MCID: EBS001
MIFTS: 52

Ebstein Anomaly malady

Cardiovascular diseases, Fetal diseases categories

Summaries for Ebstein Anomaly

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46OMIM, 32MalaCards
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MalaCards: Ebstein Anomaly, also known as ebstein malformation, is related to ventricular septal defect and hypertrophic cardiomyopathy, and has symptoms including cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block, endocardium anomalies/fibroelastosis/endocarditis and collapse/sudden death/cardiac arrest/cardiorespiratory arrest. An important gene associated with Ebstein Anomaly is MYH7 (myosin, heavy chain 7, cardiac muscle, beta), and among its related pathways are Cardiac Progenitor Differentiation and HOP Signaling. The compounds mcat and phenylephrine have been mentioned in the context of this disorder. Affiliated tissues include heart and lung, and related mouse phenotypes are respiratory system and muscle.

Description from OMIM:46 224700

Aliases & Classifications for Ebstein Anomaly

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 46OMIM, 56SNOMED-CT, 39NCIt, 60UMLS, 34MeSH, 27ICD9CM, 57SNOMED-CT via Orphanet, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Cardiovascular diseases


Characteristics (Orphanet epidemiological data):

48
ebstein malformation:
Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

ebstein anomaly 8 42 10
ebstein malformation 48 46
ebstein's anomaly 8 42
ebstein's anomaly of common atrioventricular valve 8
ebstein's anomaly of right atrioventricular valve 8
ebstein anomaly of the tricuspid valve 48
ebstein's anomaly of tricuspid valve 8
ebstein's malformation 42


External Ids:

Disease Ontology8 DOID:14289
OMIM46 224700
NCIt39 C84681
MeSH34 D004437
ICD9CM27 746.2
SNOMED-CT via Orphanet57 253443005, 253468007, 204357006
ICD10 via Orphanet26 Q22.5
ICD1025 Q22.5

Related Diseases for Ebstein Anomaly

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Sources:
17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Ebstein Anomaly:



Diseases related to ebstein anomaly

Clinical Features for Ebstein Anomaly

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46OMIM, 48Orphanet
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Clinical features from OMIM:

224700

Clinical synopsis from OMIM:

224700

Symptoms:

48 (show all 19)
  • cardiac conduction defect/sinoauricular/heart/auriculoventricular/branch block
  • endocardium anomalies/fibroelastosis/endocarditis
  • collapse/sudden death/cardiac arrest/cardiorespiratory arrest
  • heart/cardiac failure
  • arterial embolism/thrombosis
  • arterial pulse abolition
  • transient cerebral ischemia/stroke
  • cardiac rhythm disorder/arrhythmia
  • patent ductus arteriosus
  • cardiac septal defect
  • tricuspid valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly
  • tricuspid valve atresia/stenosis/narrowing
  • congenital cardiac anomaly/malformation/cardiopathy
  • atrial septal defect/interauricular communication
  • autosomal recessive inheritance
  • asthenia/fatigue/weakness
  • prematurity
  • thoracic/chest pain
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction

Drugs & Therapeutics for Ebstein Anomaly

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Ebstein Anomaly

Drug clinical trials:

Search ClinicalTrials for Ebstein Anomaly

Search NIH Clinical Center for Ebstein Anomaly

Search CenterWatch for Ebstein Anomaly

Genetic Tests for Ebstein Anomaly

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Anatomical Context for Ebstein Anomaly

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Sources:
32MalaCards
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MalaCards organs/tissues related to Ebstein Anomaly:

32
Heart, Lung

Animal Models for Ebstein Anomaly or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Ebstein Anomaly:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.8LIMS1, TBX1, NKX2-5, GATA4
2MP:00053698.3LIMS1, TBX1, NKX2-5, GATA4, NPPB
3MP:00053858.0NPPB, GATA4, NKX2-5, TBX1, LIMS1
4MP:00028737.9GATA4, RBM41, NKX2-5, TBX1, LIMS1

Publications for Ebstein Anomaly

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50PubMed
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Articles related to Ebstein Anomaly:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Increased risk of possible paradoxical embolic events in adults with ebstein anomaly and severe tricuspid regurgitation. (23601093)
2014
2
Incidental gossypiboma discovered during tricuspid valve re-repair 11 years after ebstein anomaly repair. (23958535)
2013
3
QRS duration and QRS fractionation on surface electrocardiogram are markers of right ventricular dysfunction and atrialization in patients with Ebstein anomaly. (23117161)
2013
4
Fragmented QRS Complex in Adult Patients With Ebstein Anomaly and Its Association With Arrhythmic Risk and the Severity of the Anomaly. (24235269)
2013
5
Surgical management of a neonate with congenitally corrected transposition of the great vessels, hypoplastic right aortic arch, and Ebstein anomaly. (23947600)
2013
6
Risk factors for maternal and fetal outcome in pregnancy complicated by Ebstein anomaly. (23860210)
2013
7
Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation. (23956225)
2013
8
Critical Ebstein anomaly in a fetus successfully managed by elective preterm delivery and surgical intervention without delay after birth. (21947353)
2012
9
Individualized quantified tricuspid valve annuloplasty for treating Ebstein anomaly. (22953685)
2012
10
Diagnosis and management of ebstein anomaly of the tricuspid valve. (23001420)
2012
11
Implantation of a Right Ventricular Implantable Cardioverter-Defibrillator Lead in the Right Ventricular Outflow Tract in a Patient with Ebstein Anomaly and Right Ventricular Lead Dislocation. (23258759)
2012
12
Natural history of exercise function in patients with Ebstein anomaly: A serial study. (22424021)
2012
13
Right ventricular endomyocardial fibrosis mimicking Ebstein anomaly in a patient with BehAset's disease: case report and review of the literature. (23207789)
2012
14
Heart rupture and tamponade with a short review of cause of death in Ebstein anomaly. (22953686)
2012
15
Acute severe hypoxaemia after mechanical ventilation in a patient with an Ebstein anomaly requiring extracorporeal membrane oxygenation. (22088878)
2011
16
Cardiac magnetic resonance imaging and the assessment of ebstein anomaly in adults. (21247528)
2011
17
Epidemiology of Ebstein anomaly: prevalence and patterns in Texas, 1999-2005. (21465650)
2011
18
Pure duplication of the distal long arm of chromosome 15 with ebstein anomaly and clavicular anomaly. (23074681)
2011
19
Complete repair of Ebstein anomaly in neonates and young infants: a 16-year follow-up. (21353250)
2011
20
Cardiac memory in Ebstein anomaly. (20962340)
2010
21
Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan's syndrome. (20352138)
2010
22
Comparison of the outcome of porcine bioprosthetic versus mechanical prosthetic replacement of the tricuspid valve in the Ebstein anomaly. (19195520)
2009
23
Bioprosthetic tricuspid valve dehiscence in a patient with Ebstein anomaly. (19876441)
2009
24
Can we modify late functional outcome in Ebstein anomaly by altering surgical strategy? (18672168)
2008
25
Multislice computed tomography angiography of Ebstein anomaly and anomalous coronary artery. (19083904)
2007
26
Early and midterm results in anatomic repair of Ebstein anomaly. (18023660)
2007
27
Surgery of Ebstein anomaly. (17976497)
2007
28
Results of the 1.5-ventricle repair for Ebstein anomaly and the failing right ventricle. (17467446)
2007
29
Current surgical therapy for Ebstein anomaly in neonates. (17140943)
2006
30
Repair of Ebstein anomaly: early and mid-term results. (17061609)
2006
31
Sonographic features of Ebstein anomaly associated with hydrops fetalis: a report of two cases. (15756659)
2005
32
Pseudo-Meigs' syndrome caused by retroperitoneal tumor in a patient with Ebstein anomaly. (16136373)
2005
33
Left heart lesions in patients with Ebstein anomaly. (15757018)
2005
34
Ebstein anomaly associated with unusual conduction delay and sick sinus syndrome. (15226641)
2004
35
Repair of the Ebstein anomaly. (15514626)
2004
36
Supraventricular tachyarrhythmias in Ebstein anomaly: management and outcome. (15573066)
2004
37
Case 71: Ebstein anomaly. (15163815)
2004
38
Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9. (12746392)
2003
39
Cardiac blood-filled cyst at the atrialized portion of the right ventricle in a patient with ebstein anomaly: a case report. (10917970)
2000
40
Rapid two-stage repair of S,L,L, ventricular septal defect, pulmonary atresia, Ebstein anomaly of the tricuspid valve, and stenotic pulmonary arteries. (10475437)
1999
41
Nongeometric quantitative assessment of right and left ventricular function: myocardial performance index in normal children and patients with Ebstein anomaly. (9758376)
1998
42
Ebstein anomaly associated with rearrangements of chromosomal region 11q. (9805133)
1998
43
Complete atrioventricular septal defect and Ebstein anomaly. (8778708)
1996
44
Rheumatic mitral stenosis with Ebstein anomaly of tricuspid valve. (7607773)
1995
45
Pulmonary atresia, intact ventricular septum, and Ebstein anomaly of the tricuspid valve. Anatomic and surgical considerations. (8341066)
1993
46
Ebstein anomaly: report of a familial occurrence and prenatal diagnosis. (1536167)
1992
47
Potential role of MR imaging in the diagnostic management of Ebstein anomaly in a newborn. (2398170)
1990
48
Cine-computed tomography of Ebstein anomaly. (3734206)
1986
49
A case of Ebstein anomaly. (6680337)
1983
50
AN UNUSUAL CARDIAC ANOMALY: EBSTEIN-LIKE MALFORMATION OF THE LEFT ATRIOVENTRICULAR VALVE, MASQUERADING AS A DEXTROCARDIA. REPORT OF A CASE. (14088378)
1963

Genetic Variations for Ebstein Anomaly

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Expression for genes affiliated with Ebstein Anomaly

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Ebstein Anomaly

Search GEO for disease gene expression data for Ebstein Anomaly.

Pathways for genes affiliated with Ebstein Anomaly

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Sources:
37NCBI BioSystems Database, 51QIAGEN
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Pathways related to Ebstein Anomaly according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7NKX2-5, GATA4
29.7NKX2-5, GATA4
39.3TBX1, NKX2-5, GATA4
4
Hide members
8.8NPPB, GATA4, NKX2-5, MYH7
58.8MYH7, NKX2-5, GATA4, NPPB

Compounds for genes affiliated with Ebstein Anomaly

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB, 59Tocris Bioscience
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Compounds related to Ebstein Anomaly according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mcat449.7MYH7, NPPB
2phenylephrine44 28 11 2412.6MYH7, NPPB
3ryanodine44 28 5911.2MYH7, GATA4, NPPB
4zinc44 249.5NPPB, GATA4, NKX2-5, LIMS1
5serine448.0MYH7, LIMS1, NKX2-5, GATA4, NPPB

GO Terms for genes affiliated with Ebstein Anomaly

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16Gene Ontology
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Cellular components related to Ebstein Anomaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1stress fiberGO:0017259.5MYH7, NEBL

Biological processes related to Ebstein Anomaly according to GeneCards/GeneDecks:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1adult heart developmentGO:00751210.0MYH7, NKX2-5
2outflow tract septum morphogenesisGO:0031489.9NKX2-5, TBX1
3positive regulation of cardioblast differentiationGO:0518919.9NKX2-5, GATA4
4atrial septum morphogenesisGO:0604139.9NKX2-5, GATA4
5pharyngeal system developmentGO:0600379.9TBX1, NKX2-5
6thyroid gland developmentGO:0308789.8NKX2-5, TBX1
7heart morphogenesisGO:0030079.8TBX1, NKX2-5
8canonical Wnt receptor signaling pathwayGO:0600709.7NKX2-5, GATA4
9heart loopingGO:0019479.6NKX2-5, GATA4
10BMP signaling pathwayGO:0305099.4NKX2-5, GATA4

Molecular functions related to Ebstein Anomaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037059.7NKX2-5, GATA4
2structural constituent of muscleGO:0083079.2MYH7, NEBL

Products for genes affiliated with Ebstein Anomaly

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ebstein Anomaly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet