MCID: EBS001
MIFTS: 46

Ebstein Anomaly malady

Rare diseases, Cardiovascular diseases, Fetal diseases categories

Aliases & Classifications for Ebstein Anomaly

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 11DISEASES, 47Orphanet, 27ICD9CM, 60UMLS, 55SNOMED-CT, 33MeSH, 38NCIt, 26ICD10 via Orphanet, 61UMLS via Orphanet, 25ICD10
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Ebstein Anomaly, Aliases & Descriptions:

Name: Ebstein Anomaly 9 41 11
Ebstein Anomaly of the Tricuspid Valve 41 47
Ebstein Malformation 41 47
Ebstein's Anomaly 9 41
 
Ebstein's Anomaly of Common Atrioventricular Valve 9
Ebstein's Anomaly of Right Atrioventricular Valve 9
Ebstein's Anomaly of Tricuspid Valve 9
Ebstein's Malformation 41


Classifications:

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


Characteristics (Orphanet epidemiological data):

47
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


External Ids:

Disease Ontology9 DOID:14289
ICD9CM27 746.2
MeSH33 D004437
NCIt38 C84681
Orphanet47 1880
ICD10 via Orphanet26 Q22.5
UMLS via Orphanet61 C0013481
ICD1025 Q22.5

Summaries for Ebstein Anomaly

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NIH Rare Diseases:41 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

MalaCards based summary: Ebstein Anomaly, also known as ebstein anomaly of the tricuspid valve, is related to tetralogy of fallot and ventricular septal defect, and has symptoms including premature birth, defect in the atrial septum and abnormality of the tricuspid valve. 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.

Related Diseases for Ebstein Anomaly

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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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Symptoms:

 47 (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

HPO human phenotypes related to Ebstein Anomaly:

(show all 11)
id Description Frequency HPO Source Accession
1 premature birth hallmark (90%) HP:0001622
2 defect in the atrial septum hallmark (90%) HP:0001631
3 abnormality of the tricuspid valve hallmark (90%) HP:0001702
4 respiratory insufficiency hallmark (90%) HP:0002093
5 patent ductus arteriosus typical (50%) HP:0001643
6 chest pain typical (50%) HP:0100749
7 congestive heart failure occasional (7.5%) HP:0001635
8 sudden cardiac death occasional (7.5%) HP:0001645
9 cerebral ischemia occasional (7.5%) HP:0002637
10 abnormality of the endocardium occasional (7.5%) HP:0004306
11 arterial thrombosis occasional (7.5%) HP:0004420

Drugs & Therapeutics for Ebstein Anomaly

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Drug clinical trials:

Search ClinicalTrials for Ebstein Anomaly

Search NIH Clinical Center for Ebstein Anomaly

Genetic Tests for Ebstein Anomaly

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Anatomical Context for Ebstein Anomaly

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MalaCards organs/tissues related to Ebstein Anomaly:

31
Heart, Lung, Liver

Animal Models for Ebstein Anomaly or affiliated genes

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MGI Mouse Phenotypes related to Ebstein Anomaly:

35
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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Articles related to Ebstein Anomaly:

(show top 50)    (show all 119)
idTitleAuthorsYear
1
Case 1/2015. A 76-year-old male patient with Ebstein anomaly in natural course. (25714409)
2015
2
Ebstein anomaly and Trisomy 21: A rare association. (24701093)
2014
3
Nonimmune hydrops fetalis with ebstein anomaly. (25148508)
2014
4
Detection of right ventricle thrombosis in patient with Ebstein anomaly of tricuspid valve after Fontan procedure by CT. (24939075)
2014
5
Ebstein anomaly: a review. (25161135)
2014
6
Incidental gossypiboma discovered during tricuspid valve re-repair 11 years after ebstein anomaly repair. (23958535)
2013
7
QRS duration and QRS fractionation on surface electrocardiogram are markers of right ventricular dysfunction and atrialization in patients with Ebstein anomaly. (23117161)
2013
8
Right heart characteristics and exercise parameters in adults with Ebstein anomaly: new perspectives from cardiac magnetic resonance imaging studies. (21872945)
2013
9
Fragmented QRS Complex in Adult Patients With Ebstein Anomaly and Its Association With Arrhythmic Risk and the Severity of the Anomaly. (24235269)
2013
10
Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature. (23707655)
2013
11
Cone Reconstruction in Children with Ebstein Anomaly: The Mayo Clinic Experience. (24373319)
2013
12
Case 6/2013: 56 years old woman with Ebstein anomaly in heart failure. (24522278)
2013
13
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7. (23794396)
2013
14
Surgical management of a neonate with congenitally corrected transposition of the great vessels, hypoplastic right aortic arch, and Ebstein anomaly. (23947600)
2013
15
Critical Ebstein anomaly in a fetus successfully managed by elective preterm delivery and surgical intervention without delay after birth. (21947353)
2012
16
Individualized quantified tricuspid valve annuloplasty for treating Ebstein anomaly. (22953685)
2012
17
Common CTA features of Ebstein anomaly in a middle-aged woman with a heart murmur and dyspnea on exertion. (23000178)
2012
18
Diagnosis and management of ebstein anomaly of the tricuspid valve. (23001420)
2012
19
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
20
Right ventricular exclusion for a neonatal patient with Ebstein anomaly: a free wall resection of the right ventricle. (21719034)
2011
21
Acute severe hypoxaemia after mechanical ventilation in a patient with an Ebstein anomaly requiring extracorporeal membrane oxygenation. (22088878)
2011
22
Mutations in the sarcomere gene MYH7 in Ebstein anomaly. (21127202)
2011
23
Improvements in exercise performance after surgery for Ebstein anomaly. (21093874)
2011
24
E-page original images. A case of Ebstein anomaly and biventricular noncompaction. (21062694)
2010
25
An infant with Williams-Beuren syndrome and Ebstein anomaly. (20465859)
2010
26
Management and long-term outcome of neonatal Ebstein anomaly. (19775704)
2010
27
Rapid two-stage Starnes procedure for a symptomatic neonate with Ebstein anomaly. (21095378)
2010
28
Right ventricular exclusion procedure with total cavopulmonary connection: an alternative operative approach in adults with severe Ebstein anomaly. (18455608)
2008
29
Current surgical therapy for Ebstein anomaly in neonates. (17140943)
2006
30
New insight into the tricuspid valve in Ebstein anomaly using three-dimensional echocardiography. (17041114)
2006
31
Ebstein anomaly and duplication of the distal arm of chromosome 15: report of two patients. (16278886)
2005
32
Sonographic features of Ebstein anomaly associated with hydrops fetalis: a report of two cases. (15756659)
2005
33
Pseudo-Meigs' syndrome caused by retroperitoneal tumor in a patient with Ebstein anomaly. (16136373)
2005
34
Left heart lesions in patients with Ebstein anomaly. (15757018)
2005
35
Ebstein anomaly associated with unusual conduction delay and sick sinus syndrome. (15226641)
2004
36
Ebstein anomaly in a meerkat (Suricata suricatta). (15732599)
2004
37
Repair of the Ebstein anomaly. (15514626)
2004
38
Supraventricular tachyarrhythmias in Ebstein anomaly: management and outcome. (15573066)
2004
39
Atrioventricular nodal re-entrant tachycardia in a patient with Ebstein anomaly. (15310727)
2004
40
Case 71: Ebstein anomaly. (15163815)
2004
41
Symptomatic neonates with Ebstein anomaly. (15052228)
2004
42
Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9. (12746392)
2003
43
Cardiac blood-filled cyst at the atrialized portion of the right ventricle in a patient with ebstein anomaly: a case report. (10917970)
2000
44
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
45
Nongeometric quantitative assessment of right and left ventricular function: myocardial performance index in normal children and patients with Ebstein anomaly. (9758376)
1998
46
Fetal Ebstein anomaly--a rare cause of non-immune hydrops. (10830066)
1996
47
Re: Rheumatic mitral stenosis with Ebstein anomaly of tricuspid value. (8792193)
1996
48
MR imaging of Ebstein anomaly: results in four cases. (3257327)
1988
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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Search GEO for disease gene expression data for Ebstein Anomaly.

Pathways for genes affiliated with Ebstein Anomaly

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Pathways related to Ebstein Anomaly according to GeneCards Suite gene sharing:

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:
43Novoseek, 28IUPHAR, 59Tocris Bioscience, 24HMDB
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Compounds related to Ebstein Anomaly according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1ryanodine43 28 5911.5GATA4, MYH7
2zinc43 2410.1GATA4, NKX2-5, LIMS1
3serine438.4GATA4, NKX2-5, LIMS1, MYH7

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
1focal adhesionGO:00059259.6LIMS1, MYH7
2stress fiberGO:00017259.4NEBL, MYH7
3Z discGO:00300189.2NEBL, MYH7

Biological processes related to Ebstein Anomaly according to GeneCards Suite gene sharing:

(show all 12)
idNameGO IDScoreTop Affiliating Genes
1adult heart developmentGO:000751210.0MYH7, NKX2-5
2outflow tract septum morphogenesisGO:00031489.9TBX1, NKX2-5
3pharyngeal system developmentGO:00600379.9TBX1, NKX2-5
4thyroid gland developmentGO:00308789.8TBX1, NKX2-5
5positive regulation of cardioblast differentiationGO:00518919.8GATA4, NKX2-5
6atrial septum morphogenesisGO:00604139.8GATA4, NKX2-5
7heart morphogenesisGO:00030079.8NKX2-5, TBX1
8heart loopingGO:00019479.6GATA4, NKX2-5
9BMP signaling pathwayGO:00305099.6GATA4, NKX2-5
10canonical Wnt signaling pathwayGO:00600709.3GATA4, NKX2-5
11positive regulation of transcription from RNA polymerase II promoterGO:00459449.2GATA4, TBX1, NKX2-5
12positive regulation of transcription, DNA-templatedGO:00458939.1NKX2-5, TBX1, GATA4

Molecular functions related to Ebstein Anomaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:00037059.3GATA4, NKX2-5
2sequence-specific DNA bindingGO:00435659.1NKX2-5, TBX1, GATA4
3protein bindingGO:00055157.6MAP6, NKX2-5, LIMS1, MYH7, GATA4, NEBL

Products for genes affiliated with Ebstein Anomaly

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Ebstein Anomaly

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet