MCID: EBS001
MIFTS: 42

Ebstein Anomaly malady

Rare diseases, Cardiovascular diseases, Fetal diseases categories

Aliases & Classifications for Ebstein Anomaly

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Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 36MeSH, 51Orphanet, 65UMLS, 29ICD9CM, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 66UMLS via Orphanet, 27ICD10
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Aliases & Descriptions for Ebstein Anomaly:

Name: Ebstein Anomaly 10 45 12 36
Ebstein's Anomaly 10 45
Ebstein's Anomaly of Common Atrioventricular Valve 10
Ebstein's Anomaly of Right Atrioventricular Valve 10
 
Ebstein Anomaly of the Tricuspid Valve 51
Ebstein's Anomaly of Tricuspid Valve 10
Ebstein's Malformation 45
Ebstein Malformation 51


Classifications:



Characteristics (Orphanet epidemiological data):

51
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 Ontology10 DOID:14289
MeSH36 D004437
ICD9CM29 746.2
NCIt42 C84681
Orphanet51 1880
ICD10 via Orphanet28 Q22.5
UMLS via Orphanet66 C0013481
ICD1027 Q22.5

Summaries for Ebstein Anomaly

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NIH Rare Diseases:45 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's anomaly, is related to tetralogy of fallot and left ventricular noncompaction, 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 MYH7 (Myosin, Heavy Chain 7, Cardiac Muscle, Beta), and among its related pathways are Cardiac Progenitor Differentiation and Heart Development. Affiliated tissues include heart, lung and liver.

Disease Ontology:10 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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Diseases related to Ebstein Anomaly via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 68)
idRelated DiseaseScoreTop Affiliating Genes
1tetralogy of fallot29.5CRELD1, GATA4, NKX2-5, NKX2-6, NPPB
2left ventricular noncompaction10.3
3endomyocardial fibrosis10.2
4congenital heart disease10.2
5ventricular septal defect10.2
6hydrops fetalis10.2
7focal palmoplantar keratoderma10.2MYH7, NPPB
8gallbladder melanoma10.1MYH7, NPPB
9thiamine-responsive megaloblastic anemia syndrome10.1
10coronary heart disease 210.1
11anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.1
12trichohepatoenteric syndrome 210.1
13williams-beuren syndrome10.1
14left ventricular noncompaction 210.1
15pick disease10.1
16coronary heart disease 310.1
17heart valve disease10.1
18hypoplastic left heart syndrome10.1
19atrioventricular septal defect10.1
20megaloblastic anemia10.1
21meige syndrome10.1
22sick sinus syndrome10.1
23hypertrophic cardiomyopathy10.1
24tricuspid valve disease10.1
25coronary arteries congenital malformation10.1
26transposition of the great arteries10.1
27cardiomyopathy10.1
2818q deletion syndrome10.1
29pseudo-meigs syndrome10.1
30right aortic arch10.1
31congenitally corrected transposition of the great arteries10.1
32blepharospasm10.1CRELD1, NPPB
33aorto-right ventricular tunnel10.1CRELD1, GATA4
34inferior vena cava interruption10.1CRELD1, GATA4
35holt-oram syndrome10.1MYH7, NKX2-5
36univentricular heart with single atrio-ventricular valve10.1CRELD1, GATA4
37conversion disorder10.1CRELD1, NPPB
38partial deletion of y10.1CRELD1, GATA4
39diabetic autonomic neuropathy10.0CRELD1, NPPB
40wolff-parkinson-white syndrome10.0MYH7, NKX2-5
41sclerosing cholangitis10.0NKX2-6, NPPB
42squamous cell papilloma10.0NKX2-6, NPPB
43retroperitoneal hemangiopericytoma9.9NKX2-6, NPPB
44atrophic glossitis9.9GATA4, NKX2-5, NPPB
45hemolytic disease of the newborn with kell alloimmunization9.9NKX2-5, NKX2-6
46dentinogenesis imperfecta, shields type ii9.9CRELD1, NKX2-6
47duodenogastric reflux9.9CRELD1, NKX2-6
48aortic valve disease 19.9MYH7, NKX2-6, NPPB
49ceroid lipofuscinosis, neuronal, 69.8MYH7, NKX2-6, NPPB
50biliary atresia9.8GATA4, NKX2-5

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:

 51 (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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic MethodsCompletedNCT01907971
2Genes Causing Ebstein's AnomalyCompletedNCT00497705
3Behaviour of Tricuspid Valve Regurgitation in Volume and/or Pressure Loaded Right HeartNot yet recruitingNCT01444222

Search NIH Clinical Center for Ebstein Anomaly


Cochrane evidence based reviews: 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:

33
Heart, Lung, Liver

Animal Models for Ebstein Anomaly or affiliated genes

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Publications for Ebstein Anomaly

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Articles related to Ebstein Anomaly:

(show top 50)    (show all 124)
idTitleAuthorsYear
1
Caution: There is no "all or none" with Ebstein anomaly. (26546202)
2015
2
Ebstein anomaly review: what's now, what's next? (26357983)
2015
3
Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era: A Multicenter Study. (26059011)
2015
4
Case 1/2015. A 76-year-old male patient with Ebstein anomaly in natural course. (25714409)
2015
5
Demonstration of circular shunt in fetal Ebstein anomaly. (26556976)
2015
6
Ebstein anomaly and Trisomy 21: A rare association. (24701093)
2014
7
Nonimmune hydrops fetalis with ebstein anomaly. (25148508)
2014
8
Detection of right ventricle thrombosis in patient with Ebstein anomaly of tricuspid valve after Fontan procedure by CT. (24939075)
2014
9
Ebstein anomaly: a review. (25161135)
2014
10
Incidental gossypiboma discovered during tricuspid valve re-repair 11 years after ebstein anomaly repair. (23958535)
2013
11
QRS duration and QRS fractionation on surface electrocardiogram are markers of right ventricular dysfunction and atrialization in patients with Ebstein anomaly. (23117161)
2013
12
Right heart characteristics and exercise parameters in adults with Ebstein anomaly: new perspectives from cardiac magnetic resonance imaging studies. (21872945)
2013
13
Fragmented QRS Complex in Adult Patients With Ebstein Anomaly and Its Association With Arrhythmic Risk and the Severity of the Anomaly. (24235269)
2013
14
Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature. (23707655)
2013
15
Cone Reconstruction in Children with Ebstein Anomaly: The Mayo Clinic Experience. (24373319)
2013
16
Case 6/2013: 56 years old woman with Ebstein anomaly in heart failure. (24522278)
2013
17
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7. (23794396)
2013
18
Surgical management of a neonate with congenitally corrected transposition of the great vessels, hypoplastic right aortic arch, and Ebstein anomaly. (23947600)
2013
19
Critical Ebstein anomaly in a fetus successfully managed by elective preterm delivery and surgical intervention without delay after birth. (21947353)
2012
20
Individualized quantified tricuspid valve annuloplasty for treating Ebstein anomaly. (22953685)
2012
21
Common CTA features of Ebstein anomaly in a middle-aged woman with a heart murmur and dyspnea on exertion. (23000178)
2012
22
Diagnosis and management of ebstein anomaly of the tricuspid valve. (23001420)
2012
23
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
24
Right ventricular exclusion for a neonatal patient with Ebstein anomaly: a free wall resection of the right ventricle. (21719034)
2011
25
Acute severe hypoxaemia after mechanical ventilation in a patient with an Ebstein anomaly requiring extracorporeal membrane oxygenation. (22088878)
2011
26
Mutations in the sarcomere gene MYH7 in Ebstein anomaly. (21127202)
2011
27
Improvements in exercise performance after surgery for Ebstein anomaly. (21093874)
2011
28
E-page original images. A case of Ebstein anomaly and biventricular noncompaction. (21062694)
2010
29
An infant with Williams-Beuren syndrome and Ebstein anomaly. (20465859)
2010
30
Management and long-term outcome of neonatal Ebstein anomaly. (19775704)
2010
31
Rapid two-stage Starnes procedure for a symptomatic neonate with Ebstein anomaly. (21095378)
2010
32
Current surgical therapy for Ebstein anomaly in neonates. (17140943)
2006
33
Ebstein anomaly and duplication of the distal arm of chromosome 15: report of two patients. (16278886)
2005
34
Sonographic features of Ebstein anomaly associated with hydrops fetalis: a report of two cases. (15756659)
2005
35
Pseudo-Meigs' syndrome caused by retroperitoneal tumor in a patient with Ebstein anomaly. (16136373)
2005
36
Left heart lesions in patients with Ebstein anomaly. (15757018)
2005
37
Ebstein anomaly associated with unusual conduction delay and sick sinus syndrome. (15226641)
2004
38
Ebstein anomaly in a meerkat (Suricata suricatta). (15732599)
2004
39
Repair of the Ebstein anomaly. (15514626)
2004
40
Supraventricular tachyarrhythmias in Ebstein anomaly: management and outcome. (15573066)
2004
41
Atrioventricular nodal re-entrant tachycardia in a patient with Ebstein anomaly. (15310727)
2004
42
Case 71: Ebstein anomaly. (15163815)
2004
43
Symptomatic neonates with Ebstein anomaly. (15052228)
2004
44
Canine tricuspid valve malformation, a model of human Ebstein anomaly, maps to dog chromosome 9. (12746392)
2003
45
Cardiac blood-filled cyst at the atrialized portion of the right ventricle in a patient with ebstein anomaly: a case report. (10917970)
2000
46
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
47
Nongeometric quantitative assessment of right and left ventricular function: myocardial performance index in normal children and patients with Ebstein anomaly. (9758376)
1998
48
Fetal Ebstein anomaly--a rare cause of non-immune hydrops. (10830066)
1996
49
MR imaging of Ebstein anomaly: results in four cases. (3257327)
1988
50
Duplication of the tricuspid valve with Ebstein anomaly. (6716633)
1984

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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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
1RNA polymerase II transcription factor complexGO:00905759.5GATA4, NKX2-5

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

(show all 19)
idNameGO IDScoreTop Affiliating Genes
1cardiac ventricle morphogenesisGO:000320810.1GATA4, NKX2-5
2regulation of cardiac muscle cell proliferationGO:006004310.1GATA4, NKX2-5
3cardiac muscle tissue developmentGO:004873810.0GATA4, NKX2-5
4positive regulation of cardioblast differentiationGO:005189110.0GATA4, NKX2-5
5adult heart developmentGO:00075129.9MYH7, NKX2-5
6cardiac muscle cell differentiationGO:00550079.9GATA4, NKX2-5
7atrial cardiac muscle cell developmentGO:00550149.9NKX2-5, NKX2-6
8heart loopingGO:00019479.8GATA4, NKX2-5
9canonical Wnt signaling pathwayGO:00600709.8GATA4, NKX2-5
10pharyngeal system developmentGO:00600379.7NKX2-5, NKX2-6
11cardiac muscle contractionGO:00600489.7MYH7, NKX2-5
12ventricular cardiac muscle cell developmentGO:00550159.6NKX2-5, NKX2-6
13atrial septum morphogenesisGO:00604139.6GATA4, NKX2-5
14endocardial cushion developmentGO:00031979.6CRELD1, GATA4
15cardiac septum developmentGO:00032799.6CRELD1, GATA4
16BMP signaling pathwayGO:00305099.5GATA4, NKX2-5
17heart morphogenesisGO:00030079.4GATA4, NKX2-5
18embryonic heart tube developmentGO:00350509.2GATA4, NKX2-5, NKX2-6
19heart developmentGO:00075078.4GATA4, NKX2-5, NKX2-6

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

idNameGO IDScoreTop Affiliating Genes
1transcription factor activity, RNA polymerase II distal enhancer sequence-specific bindingGO:00037059.5GATA4, NKX2-5

Sources for Ebstein Anomaly

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet