MCID: EBS001
MIFTS: 47

Ebstein Anomaly malady

Cardiovascular, Fetal categories

Summaries for Ebstein Anomaly

Sources:
47OMIM, 33MalaCards
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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 respiratory distress/dyspnea/respiratory failure/lung volume reduction, tricuspid valve prolapse/incompetence/insufficiency/regurgitation/ring anomaly and tricuspid valve atresia/stenosis/narrowing. An important gene associated with Ebstein Anomaly is NKX2-5 (NK2 homeobox 5), 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 related mouse phenotypes are respiratory system and muscle.

Description from OMIM:47 224700

Aliases & Classifications for Ebstein Anomaly

Sources:
8Disease Ontology, 43NIH Rare Diseases, 10DISEASES, 49Orphanet, 47OMIM, 57SNOMED-CT, 40NCIt, 61UMLS, 35MeSH, 27ICD9CM, 26ICD10 via Orphanet, 25ICD10
See all sources

Classifications:

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


Characteristics (Orphanet epidemiological data):

49
ebstein malformation:
Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

ebstein anomaly 8 43 10
ebstein malformation 49 47
ebstein's anomaly 8 43
ebstein's anomaly of common atrioventricular valve 8
ebstein's anomaly of right atrioventricular valve 8
ebstein anomaly of the tricuspid valve 49
ebstein's anomaly of tricuspid valve 8
ebstein's malformation 43


External Ids:

Disease Ontology8 DOID:14289
OMIM47 224700
NCIt40 C84681
MeSH35 D004437
ICD9CM27 746.2
ICD10 via Orphanet26 Q22.5
ICD1025 Q22.5

Related Diseases for Ebstein Anomaly

Sources:
17GeneCards, 18GeneDecks
See all sources

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



Diseases related to ebstein anomaly

Clinical Features for Ebstein Anomaly

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

224700

Clinical synopsis from OMIM:

224700

Symptoms:

49 (show all 19)
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • 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
  • cardiac septal defect
  • patent ductus arteriosus
  • cardiac rhythm disorder/arrhythmia
  • 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

Drugs & Therapeutics for Ebstein Anomaly

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
See all sources

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

Anatomical Context for Ebstein Anomaly

Sources:
33MalaCards
See all sources

MalaCards organs/tissues related to Ebstein Anomaly:

33
Heart

Animal Models for Ebstein Anomaly or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Ebstein Anomaly:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.9LIMS1, TBX1, NKX2-5, GATA4
2MP:00053698.4LIMS1, TBX1, NKX2-5, GATA4, NPPB
3MP:00053858.1NPPB, GATA4, NKX2-5, TBX1, LIMS1
4MP:00028738.0GATA4, RBM41, NKX2-5, TBX1, LIMS1

Publications for Ebstein Anomaly

Sources:
51PubMed
See all sources

Articles related to Ebstein Anomaly:

(show top 50)    (show all 157)
idTitleAuthorsYear
1
Increased risk of possible paradoxical embolic events in adults with ebstein anomaly and severe tricuspid regurgitation. (23601093)
2014
2
QRS duration and QRS fractionation on surface electrocardiogram are markers of right ventricular dysfunction and atrialization in patients with Ebstein anomaly. (23117161)
2013
3
Fragmented QRS Complex in Adult Patients With Ebstein Anomaly and Its Association With Arrhythmic Risk and the Severity of the Anomaly. (24235269)
2013
4
Individualized quantified tricuspid valve annuloplasty for treating Ebstein anomaly. (22953685)
2012
5
Common CTA features of Ebstein anomaly in a middle-aged woman with a heart murmur and dyspnea on exertion. (23000178)
2012
6
Ebstein anomaly in an adult presenting with wide QRS tachycardia: diagnostic and therapeutic dilemmas. (21570234)
2012
7
Cor triatriatum dexter masquerading as Ebstein's anomaly. (21294930)
2011
8
Cardiac magnetic resonance imaging and the assessment of ebstein anomaly in adults. (21247528)
2011
9
Ebstein's anomaly in a child with osteogenesis imperfecta type I. (22461818)
2011
10
Complete repair of Ebstein anomaly in neonates and young infants: a 16-year follow-up. (21353250)
2011
11
Management and long-term outcome of neonatal Ebstein anomaly. (19775704)
2010
12
Ebstein anomaly of the tricuspid valve, atrial septal defect, and severe right ventricular dysfunction in an adult: transesophageal echocardiographic images. (20042447)
2010
13
Ebstein's anomaly with left ventricular noncompaction and bicuspid aortic valve. (20813287)
2010
14
Percutaneous transcatheter balloon valvuloplasty for severe tricuspid valve stenosis in Ebstein's anomaly. (19507300)
2009
15
Left ventricular noncompaction associated with Ebstein's anomaly. (19717963)
2009
16
Williams syndrome and Ebstein's anomaly: A rare association. (20808633)
2009
17
Ebstein anomaly by cardiac magnetic resonance imaging. (19389570)
2009
18
Ebstein's anomaly of the tricuspid valve with rheumatic mitral stenosis and aortic incompetence. (19455898)
2009
19
Emergency department bedside echocardiography in diagnosis of Ebstein's anomaly with Wolff-Parkinson-White syndrome and atrial fibrillation. (18821863)
2008
20
Right ventricular exclusion procedure with total cavopulmonary connection: an alternative operative approach in adults with severe Ebstein anomaly. (18455608)
2008
21
Functional status after operation for Ebstein anomaly: the Mayo Clinic experience. (18672167)
2008
22
The outcomes of operations for 539 patients with Ebstein anomaly. (18455593)
2008
23
Images in cardiovascular medicine. Ebstein anomaly associated with left ventricular noncompaction. (18852371)
2008
24
Early and midterm results in anatomic repair of Ebstein anomaly. (18023660)
2007
25
Current surgical therapy for Ebstein anomaly in neonates. (17140943)
2006
26
Adults with Ebstein's anomaly--Cardiopulmonary exercise testing and BNP levels exercise capacity and BNP in adults with Ebstein's anomaly. (16242194)
2006
27
Ebstein anomaly and duplication of the distal arm of chromosome 15: report of two patients. (16278886)
2005
28
Ebstein anomaly associated with unusual conduction delay and sick sinus syndrome. (15226641)
2004
29
Atrioventricular nodal re-entrant tachycardia in a patient with Ebstein anomaly. (15310727)
2004
30
Case 71: Ebstein anomaly. (15163815)
2004
31
Ebstein anomaly with congestive cardiac failure. (15645959)
2004
32
Anatomic correction of Ebstein anomaly. (11726903)
2001
33
Radiofrequency ablation of a posteroseptal atrioventricular accessory pathway in a left-sided tricuspid ring with Ebsteinlike anomaly in a patient with congenitally corrected transposition of the great arteries. (11138314)
2000
34
Radiofrequency ablation of a posteroseptal atrioventricular accessory pathway in a left-sided tricuspid ring with Ebsteinlike anomaly in a patient with congenitally corrected transposition of the great arteries. (10666764)
2000
35
The adult patient with Ebstein anomaly. Outcome in 72 unoperated patients. (10670407)
2000
36
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
37
Nongeometric quantitative assessment of right and left ventricular function: myocardial performance index in normal children and patients with Ebstein anomaly. (9758376)
1998
38
Fetal Ebstein anomaly--a rare cause of non-immune hydrops. (10830066)
1996
39
Re: Rheumatic mitral stenosis with Ebstein anomaly of tricuspid value. (8792193)
1996
40
Complete atrioventricular septal defect and Ebstein anomaly. (8778708)
1996
41
Rheumatic mitral stenosis with Ebstein anomaly of tricuspid valve. (7607773)
1995
42
Ebstein's anomaly and intermediate-form atrioventricular septal defect with double-orifice mitral valve. (1434737)
1992
43
Ebstein's anomaly associated with splenomegaly and reversible hypersplenism. (2029446)
1991
44
Potential role of MR imaging in the diagnostic management of Ebstein anomaly in a newborn. (2398170)
1990
45
MR imaging of Ebstein anomaly: results in four cases. (3257327)
1988
46
Cine-computed tomography of Ebstein anomaly. (3734206)
1986
47
Electrocardiographic abnormalities in Ebstein's anomaly. Deductions based on comparison with endomyocardial fibrosis. (6213301)
1982
48
Pulmonary atresia with intact ventricular septum, Ebstein's anomaly of hypoplastic tricuspid valve, and double-chamber right ventricle: two-dimensional echocardiographic-anatomic correlation. (7098532)
1982
49
Right ventricular endomyocardial fibrosis simulating Ebstein's anomaly. (7446389)
1980
50
Cor triatriatum dexter with imperforate Ebstein's anomaly. (1252290)
1976

Genetic Variations for Ebstein Anomaly

Expression for genes affiliated with Ebstein Anomaly

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
38NCBI BioSystems Database, 52QIAGEN
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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
39.4TBX1, 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

Sources:
45Novoseek, 29IUPHAR, 11DrugBank, 24HMDB, 60Tocris Bioscience
See all sources

Compounds related to Ebstein Anomaly according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1mcat459.6MYH7, NPPB
2phenylephrine45 29 11 2412.5MYH7, NPPB
3ryanodine45 29 6011.1MYH7, GATA4, NPPB
4zinc45 249.6NPPB, GATA4, NKX2-5, LIMS1
5serine457.9MYH7, LIMS1, NKX2-5, GATA4, NPPB

GO Terms for genes affiliated with Ebstein Anomaly

Sources:
16Gene Ontology
See all sources

Cellular components related to Ebstein Anomaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1stress fiberGO:0017259.4MYH7, NEBL

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1outflow tract septum morphogenesisGO:00314810.0NKX2-5, TBX1
2positive regulation of cardioblast differentiationGO:05189110.0NKX2-5, GATA4
3atrial septum morphogenesisGO:0604139.9NKX2-5, GATA4
4pharyngeal system developmentGO:0600379.9TBX1, NKX2-5
5thyroid gland developmentGO:0308789.9NKX2-5, TBX1
6adult heart developmentGO:0075129.8MYH7, NKX2-5
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:0083079.1MYH7, NEBL

Products for genes affiliated with Ebstein Anomaly

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ebstein Anomaly

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet