MCID: EBS001
MIFTS: 45

Ebstein Anomaly malady

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Ebstein Anomaly

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Sources:
11Disease Ontology, 13DISEASES, 27GTR, 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 27
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 frontonasal dysplasia with alar clefts and sudden infant death syndrome, and has symptoms including Array, Array and Array. 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.

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

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.

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 top 50)    (show all 60)
idRelated DiseaseScoreTop Affiliating Genes
1frontonasal dysplasia with alar clefts10.2MYH7, NPPB
2sudden infant death syndrome10.2MYH7, NKX2-5
3glycogen storage disease of heart, lethal congenital10.1MYH7, NKX2-5
4brachyolmia type 310.1MYH7, NKX2-5
5pervasive developmental disorder10.1MYH7, NPPB
6ichthyosis lamellar 310.1NKX2-5, NPPB
7median neuropathy10.1NKX2-6, NPPB
8congenital diarrhea 7 with exudative enteropathy10.0GDF1, NKX2-6
9third-degree atrioventricular block10.0GATA4, NKX2-5, NPPB
10right inferior vena cava connecting to left-sided atrium10.0CRELD1, GATA4
11left superior vena cava persisting to left-sided atrium10.0CRELD1, GATA4
12testicular pure germ cell tumor10.0CRELD1, NPPB
13persistent eustachian valve10.0CRELD1, GATA4
14congenital benign spinal muscular atrophy dominant10.0CRELD1, GATA4
15american histoplasmosis10.0CRELD1, NPPB
16pauciarticular chronic arthritis10.0CRELD1, GATA4
17ceroid lipofuscinosis, neuronal, kufs type, adult onset10.0MYH7, NKX2-6, NPPB
18suppurative otitis media10.0CRELD1, NPPB
19deafness, autosomal recessive 799.9NKX2-6, NPPB
20ascending cholangitis9.9GDF1, NKX2-6, NPPB
21dentine erosion9.9GATA4, NKX2-5, NKX2-6
22huriez syndrome9.9CRELD1, NKX2-6
23fetal alcohol syndrome9.9GATA4, NKX2-5, NKX2-6
24emery-dreifuss muscular dystrophy, dominant type9.9GATA4, MYH7, NKX2-5, NPPB
25left ventricular noncompaction9.8
26endomyocardial fibrosis9.8
27hydrops fetalis9.8
28cardiomyopathy9.8
29testicular germ cell tumor non-seminomatous9.8CRELD1, NKX2-6
30cerebral convexity meningioma9.8CRELD1, NPPB
31vulvar apocrine adenocarcinoma9.8CRELD1, GATA4, NKX2-6
32vulvar sebaceous carcinoma9.8CRELD1, GATA4, NKX2-6
33thiamine-responsive megaloblastic anemia syndrome9.7
34williams-beuren syndrome9.7
35tetralogy of fallot9.7
36hypoplastic left heart syndrome9.7
37atrioventricular septal defect9.7
38tricuspid valve disease9.7
39thrombosis9.7
40heart disease9.7
41megaloblastic anemia9.7
42sick sinus syndrome9.7
43ventricular septal defect9.7
44meige syndrome9.7
45left ventricular outflow tract obstruction9.7
46pseudo-meigs syndrome9.7
47right aortic arch9.7
48congenitally corrected transposition of the great arteries9.7
49transposition of the great arteries9.7
50xanthogranulomatous pyelonephritis9.7GATA4, MYH7, NKX2-5, NKX2-6, NPPB

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:

 54 64 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature birth64 54 Very frequent (99-80%) HP:0001622
2 atria septal defect54 Very frequent (99-80%)
3 congestive heart failure64 54 Occasional (29-5%) HP:0001635
4 patent ductus arteriosus64 54 Frequent (79-30%) HP:0001643
5 sudden cardiac death64 54 Occasional (29-5%) HP:0001645
6 abnormality of the cardiac septa54 Frequent (79-30%)
7 respiratory insufficiency64 54 Very frequent (99-80%) HP:0002093
8 malformation of the heart and great vessels54 Very frequent (99-80%)
9 cerebral ischemia64 54 Occasional (29-5%) HP:0002637
10 abnormality of the endocardium64 54 Occasional (29-5%) HP:0004306
11 arterial thrombosis64 54 Occasional (29-5%) HP:0004420
12 atrial fibrillation64 54 Frequent (79-30%) HP:0005110
13 ebstein's anomaly of the tricuspid valve64 54 Very frequent (99-80%) HP:0010316
14 imperforate tricuspid valve64 54 Very frequent (99-80%) HP:0011575
15 arrhythmia54 Frequent (79-30%)
16 right bundle branch block64 54 Frequent (79-30%) HP:0011712
17 fatigue64 54 Very frequent (99-80%) HP:0012378
18 chest pain64 54 Frequent (79-30%) HP:0100749
19 atrial septal defect64 HP:0001631
20 ventricular preexcitation64 HP:0004309

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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Genetic tests related to Ebstein Anomaly:

id Genetic test Affiliating Genes
1 Ebstein's Anomaly27

Anatomical Context for Ebstein Anomaly

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MalaCards organs/tissues related to Ebstein Anomaly:

36
Heart, Lung, Liver

Publications for Ebstein Anomaly

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Articles related to Ebstein Anomaly:

(show top 50)    (show all 147)
idTitleAuthorsYear
1
Assessment of Progressive Pathophysiology After Early Prenatal Diagnosis of the Ebstein Anomaly or Tricuspid Valve Dysplasia. (27793395)
2017
2
Ebstein Anomaly. (28457239)
2017
3
Prevention preferable to treatment: 3 case reports of patients experiencing right-sided heart failure after Ebstein anomaly correction. (28072699)
2017
4
Modified Cone Reconstruction of the Tricuspid Valve for Ebstein Anomaly as Performed in Siberia. (28265211)
2017
5
Ebstein Anomaly With QRS Fragmentation on Electrocardiogram. (28203575)
2017
6
Surgical Strategy Toward Biventricular Repair for Severe Ebstein Anomaly in Neonates and Infancy. (28434546)
2017
7
Tricuspid Valve Re-Repair in Ebstein Anomaly Using the Cone Technique. (26889444)
2016
8
More than valve repair: Effect of cone reconstruction on right ventricular geometry and function in patients with Ebstein anomaly. (26788689)
2016
9
Natural Course of Adult Ebstein Anomaly When Treated according to Current Recommendation. (27709852)
2016
10
Catheter ablation of multiple accessory pathways in Ebstein anomaly guided by intracardiac echocardiography. (26851810)
2016
11
An Approach to Endovascular Ventricular Pacing in a Patient with Ebstein Anomaly and a Mechanical Tricuspid Valve. (26920188)
2016
12
Single-Ventricle Outcomes After Neonatal Palliation of Severe Ebstein Anomaly With Modified Starnes Procedure. (27777295)
2016
13
Intramyocardial Hematoma After Ebstein Anomaly Repair: A Case of Unexpected Diagnosis and Its Management. (27098604)
2016
14
Cone Reconstruction of Atypical Ebstein Anomaly Associated with Right Ventricular Apical Hypoplasia. (27047292)
2016
15
Application of Cone Reconstruction for Neonatal Ebstein Anomaly or Tricuspid Valve Dysplasia. (26916715)
2016
16
Ebstein Anomaly in Pregnancy. (28143995)
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, left ventricular non-compaction, and early onset heart failure associated with a de novo I+-tropomyosin gene mutation. (27177193)
2016
20
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. (27788187)
2016
21
Case of Ebstein Anomaly Complicated by Left Ventricular Outflow Tract Obstruction Secondary to Deformed Basal Septum Attributable to Atrialized Right Ventricle. (26811277)
2016
22
Contemporary Outcomes and Factors Associated With Mortality After a Fetal or Neonatal Diagnosis of Ebstein Anomaly and Tricuspid Valve Disease. (27476984)
2016
23
Left Ventricular Assist Device Insertion in a Patient With Biventricular Noncompaction Cardiomyopathy, Ebstein Anomaly, and a Left Atrial Mass: A Case Report. (27749293)
2016
24
Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era: A Multicenter Study. (26059011)
2015
25
Ebstein anomaly review: what's now, what's next? (26357983)
2015
26
Ebstein Anomaly: An Overview for Nursing. (26395651)
2015
27
Demonstration of circular shunt in fetal Ebstein anomaly. (26556976)
2015
28
Optimal Surgical Ablation of Atrial Tachyarrhythmias During Correction of Ebstein Anomaly. (25825196)
2015
29
Case 1/2015. A 76-year-old male patient with Ebstein anomaly in natural course. (25714409)
2015
30
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
31
Partial PFO Closure for Persistent Hypoxemia in a Patient with Ebstein Anomaly. (25945265)
2015
32
Caution: There is no "all or none" with Ebstein anomaly. (26546202)
2015
33
Biventricular Badness: Rare Images of Ebstein Anomaly of the Tricuspid Valve in a Patient with Hypoplastic Left Heart Syndrome. (25854848)
2015
34
Detection of right ventricle thrombosis in patient with Ebstein anomaly of tricuspid valve after Fontan procedure by CT. (24939075)
2014
35
Neonatal double switch for congenitally corrected transposition with Ebstein anomaly and bilateral superior venae cavae. (25284207)
2014
36
Successful treatment of a rare case of neonatal Ebstein anomaly in a very low-birth-weight premature neonate. (24943125)
2014
37
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
38
An unusual ultrasonographic manifestation of a fetal Ebstein anomaly. (25469344)
2014
39
Entirely subcutaneous implantable defibrillator: safest option in a young girl with ventricular tachycardia and Ebstein anomaly. (24736427)
2014
40
Direct percutaneous implantation of an Edwards-SAPIEN valve in tricuspid position in a degenerated bioprosthesis in a patient with Ebstein anomaly. (25172078)
2014
41
Nonimmune hydrops fetalis with ebstein anomaly. (25148508)
2014
42
Increased risk of possible paradoxical embolic events in adults with ebstein anomaly and severe tricuspid regurgitation. (23601093)
2014
43
Ebstein anomaly: assessment, management, and timing of intervention. (25145925)
2014
44
Aortic saddle embolism caused by right ventricle thrombus in a 2-year-old girl with Ebstein anomaly and Glenn shunt. (24566489)
2014
45
Ebstein anomaly and Trisomy 21: A rare association. (24701093)
2014
46
Right ventricular endomyocardial fibrosis mimicking Ebstein anomaly in a patient with BehAset's disease: case report and review of the literature. (24533554)
2014
47
Ebstein anomaly: a review. (25161135)
2014
48
Case 6/2013: 56 years old woman with Ebstein anomaly in heart failure. (24522278)
2013
49
When lithium hurts: a look at Ebstein anomaly. (23269033)
2013
50
QRS duration and QRS fractionation on surface electrocardiogram are markers of right ventricular dysfunction and atrialization in patients with Ebstein anomaly. (23117161)
2013

Variations for Ebstein Anomaly

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Clinvar genetic disease variations for Ebstein Anomaly:

5
id Gene Variation Type Significance SNP ID Assembly Location
1MYH7NM_ 000257.3(MYH7): c.3658_ 3660delGAG (p.Glu1220del)deletionLikely pathogenicrs397516190GRCh37Chr 14, 23889120: 23889122

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 12)
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:000320810.2GATA4, NKX2-5
6heart loopingGO:000194710.1GATA4, NKX2-5
7atrial cardiac muscle cell developmentGO:005501410.1NKX2-5, NKX2-6
8embryonic heart tube developmentGO:003505010.0NKX2-5, NKX2-6
9positive regulation of cardioblast differentiationGO:00518919.9GATA4, NKX2-5
10pharyngeal system developmentGO:00600379.8NKX2-5, NKX2-6
11endocardial cushion developmentGO:00031979.8CRELD1, GATA4
12ventricular 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