MCID: EBS001
MIFTS: 44

Ebstein Anomaly malady

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Ebstein Anomaly

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Sources:
11Disease Ontology, 13DISEASES, 30ICD10, 31ICD10 via Orphanet, 32ICD9CM, 39MeSH, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet
See all MalaCards sources

Aliases & Descriptions for Ebstein Anomaly:

Name: Ebstein Anomaly 52 11 48 39 13
Ebstein's Anomaly 11 48
Ebstein's Anomaly of Common Atrioventricular Valve 11
Ebstein's Anomaly of Right Atrioventricular Valve 11
 
Ebstein Anomaly of the Tricuspid Valve 54
Ebstein's Anomaly of Tricuspid Valve 11
Ebstein's Malformation 48
Ebstein Malformation 54

Characteristics:

Orphanet epidemiological data:

54
ebstein anomaly of the tricuspid valve:
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Europe),1-9/100000 (France),1-5/10000 (Austria),1-9/100000 (Belgium),1-5/10000 (Croatia),1-5/10000 (Denmark),1-5/10000 (Germany),1-9/100000 (Hungary),1-9/100000 (Ireland),1-9/100000 (Italy),1-5/10000 (Malta),1-9/100000 (Netherlands),1-9/100000 (Poland),1-9/1000000 (Spain),1-5/10000 (Switzerland),1-9/100000 (United Kingdom),1-9/100000 (Ukraine),1-9/100000 (Norway); Age of onset: All ages; Age of death: any age

HPO:

64
ebstein anomaly:
Inheritance: autosomal recessive inheritance

Classifications:



External Ids:

OMIM52 224700
Disease Ontology11 DOID:14289
ICD1030 Q22.5
ICD9CM32 746.2
MeSH39 D004437
SNOMED-CT62 1796006, 204357006
NCIt45 C84681
Orphanet54 ORPHA1880
ICD10 via Orphanet31 Q22.5
UMLS via Orphanet69 C0013481

Summaries for Ebstein Anomaly

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OMIM:52 Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right... (224700) more...

MalaCards based summary: Ebstein Anomaly, also known as ebstein's anomaly, is related to cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome and craniosynostosis, and has symptoms including premature birth, atria septal defect and abnormality of the tricuspid valve. An important gene associated with Ebstein Anomaly is MYH7 (Myosin Heavy Chain 7), and among its related pathways are Cardiac Progenitor Differentiation and Heart Development. Affiliated tissues include heart, lung and liver.

Disease Ontology:11 A tricuspid valve disease that is a congenital heart defect in which the septal leaflet of the tricuspid valve is displaced towards the apex of the right ventricle of the heart.

NIH Rare Diseases:48 Ebstein's anomaly is a rare heart defect in which parts of the tricuspid valve (which separates the right ventricle from the right atrium) are abnormal. The abnormality causes the tricuspid valve to leak blood backwards into the right atrium. The  backup of blood flow can lead to heart swelling and fluid buildup in the lungs or liver. Sometimes, not enough blood gets out of the heart into the lungs and the person may appear blue. Symptoms range from mild to very severe. Treatment depends on the severity of the defect and may include medications, oxygen therapy, or surgery. Last updated: 4/30/2014

Related Diseases for Ebstein Anomaly

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Diseases related to Ebstein Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome10.2MYH7, NPPB
2craniosynostosis10.1MYH7, NPPB
3cardiomyopathy, hypertrophic 610.0MYH7, NKX2-5
4suppurative cholangitis9.9GDF1, NKX2-6
5second-degree atrioventricular block9.9GATA4, NKX2-5, NPPB
6univentricular heart with single atrio-ventricular valve9.9CRELD1, GATA4
7azygos continuation of the inferior vena cava9.9CRELD1, GATA4
8straddling and/or overriding mitral valve9.8CRELD1, GATA4
9left ventricular noncompaction9.8
10ventricular septal defect9.8
11hydrops fetalis9.8
12cardiomyopathy9.8
13partial duplication of the short arm of chromosome x9.8CRELD1, GATA4
14ichthyosis lamellar 29.8NKX2-5, NPPB
15autonomic neuropathy9.8CRELD1, NPPB
166-phosphogluconate dehydrogenase deficiency9.7GATA4, NKX2-5, NKX2-6
17thiamine-responsive megaloblastic anemia syndrome9.7
18williams-beuren syndrome9.7
19tetralogy of fallot9.7
20hypoplastic left heart syndrome9.7
21atrioventricular septal defect9.7
22tricuspid valve disease9.7
23heart disease9.7
24sick sinus syndrome9.7
25meige syndrome9.7
26left ventricular outflow tract obstruction9.7
27pseudo-meigs syndrome9.7
28right aortic arch9.7
29congenitally corrected transposition of the great arteries9.7
30transposition of the great arteries9.7
31photokeratitis9.6GATA4, NKX2-5, NKX2-6
32huriez syndrome9.6CRELD1, NKX2-6
33testicular trophoblastic tumor9.5CRELD1, NKX2-6
34childhood parosteal osteogenic sarcoma9.5CRELD1, NKX2-6
35adams-oliver syndrome 59.4CRELD1, NKX2-6, NPPB
36pyelonephritis9.4GATA4, NKX2-5, NKX2-6, NPPB
37ceroid lipofuscinosis, neuronal, 69.4CRELD1, NKX2-6, NPPB
38cervical adenoid basal carcinoma9.4CRELD1, GATA4, NKX2-6
39pancreatic serous cystadenocarcinoma9.4CRELD1, GATA4, NKX2-6
40pericardium disease8.7CRELD1, GDF1, MYH7, NKX2-6, NPPB
41melanotic neuroectodermal tumor8.7GATA4, GDF1, MYH7, NKX2-5, NKX2-6, NPPB
42viral hepatitis8.6CRELD1, GATA4, GDF1, NKX2-5, NKX2-6
43fetal alcohol syndrome8.6CRELD1, GATA4, GDF1, NKX2-5, NKX2-6
44neovascular glaucoma8.6CRELD1, GATA4, GDF1, NKX2-5, NKX2-6
45dhdds-cdg8.6CRELD1, GATA4, GDF1, NKX2-5, NKX2-6
46surfactant metabolism dysfunction, pulmonary, 28.6CRELD1, GATA4, GDF1, NKX2-5, NKX2-6
47neuroendocrine tumor8.3CRELD1, GATA4, GDF1, NKX2-5, NKX2-6, NPPB
48slowed nerve conduction velocity, ad8.2CRELD1, GATA4, GDF1, NKX2-5, NKX2-6, NPPB
49macroglossia7.5CRELD1, GATA4, GDF1, MYH7, NKX2-5, NKX2-6

Graphical network of the top 20 diseases related to Ebstein Anomaly:



Diseases related to ebstein anomaly

Symptoms & Phenotypes for Ebstein Anomaly

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Symptoms by clinical synopsis from OMIM:

224700

Clinical features from OMIM:

224700

Human phenotypes related to Ebstein Anomaly:

 64 54 (show all 21)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature birth64 54 hallmark (90%) Very frequent (99-80%) HP:0001622
2 atria septal defect64 hallmark (90%) HP:0001631
3 abnormality of the tricuspid valve64 hallmark (90%) HP:0001702
4 respiratory insufficiency64 54 hallmark (90%) Very frequent (99-80%) HP:0002093
5 patent ductus arteriosus64 54 typical (50%) Frequent (79-30%) HP:0001643
6 chest pain64 54 typical (50%) Frequent (79-30%) HP:0100749
7 congestive heart failure64 54 occasional (7.5%) Occasional (29-5%) HP:0001635
8 sudden cardiac death64 54 occasional (7.5%) Occasional (29-5%) HP:0001645
9 cerebral ischemia64 54 occasional (7.5%) Occasional (29-5%) HP:0002637
10 abnormality of the endocardium64 54 occasional (7.5%) Occasional (29-5%) HP:0004306
11 arterial thrombosis64 54 occasional (7.5%) Occasional (29-5%) HP:0004420
12 ventricular preexcitation64 HP:0004309
13 atrial fibrillation64 54 Frequent (79-30%) HP:0005110
14 ebstein's anomaly of the tricuspid valve64 54 Very frequent (99-80%) HP:0010316
15 right bundle branch block64 54 Frequent (79-30%) HP:0011712
16 defect in the atrial septum54 Very frequent (99-80%)
17 abnormality of the cardiac septa54 Frequent (79-30%)
18 malformation of the heart and great vessels54 Very frequent (99-80%)
19 imperforate tricuspid valve54 Very frequent (99-80%)
20 arrhythmia54 Frequent (79-30%)
21 fatigue54 Very frequent (99-80%)

Drugs & Therapeutics for Ebstein Anomaly

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Autologous Bone Marrow Derived Mononuclear Cells for Treatment of Ebstein AnomalyRecruitingNCT02914171Phase 1
2Behaviour of Tricuspid Valve Regurgitation in Volume and/or Pressure Loaded Right HeartUnknown statusNCT01444222
3Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic MethodsCompletedNCT01907971
4Genes Causing Ebstein's AnomalyCompletedNCT00497705

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Cochrane evidence based reviews: ebstein anomaly

Genetic Tests for Ebstein Anomaly

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Anatomical Context for Ebstein Anomaly

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MalaCards organs/tissues related to Ebstein Anomaly:

36
Heart, Lung, Liver, Bone

Publications for Ebstein Anomaly

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Articles related to Ebstein Anomaly:

(show top 50)    (show all 143)
idTitleAuthorsYear
1
Assessment of Progressive Pathophysiology After Early Prenatal Diagnosis of the Ebstein Anomaly or Tricuspid Valve Dysplasia. (27793395)
2017
2
Prevention preferable to treatment: 3 case reports of patients experiencing right-sided heart failure after Ebstein anomaly correction. (28072699)
2017
3
More than valve repair: Effect of cone reconstruction on right ventricular geometry and function in patients with Ebstein anomaly. (26788689)
2016
4
Left Ventricular Assist Device Insertion in a Patient With Biventricular Noncompaction Cardiomyopathy, Ebstein Anomaly, and a Left Atrial Mass: A Case Report. (27749293)
2016
5
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. (27788187)
2016
6
Single-Ventricle Outcomes After Neonatal Palliation of Severe Ebstein Anomaly With Modified Starnes Procedure. (27777295)
2016
7
Contemporary Outcomes and Factors Associated With Mortality After a Fetal or Neonatal Diagnosis of Ebstein Anomaly and Tricuspid Valve Disease. (27476984)
2016
8
Natural Course of Adult Ebstein Anomaly When Treated according to Current Recommendation. (27709852)
2016
9
Intramyocardial Hematoma After Ebstein Anomaly Repair: A Case of Unexpected Diagnosis and Its Management. (27098604)
2016
10
Catheter ablation of multiple accessory pathways in Ebstein anomaly guided by intracardiac echocardiography. (26851810)
2016
11
Case of Ebstein Anomaly Complicated by Left Ventricular Outflow Tract Obstruction Secondary to Deformed Basal Septum Attributable to Atrialized Right Ventricle. (26811277)
2016
12
An Approach to Endovascular Ventricular Pacing in a Patient with Ebstein Anomaly and a Mechanical Tricuspid Valve. (26920188)
2016
13
Application of Cone Reconstruction for Neonatal Ebstein Anomaly or Tricuspid Valve Dysplasia. (26916715)
2016
14
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo I+-tropomyosin gene mutation. (27177193)
2016
15
Cone Reconstruction of Atypical Ebstein Anomaly Associated with Right Ventricular Apical Hypoplasia. (27047292)
2016
16
Tricuspid Valve Re-Repair in Ebstein Anomaly Using the Cone Technique. (26889444)
2016
17
Individualized Surgical Treatments for Children with Ebstein Anomaly. (27509000)
2016
18
Clinical characteristics and outcomes in pregnant women with Ebstein anomaly at the time of delivery in the USA: 2003-2012. (27079467)
2016
19
Ebstein anomaly review: what's now, what's next? (26357983)
2015
20
Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era: A Multicenter Study. (26059011)
2015
21
Biventricular Badness: Rare Images of Ebstein Anomaly of the Tricuspid Valve in a Patient with Hypoplastic Left Heart Syndrome. (25854848)
2015
22
Optimal Surgical Ablation of Atrial Tachyarrhythmias During Correction of Ebstein Anomaly. (25825196)
2015
23
Caution: There is no "all or none" with Ebstein anomaly. (26546202)
2015
24
Case 1/2015. A 76-year-old male patient with Ebstein anomaly in natural course. (25714409)
2015
25
Demonstration of circular shunt in fetal Ebstein anomaly. (26556976)
2015
26
Ebstein Anomaly: An Overview for Nursing. (26395651)
2015
27
Partial PFO Closure for Persistent Hypoxemia in a Patient with Ebstein Anomaly. (25945265)
2015
28
Development of Left Atrial Thrombus and Subsequent Cardioembolic Stroke in a 21-Year-Old Man With Ebstein Anomaly Who Previously Underwent Pulmonary Vein Isolation Ablation and Cox Maze III Procedure: Significance of Left Atrial Mechanical Function. (25802257)
2015
29
Nonimmune hydrops fetalis with ebstein anomaly. (25148508)
2014
30
Ebstein anomaly: a review. (25161135)
2014
31
Successful treatment of a rare case of neonatal Ebstein anomaly in a very low-birth-weight premature neonate. (24943125)
2014
32
Entirely subcutaneous implantable defibrillator: safest option in a young girl with ventricular tachycardia and Ebstein anomaly. (24736427)
2014
33
Ebstein anomaly and Trisomy 21: A rare association. (24701093)
2014
34
Detection of right ventricle thrombosis in patient with Ebstein anomaly of tricuspid valve after Fontan procedure by CT. (24939075)
2014
35
Right ventricular endomyocardial fibrosis mimicking Ebstein anomaly in a patient with BehAset's disease: case report and review of the literature. (24533554)
2014
36
The total right/left-volume index: a new and simplified cardiac magnetic resonance measure to evaluate the severity of Ebstein anomaly of the tricuspid valve: a comparison with heart failure markers from various modalities. (24807407)
2014
37
An unusual ultrasonographic manifestation of a fetal Ebstein anomaly. (25469344)
2014
38
Direct percutaneous implantation of an Edwards-SAPIEN valve in tricuspid position in a degenerated bioprosthesis in a patient with Ebstein anomaly. (25172078)
2014
39
Ebstein anomaly: assessment, management, and timing of intervention. (25145925)
2014
40
Increased risk of possible paradoxical embolic events in adults with ebstein anomaly and severe tricuspid regurgitation. (23601093)
2014
41
Aortic saddle embolism caused by right ventricle thrombus in a 2-year-old girl with Ebstein anomaly and Glenn shunt. (24566489)
2014
42
Neonatal double switch for congenitally corrected transposition with Ebstein anomaly and bilateral superior venae cavae. (25284207)
2014
43
Cone Reconstruction in Children with Ebstein Anomaly: The Mayo Clinic Experience. (24373319)
2013
44
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7. (23794396)
2013
45
Surgical management of a neonate with congenitally corrected transposition of the great vessels, hypoplastic right aortic arch, and Ebstein anomaly. (23947600)
2013
46
When lithium hurts: a look at Ebstein anomaly. (23269033)
2013
47
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report. (24357267)
2013
48
Incidental gossypiboma discovered during tricuspid valve re-repair 11 years after ebstein anomaly repair. (23958535)
2013
49
QRS duration and QRS fractionation on surface electrocardiogram are markers of right ventricular dysfunction and atrialization in patients with Ebstein anomaly. (23117161)
2013
50
Right heart characteristics and exercise parameters in adults with Ebstein anomaly: new perspectives from cardiac magnetic resonance imaging studies. (21872945)
2013

Variations for Ebstein Anomaly

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Expression for genes affiliated with Ebstein Anomaly

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Search GEO for disease gene expression data for Ebstein Anomaly.

Pathways for genes affiliated with Ebstein Anomaly

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GO Terms for genes affiliated with Ebstein Anomaly

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Cellular components related to Ebstein Anomaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor complexGO:00905759.7GATA4, NKX2-5

Biological processes related to Ebstein Anomaly according to GeneCards Suite gene sharing:

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1adult heart developmentGO:000751210.4MYH7, NKX2-5
2cardiac muscle contractionGO:006004810.3MYH7, NKX2-5
3atrial septum morphogenesisGO:006041310.3GATA4, NKX2-5
4cardiac muscle cell differentiationGO:005500710.3GATA4, NKX2-5
5cardiac ventricle morphogenesisGO:000320810.3GATA4, NKX2-5
6BMP signaling pathwayGO:003050910.2GDF1, NKX2-5
7atrial cardiac muscle cell developmentGO:005501410.1NKX2-5, NKX2-6
8heart loopingGO:000194710.1GATA4, NKX2-5
9cell developmentGO:004846810.1GATA4, GDF1
10embryonic heart tube developmentGO:003505010.0NKX2-5, NKX2-6
11positive regulation of cardioblast differentiationGO:00518919.9GATA4, NKX2-5
12pharyngeal system developmentGO:00600379.8NKX2-5, NKX2-6
13endocardial cushion developmentGO:00031979.8CRELD1, GATA4
14ventricular cardiac muscle cell developmentGO:00550159.5NKX2-5, NKX2-6

Sources for Ebstein Anomaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet