old is assessed 80% among unoperated subjects. […] Clinical and instrumental features associated with unfavourable clinical outcome are reported in online supplemental table 2. […] A clinical follow-up is recommended at least yearly in patients with EA, although the monitoring strategy is tailored according to patients specific features. […] Current achievements and knowledge gaps in EA multidisciplinary management are summarised in online supplemental table 4.

• #29 Ebstein’s anomaly: contemporary management strategies – Sainathan – Journal of Thoracic Disease

  https://jtd.amegroups.org/article/view/37143/html

  Preoperative electrophysiological evaluation should be considered especially in patients with preexcitation, documented arrhythmias or suspected arrhythmias. […] The burden of arrhythmias increases with increasing age. SVT is the most common arrhythmia in the younger age group. Atrial fibrillation or flutter is more common in older patients. […] Observation may be appropriate in asymptomatic patients with no right to left shunting, stable mild cardiomegaly and who have a good exercise tolerance. Operative indications include increasing cardiomegaly, increasing cyanosis, symptoms such as exercise intolerance and fatigue, paradoxical embolism, and new onset of atrial and ventricular arrhythmias. […] The goal is to achieve a biventricular repair. A 1.5 ventricle repair (valvuloplasty + BDG) may be needed in case there is significant RV dilation or dysfunction, the TV orifice area post valvuloplasty is inadequate to accommodate a full systemic venous return, or to protect a tenuous TV repair. […] Heart transplantation should be given consideration when the LV function is severely depressed.

• #30 Ebstein’s Anomaly | IntechOpen

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

  Ebsteins anomaly of the tricuspid valve is a rare congenital heart malformation that accounts for about 0.5% of all congenital heart defects and 0.005% of all live births. […] In a report from the Society of Thoracic Surgery (STS) Congenital Heart Surgery Database from 2010 to 2016, there were 494 patients with Ebsteins anomaly who received index operations in 95 centers. […] Given the low incidence of this defect, some centers will have limited experience managing patients with Ebsteins anomaly, suggesting the potential importance of regionalizing care in patients with more complex physiology. […] Neonates with Ebsteins anomaly presenting a dependency on prostaglandins or mechanical ventilation, worsening cyanosis or heart failure, anatomic pulmonary atresia, a circular shunt, will require surgical intervention during the neonatal period. […] A multicenter study conducted at excellent hospitals reported that surgical or catheter interventions carried high mortality (30%) in newborns with critical Ebsteins anomaly.

• #31 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. […] Patient presentation is variable due to the underlying heterogeneity of disease anatomy and physiology. Although most patients are diagnosed in infancy or childhood, the initial diagnosis may also occur in adulthood. […] Initial presentation of EA in adulthood is common, and natural history demonstrates decreased survival with biventricular failure. […] In a study by Attie et al., the estimated overall survival in unoperated patients with time zero at 25 years of age was 89, 81, 76, 53, and 41 at 1, 5, 10, 15, and 20 years of follow-up, respectively.

• #32 Ebstein Anomaly in an Asymptomatic Air Force Professional | Society for Cardiovascular Magnetic Resonance

  https://scmr.org/cases-of-scmr/number-11-22/

  Ebstein anomaly is a rare congenital disorder that occurs in approximately 1 out of every 200,000 live births and accounts for <1% of congenital heart disease. [...] While the overall prognosis for Ebstein anomaly is poor, most of the natural history trials were published prior to use of echocardiography and mainly included severe disease that was diagnosed as an infant. More recent data demonstrates that when Ebstein anomaly is initially diagnosed in adulthood, there are less associated cardiac defects, cyanosis is rare, and it is associated with a much lower mortality and morbidity. [...] Ebstein anomaly remains a rare type of congenital heart disease with many associated cardiac defects.

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

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

  Asymptomatic patients may be managed medically with observation for many years. […] Assessment of arrhythmias, progressive RV enlargement, and/or systolic function deterioration of the RV should be closely followed. […] Patients should be considered for operative intervention when they develop symptoms and/or worsening exercise capacity, cyanosis, paradoxical embolism, progressive RV dilation or dysfunction, and the onset of arrhythmias and when tricuspid repair is feasible and in a setting of low morbidity and mortality. […] In the largest published series of late operative outcomes for EA, overall late survival was 98, 94, 90, 86, and 76 at 1, 5, 10, 15, and 20 years, respectively. […] Freedom from late reoperation was 97, 91, 82, and 70 at 1, 5, 10, and 15 years, respectively. […] Patients with EA are at risk for late sudden death; factors associated with increased risk include prior ventricular tachycardia, heart failure symptoms, syncope, TV surgery, and pulmonary stenosis. […] Overall late functional assessments are limited. The largest study to date reported that late reoperation, rehospitalization, and atrial arrhythmias continue to be problematic for patients following surgical repair.

• #34 Narrative review of Ebstein’s anomaly beyond childhood: Imaging, surgery, and future perspectives – Neumann – Cardiovascular Diagnosis and Therapy

  https://cdt.amegroups.org/article/view/62524/html

  Some authors recommend early intervention in childhood at experienced centers to facilitate valve repair rather than replacement before the onset of progressive morphologic changes. […] In experienced centers, early mortality is low in tricuspid valve repair or replacement. The largest series of EA patients includes 539 patients with 604 operations from 1972 to 2006 at the Mayo Clinic. […] Given the more recent introduction of the cone reconstruction, long term results for comparison with these data are lacking. In a series of 235 patients with EA who underwent cone reconstruction at the Mayo Clinic from 2007 to 2015, overall survival at 6 years was 98% and freedom from TV replacement and late reoperation were 97.1% and 97.3%, respectively. […] Ultimately, treatment of arrhythmias requires further attention. The individuals risk of arrhythmias needs to be better defined to establish algorithms for the diagnostic process.

• #35

  https://malque.pub/ojs/index.php/mr/article/view/7763

  Ebstein’s anomaly is a rare congenital heart disease in which the leaflets of the tricuspid valve are displaced apically and culminate in an atrialized right ventricle, tricuspid regurgitation, and right-sided heart dysfunction. […] This review summarizes Ebstein’s anomaly in terms of its pathophysiology, prevalence, diagnostic advances, and treatment, highlighting lacunas and directions for future investigations. […] Advances in diagnostic imaging have enhanced the understanding and planning of surgery via 3D echocardiography and cardiac magnetic resonance imaging (MRI). […] There have been considerable advancements in the management and results of Ebstein’s anomaly.

• #36 Ebstein’s Anomaly: A Rare Disease Treated with World-class Care Here at Home | Newsroom

  https://news.unchealthcare.org/2021/10/ebsteins-anomaly-a-rare-disease-treated-with-world-class-care-here-at-home/

  The anomaly the doctors discovered is a rare congenital heart defect called Ebsteins Anomaly. This anomaly affects about one in 200,000 live births, and it accounts for less than 1% of congenital heart disease in the United States. […] Patients can live with this anomaly, if its very mild, for their whole life without requiring treatment, explains Dr. Sharma. Some patients on the other extreme, born with such a severe form of the defect, require something done or they die. The vast majority of patients are in the middle, and theyll come to develop symptoms like shortness of breath, palpitations, feeling less active, or getting short of breath with exertion at some point in their lifetime. […] The new partnership between UNC Health, Novant Health, and New Hanover Regional Medical Center has helped cement those relationships and open up care for additional members of the community across the state of North Carolina. This partnership will expand the recently approved relationship between these two organizations in New Hanover County to include Mecklenburg, Forsyth, and other counties, with an additional focus to find innovative solutions to enhance care in rural areas. This partnership is very exciting for us because we are providing regional pediatric subspecialty services both in their communities as well as quaternary care at the medical center here, explains Dr. Sharma.

• #37 EBSTEIN ANOMALY: A COMPLEX HEART DEFECT | Mya Care

  https://myacare.com/blog/ebstein-anomaly-a-complex-heart-defect

  Advances in medical imaging and personalized medicine are revolutionizing Ebstein Anomaly treatment. […] By leveraging these state-of-the-art technologies and advancements, healthcare providers can offer more personalized, effective, and innovative treatment options for individuals with Ebstein Anomaly, ultimately improving patient outcomes and quality of life.

• #38 What is Ebstein’s Anomaly? Symptoms, Tests & Treatment | MedStar Health

  https://www.medstarhealth.org/services/ebsteins-anomaly

  This rare condition accounts for less than 1 percent of all rare congenital heart defects. […] If youve been diagnosed with Ebsteins anomaly, youll need to see a specialist regularly to monitor your heart function and treat symptoms if necessary. […] Severe forms of Ebsteins anomaly will be diagnosed shortly after birth. However, mild forms may not cause symptoms until later in life. […] When youre born with a heart problem, you may need complex care throughout your life. Our experts tailor this specialized care to your unique needs.

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