MCID: EBS001
MIFTS: 54

Ebstein Anomaly malady

Rare diseases, Cardiovascular diseases, Fetal diseases categories

Summaries for Ebstein Anomaly

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9Disease Ontology, 44NIH Rare Diseases, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 Ā 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

MalaCards: Ebstein Anomaly, also known as ebstein malformation, is related to ventricular septal defect and tetralogy of fallot, and has symptoms including endocardium anomalies/fibroelastosis/endocarditis, cardiac septal defect and tricuspid valve atresia/stenosis/narrowing. 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 ryanodine and zinc have been mentioned in the context of this disorder. Affiliated tissues include heart, lung and liver, and related mouse phenotypes are respiratory system and muscle.

Disease Ontology:9 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.

Description from OMIM:48 224700

Aliases & Classifications for Ebstein Anomaly

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 50Orphanet, 48OMIM, 59SNOMED-CT, 41NCIt, 28ICD9CM, 63UMLS, 36MeSH, 60SNOMED-CT via Orphanet, 27ICD10 via Orphanet, 64UMLS via Orphanet, 26ICD10
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
ebstein malformation:
Inheritance: Autosomal dominant,Sporadic; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

ebstein anomaly 9 44 11
ebstein malformation 50 48
ebstein's anomaly 9 44
ebstein's anomaly of common atrioventricular valve 9
ebstein's anomaly of right atrioventricular valve 9
ebstein anomaly of the tricuspid valve 50
ebstein's anomaly of tricuspid valve 9
ebstein's malformation 44


External Ids:

Disease Ontology9 DOID:14289
OMIM48 224700
NCIt41 C84681
ICD9CM28 746.2
MeSH36 D004437
SNOMED-CT via Orphanet60 253443005, 253468007, 204357006
ICD10 via Orphanet27 Q22.5
UMLS via Orphanet64 C0013481
ICD1026 Q22.5

Related Diseases for Ebstein Anomaly

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Sources:
18GeneCards, 19GeneDecks
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Graphical network of the top 20 diseases related to Ebstein Anomaly:



Diseases related to ebstein anomaly

Symptoms for Ebstein Anomaly

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

224700

Clinical features from OMIM:

224700

Symptoms:

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

Drugs & Therapeutics for Ebstein Anomaly

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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:
34MalaCards
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MalaCards organs/tissues related to Ebstein Anomaly:

34
Heart, Lung, Liver

Animal Models for Ebstein Anomaly or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Ebstein Anomaly:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053888.7TBX1, LIMS1, GATA4, NKX2-5
2MP:00053698.7GATA4, TBX1, NKX2-5, LIMS1
3MP:00053808.5GATA4, TBX1, NKX2-5, LIMS1
4MP:00053858.3LIMS1, NKX2-5, TBX1, GATA4
5MP:00107688.2TBX1, NKX2-5, MAP6, LIMS1, GATA4
6MP:00028737.9RBM41, LIMS1, NKX2-5, TBX1, GATA4

Publications for Ebstein Anomaly

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Sources:
53PubMed
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Articles related to Ebstein Anomaly:

(show top 50)    (show all 101)
idTitleAuthorsYear
1
Incidental gossypiboma discovered during tricuspid valve re-repair 11 years after ebstein anomaly repair. (23958535)
2013
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
Right heart characteristics and exercise parameters in adults with Ebstein anomaly: new perspectives from cardiac magnetic resonance imaging studies. (21872945)
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
Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature. (23707655)
2013
6
Cone Reconstruction in Children with Ebstein Anomaly: The Mayo Clinic Experience. (24373319)
2013
7
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7. (23794396)
2013
8
Surgical management of a neonate with congenitally corrected transposition of the great vessels, hypoplastic right aortic arch, and Ebstein anomaly. (23947600)
2013
9
Critical Ebstein anomaly in a fetus successfully managed by elective preterm delivery and surgical intervention without delay after birth. (21947353)
2012
10
Individualized quantified tricuspid valve annuloplasty for treating Ebstein anomaly. (22953685)
2012
11
Common CTA features of Ebstein anomaly in a middle-aged woman with a heart murmur and dyspnea on exertion. (23000178)
2012
12
Diagnosis and management of ebstein anomaly of the tricuspid valve. (23001420)
2012
13
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
14
Natural history of exercise function in patients with Ebstein anomaly: A serial study. (22424021)
2012
15
Right ventricular exclusion for a neonatal patient with Ebstein anomaly: a free wall resection of the right ventricle. (21719034)
2011
16
Acute severe hypoxaemia after mechanical ventilation in a patient with an Ebstein anomaly requiring extracorporeal membrane oxygenation. (22088878)
2011
17
Mutations in the sarcomere gene MYH7 in Ebstein anomaly. (21127202)
2011
18
Improvements in exercise performance after surgery for Ebstein anomaly. (21093874)
2011
19
Cardiac magnetic resonance imaging and the assessment of ebstein anomaly in adults. (21247528)
2011
20
Epidemiology of Ebstein anomaly: prevalence and patterns in Texas, 1999-2005. (21465650)
2011
21
E-page original images. A case of Ebstein anomaly and biventricular noncompaction. (21062694)
2010
22
An infant with Williams-Beuren syndrome and Ebstein anomaly. (20465859)
2010
23
Management and long-term outcome of neonatal Ebstein anomaly. (19775704)
2010
24
Rapid two-stage Starnes procedure for a symptomatic neonate with Ebstein anomaly. (21095378)
2010
25
Right ventricular exclusion procedure with total cavopulmonary connection: an alternative operative approach in adults with severe Ebstein anomaly. (18455608)
2008
26
Functional status after operation for Ebstein anomaly: the Mayo Clinic experience. (18672167)
2008
27
Multislice computed tomography angiography of Ebstein anomaly and anomalous coronary artery. (19083904)
2007
28
Current surgical therapy for Ebstein anomaly in neonates. (17140943)
2006
29
New insight into the tricuspid valve in Ebstein anomaly using three-dimensional echocardiography. (17041114)
2006
30
Ebstein anomaly and duplication of the distal arm of chromosome 15: report of two patients. (16278886)
2005
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
Ebstein anomaly in a meerkat (Suricata suricatta). (15732599)
2004
36
Repair of the Ebstein anomaly. (15514626)
2004
37
Supraventricular tachyarrhythmias in Ebstein anomaly: management and outcome. (15573066)
2004
38
Atrioventricular nodal re-entrant tachycardia in a patient with Ebstein anomaly. (15310727)
2004
39
Case 71: Ebstein anomaly. (15163815)
2004
40
Symptomatic neonates with Ebstein anomaly. (15052228)
2004
41
Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9. (12746392)
2003
42
Cardiac blood-filled cyst at the atrialized portion of the right ventricle in a patient with ebstein anomaly: a case report. (10917970)
2000
43
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
44
Nongeometric quantitative assessment of right and left ventricular function: myocardial performance index in normal children and patients with Ebstein anomaly. (9758376)
1998
45
Fetal Ebstein anomaly--a rare cause of non-immune hydrops. (10830066)
1996
46
Re: Rheumatic mitral stenosis with Ebstein anomaly of tricuspid value. (8792193)
1996
47
MR imaging of Ebstein anomaly: results in four cases. (3257327)
1988
48
Cine-computed tomography of Ebstein anomaly. (3734206)
1986
49
Duplication of the tricuspid valve with Ebstein anomaly. (6716633)
1984
50
Surgical treatment of Ebstein anomaly. (5401821)
1969

Variations for Ebstein Anomaly

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Expression for genes affiliated with Ebstein Anomaly

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2BioGPS, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 54QIAGEN
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Pathways related to Ebstein Anomaly according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.6GATA4, NKX2-5
29.6NKX2-5, GATA4
39.2GATA4, NKX2-5, MYH7
4
Show member pathways
9.2GATA4, NKX2-5, MYH7
59.2GATA4, TBX1, NKX2-5

Compounds for genes affiliated with Ebstein Anomaly

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Sources:
46Novoseek, 30IUPHAR, 62Tocris Bioscience, 25HMDB
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Compounds related to Ebstein Anomaly according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1ryanodine46 30 6211.5GATA4, MYH7
2zinc46 2510.1GATA4, NKX2-5, LIMS1
3serine468.4GATA4, NKX2-5, LIMS1, MYH7

GO Terms for genes affiliated with Ebstein Anomaly

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17Gene Ontology
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Cellular components related to Ebstein Anomaly according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1focal adhesionGO:0059259.6LIMS1, MYH7
2stress fiberGO:0017259.4NEBL, MYH7
3Z discGO:0300189.2NEBL, MYH7

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

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1adult heart developmentGO:00751210.0MYH7, NKX2-5
2outflow tract septum morphogenesisGO:0031489.9TBX1, NKX2-5
3pharyngeal system developmentGO:0600379.9TBX1, NKX2-5
4thyroid gland developmentGO:0308789.8TBX1, NKX2-5
5positive regulation of cardioblast differentiationGO:0518919.8GATA4, NKX2-5
6atrial septum morphogenesisGO:0604139.8GATA4, NKX2-5
7heart morphogenesisGO:0030079.8NKX2-5, TBX1
8heart loopingGO:0019479.6GATA4, NKX2-5
9BMP signaling pathwayGO:0305099.6GATA4, NKX2-5
10canonical Wnt signaling pathwayGO:0600709.3GATA4, NKX2-5
11positive regulation of transcription from RNA polymerase II promoterGO:0459449.2GATA4, TBX1, NKX2-5
12positive regulation of transcription, DNA-templatedGO:0458939.1NKX2-5, TBX1, 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:0037059.3GATA4, NKX2-5
2sequence-specific DNA bindingGO:0435659.1GATA4, TBX1, NKX2-5
3protein bindingGO:0055157.6LIMS1, NEBL, MAP6, NKX2-5, GATA4, MYH7

Products for genes affiliated with Ebstein Anomaly

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Ebstein Anomaly

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet