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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Sources:
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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Sources:
50PubMed
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Articles related to Ebstein Anomaly:

(show top 50)    (show all 102)
idTitleAuthorsYear
1
Right heart characteristics and exercise parameters in adults with Ebstein anomaly: new perspectives from cardiac magnetic resonance imaging studies. (21872945)
2013
2
Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature. (23707655)
2013
3
Cone Reconstruction in Children with Ebstein Anomaly: The Mayo Clinic Experience. (24373319)
2013
4
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7. (23794396)
2013
5
When lithium hurts: a look at Ebstein anomaly. (23269033)
2013
6
Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report. (24357267)
2013
7
Common CTA features of Ebstein anomaly in a middle-aged woman with a heart murmur and dyspnea on exertion. (23000178)
2012
8
Ebstein anomaly in an adult presenting with wide QRS tachycardia: diagnostic and therapeutic dilemmas. (21570234)
2012
9
Outcome of cardiac surgery in patients 50 years of age or older with Ebstein anomaly: survival and functional improvement. (22651867)
2012
10
Case images: A very rare case: Ebstein anomaly, biventricular noncompaction and pre-excitation in the same patient. (23363907)
2012
11
Right ventricular exclusion for a neonatal patient with Ebstein anomaly: a free wall resection of the right ventricle. (21719034)
2011
12
Mutations in the sarcomere gene MYH7 in Ebstein anomaly. (21127202)
2011
13
Improvements in exercise performance after surgery for Ebstein anomaly. (21093874)
2011
14
Cone reconstruction of the tricuspid valve in Ebstein anomaly with or without one and a half ventricle repair. (21320712)
2011
15
Ebstein anomaly: Genetic heterogeneity and association with microdeletions 1p36 and 8p23.1. (21815254)
2011
16
E-page original images. A case of Ebstein anomaly and biventricular noncompaction. (21062694)
2010
17
An infant with Williams-Beuren syndrome and Ebstein anomaly. (20465859)
2010
18
Management and long-term outcome of neonatal Ebstein anomaly. (19775704)
2010
19
Rapid two-stage Starnes procedure for a symptomatic neonate with Ebstein anomaly. (21095378)
2010
20
Ebstein anomaly of the tricuspid valve, atrial septal defect, and severe right ventricular dysfunction in an adult: transesophageal echocardiographic images. (20042447)
2010
21
Ebstein anomaly associated with double-orifice tricuspid valve. (19909982)
2010
22
Mid-term outcomes in adults with ebstein anomaly and cavopulmonary shunts. (19559211)
2009
23
Images in cardiovascular medicine. Uncommon variant of Ebstein anomaly with tricuspid stenosis. (19581515)
2009
24
Ebstein anomaly by cardiac magnetic resonance imaging. (19389570)
2009
25
Preload index of the inferior vena cava as a possible predictive marker of hydropic changes in fetuses with Ebstein anomaly. (19778884)
2009
26
Right ventricular exclusion procedure with total cavopulmonary connection: an alternative operative approach in adults with severe Ebstein anomaly. (18455608)
2008
27
Functional status after operation for Ebstein anomaly: the Mayo Clinic experience. (18672167)
2008
28
Noninvasive electrocardiographic imaging (ECGI) of epicardial activation before and after catheter ablation of the accessory pathway in a patient with Ebstein anomaly. (18482872)
2008
29
The outcomes of operations for 539 patients with Ebstein anomaly. (18455593)
2008
30
Images in cardiovascular medicine. Ebstein anomaly associated with left ventricular noncompaction. (18852371)
2008
31
Fate of the right ventricle after fenestrated right ventricular exclusion for severe neonatal Ebstein anomaly. (18023652)
2007
32
New insight into the tricuspid valve in Ebstein anomaly using three-dimensional echocardiography. (17041114)
2006
33
Results of surgery for Ebstein anomaly: a multicenter study from the European Congenital Heart Surgeons Association. (16798302)
2006
34
Ebstein anomaly and duplication of the distal arm of chromosome 15: report of two patients. (16278886)
2005
35
Sonographic features of Ebstein anomaly associated with hydrops fetalis: a report of two cases. (15756659)
2005
36
Ebstein anomaly in a meerkat (Suricata suricatta). (15732599)
2004
37
Atrioventricular nodal re-entrant tachycardia in a patient with Ebstein anomaly. (15310727)
2004
38
Symptomatic neonates with Ebstein anomaly. (15052228)
2004
39
Prenatal diagnosis of Ebstein anomaly: a potential pitfall. (15098875)
2004
40
Ebstein anomaly with congestive cardiac failure. (15645959)
2004
41
Early and medium-term results for repair of Ebstein anomaly. (15052195)
2004
42
Anatomic correction of Ebstein anomaly. (11726903)
2001
43
The adult patient with Ebstein anomaly. Outcome in 72 unoperated patients. (10670407)
2000
44
Fetal Ebstein anomaly--a rare cause of non-immune hydrops. (10830066)
1996
45
Re: Rheumatic mitral stenosis with Ebstein anomaly of tricuspid value. (8792193)
1996
46
MR imaging of Ebstein anomaly: results in four cases. (3257327)
1988
47
Duplication of the tricuspid valve with Ebstein anomaly. (6716633)
1984
48
Cardiomegaly and cyanosis on exercise--the diagnosis of Ebstein anomaly. (6445655)
1980
49
Surgical treatment of tachyarrhythmias in patients with both an Ebstein anomaly and a Kent bundle. (661355)
1978
50
Surgical treatment of Ebstein anomaly. (5401821)
1969

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