MCID: EBS001
MIFTS: 44

Ebstein Anomaly malady

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Ebstein Anomaly

About this section
Sources:
10Disease Ontology, 45NIH Rare Diseases, 12DISEASES, 36MeSH, 51Orphanet, 27ICD10, 29ICD9CM, 42NCIt, 59SNOMED-CT, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet
See all MalaCards sources

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

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

Classifications:



External Ids:

Disease Ontology10 DOID:14289
ICD1027 Q22.5
ICD9CM29 746.2
MeSH36 D004437
SNOMED-CT59 1796006
NCIt42 C84681
Orphanet51 1880
UMLS via Orphanet66 C0013481
ICD10 via Orphanet28 Q22.5
UMLS65 C0013481

Summaries for Ebstein Anomaly

About this section
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 endomyocardial fibrosis and atrioventricular septal defect, 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 Mesenchymal Stem Cell Differentiation Pathways and Lineage-specific Markers and Cardiac Progenitor Differentiation. 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

About this section

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

(show top 50)    (show all 61)
idRelated DiseaseScoreTop Affiliating Genes
1endomyocardial fibrosis30.5MYH7, NPPB
2atrioventricular septal defect28.8GATA4, NKX2-5, NKX2-6
3congenital heart disease28.2CRELD1, GATA4, NKX2-5, NKX2-6
4testicular trophoblastic tumor10.2CRELD1, NPPB
5aorto-right ventricular tunnel10.2CRELD1, GATA4
6inferior vena cava interruption10.2CRELD1, GATA4
7facial nerve disease10.2CRELD1, NPPB
8cardiomyopathy, hypertrophic 610.2MYH7, NKX2-5
9univentricular heart with single atrio-ventricular valve10.2CRELD1, GATA4
10diabetic autonomic neuropathy10.2CRELD1, NPPB
11partial deletion of y10.2CRELD1, GATA4
12sclerosing cholangitis10.0NKX2-6, NPPB
13mitral valve insufficiency10.0NKX2-6, NPPB
14left ventricular noncompaction9.9
15ventricular septal defect9.9
16hydrops fetalis9.9
17signet ring cell variant cervical mucinous adenocarcinoma9.9CRELD1, NPPB
18first-degree atrioventricular block9.9NKX2-5, NPPB
19gastric liposarcoma9.9NKX2-6, NPPB
20drug-induced hepatitis9.9GATA4, MYH7, NPPB
21dentinogenesis imperfecta, shields type ii9.8CRELD1, NKX2-6
22hemolytic disease of the newborn with kell alloimmunization9.8NKX2-5, NKX2-6
23thiamine-responsive megaloblastic anemia syndrome9.8
24williams-beuren syndrome9.8
25tetralogy of fallot9.8
26hypoplastic left heart syndrome9.8
27heart disease9.8
28hypertrophic cardiomyopathy9.8
29megaloblastic anemia9.8
30sick sinus syndrome9.8
31meige syndrome9.8
32cardiomyopathy9.8
33left ventricular outflow tract obstruction9.8
34pseudo-meigs syndrome9.8
35right aortic arch9.8
36congenitally corrected transposition of the great arteries9.8
37transposition of the great arteries9.8
38extrinsic cardiomyopathy9.8MYH7, NPPB
39tricuspid valve disease9.7CRELD1, NKX2-6
40horner's syndrome9.7NKX2-6, NPPB
41tricuspid valve insufficiency9.7CRELD1, NKX2-6
42adams-oliver syndrome 59.7MYH7, NKX2-6, NPPB
43stork bite9.6CRELD1, NKX2-6
44ceroid lipofuscinosis, neuronal, 69.6MYH7, NKX2-6, NPPB
45cardiomyopathy with or without skeletal myopathy9.6GATA4, MYH7, NPPB
46ichthyosis lamellar 19.6NKX2-5, NKX2-6, NPPB
47neovascular glaucoma9.5GATA4, MYH7, NKX2-5, NPPB
48hemangioma9.5CRELD1, NKX2-6, NPPB
49gerbode defect9.5GATA4, NKX2-5, NKX2-6
50transverse limb deficiency hemangioma9.5CRELD1, NKX2-5, NKX2-6

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



Diseases related to ebstein anomaly

Symptoms for Ebstein Anomaly

About this section

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

About this section

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

About this section

Anatomical Context for Ebstein Anomaly

About this section

MalaCards organs/tissues related to Ebstein Anomaly:

33
Heart, Lung, Liver, T cells, Breast, Endothelial, Colon

Animal Models for Ebstein Anomaly or affiliated genes

About this section

Publications for Ebstein Anomaly

About this section

Articles related to Ebstein Anomaly:

(show top 50)    (show all 136)
idTitleAuthorsYear
1
An Approach to Endovascular Ventricular Pacing in a Patient with Ebstein Anomaly and a Mechanical Tricuspid Valve. (26920188)
2016
2
Application of Cone Reconstruction for Neonatal Ebstein Anomaly or Tricuspid Valve Dysplasia. (26916715)
2016
3
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo I+-tropomyosin gene mutation. (27177193)
2016
4
More than valve repair: Effect of cone reconstruction on right ventricular geometry and function in patients with Ebstein anomaly. (26788689)
2016
5
Caution: There is no "all or none" with Ebstein anomaly. (26546202)
2015
6
Ebstein anomaly review: what's now, what's next? (26357983)
2015
7
Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era: A Multicenter Study. (26059011)
2015
8
Case 1/2015. A 76-year-old male patient with Ebstein anomaly in natural course. (25714409)
2015
9
Ebstein anomaly and Trisomy 21: A rare association. (24701093)
2014
10
Nonimmune hydrops fetalis with ebstein anomaly. (25148508)
2014
11
Detection of right ventricle thrombosis in patient with Ebstein anomaly of tricuspid valve after Fontan procedure by CT. (24939075)
2014
12
Ebstein anomaly: a review. (25161135)
2014
13
Incidental gossypiboma discovered during tricuspid valve re-repair 11 years after ebstein anomaly repair. (23958535)
2013
14
QRS duration and QRS fractionation on surface electrocardiogram are markers of right ventricular dysfunction and atrialization in patients with Ebstein anomaly. (23117161)
2013
15
Right heart characteristics and exercise parameters in adults with Ebstein anomaly: new perspectives from cardiac magnetic resonance imaging studies. (21872945)
2013
16
Fragmented QRS Complex in Adult Patients With Ebstein Anomaly and Its Association With Arrhythmic Risk and the Severity of the Anomaly. (24235269)
2013
17
Cardiac anomalies in individuals with the 18q deletion syndrome; report of a child with Ebstein anomaly and review of the literature. (23707655)
2013
18
Cone Reconstruction in Children with Ebstein Anomaly: The Mayo Clinic Experience. (24373319)
2013
19
Case 6/2013: 56 years old woman with Ebstein anomaly in heart failure. (24522278)
2013
20
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7. (23794396)
2013
21
Surgical management of a neonate with congenitally corrected transposition of the great vessels, hypoplastic right aortic arch, and Ebstein anomaly. (23947600)
2013
22
Critical Ebstein anomaly in a fetus successfully managed by elective preterm delivery and surgical intervention without delay after birth. (21947353)
2012
23
Individualized quantified tricuspid valve annuloplasty for treating Ebstein anomaly. (22953685)
2012
24
Common CTA features of Ebstein anomaly in a middle-aged woman with a heart murmur and dyspnea on exertion. (23000178)
2012
25
Diagnosis and management of ebstein anomaly of the tricuspid valve. (23001420)
2012
26
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
27
Right ventricular exclusion for a neonatal patient with Ebstein anomaly: a free wall resection of the right ventricle. (21719034)
2011
28
Acute severe hypoxaemia after mechanical ventilation in a patient with an Ebstein anomaly requiring extracorporeal membrane oxygenation. (22088878)
2011
29
Mutations in the sarcomere gene MYH7 in Ebstein anomaly. (21127202)
2011
30
E-page original images. A case of Ebstein anomaly and biventricular noncompaction. (21062694)
2010
31
An infant with Williams-Beuren syndrome and Ebstein anomaly. (20465859)
2010
32
Management and long-term outcome of neonatal Ebstein anomaly. (19775704)
2010
33
Current surgical therapy for Ebstein anomaly in neonates. (17140943)
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
Pseudo-Meigs' syndrome caused by retroperitoneal tumor in a patient with Ebstein anomaly. (16136373)
2005
37
Left heart lesions in patients with Ebstein anomaly. (15757018)
2005
38
Ebstein anomaly associated with unusual conduction delay and sick sinus syndrome. (15226641)
2004
39
Ebstein anomaly in a meerkat (Suricata suricatta). (15732599)
2004
40
Repair of the Ebstein anomaly. (15514626)
2004
41
Supraventricular tachyarrhythmias in Ebstein anomaly: management and outcome. (15573066)
2004
42
Atrioventricular nodal re-entrant tachycardia in a patient with Ebstein anomaly. (15310727)
2004
43
Case 71: Ebstein anomaly. (15163815)
2004
44
Cardiac blood-filled cyst at the atrialized portion of the right ventricle in a patient with ebstein anomaly: a case report. (10917970)
2000
45
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
46
Nongeometric quantitative assessment of right and left ventricular function: myocardial performance index in normal children and patients with Ebstein anomaly. (9758376)
1998
47
Fetal Ebstein anomaly--a rare cause of non-immune hydrops. (10830066)
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

Variations for Ebstein Anomaly

About this section

Expression for genes affiliated with Ebstein Anomaly

About this section
Search GEO for disease gene expression data for Ebstein Anomaly.

Pathways for genes affiliated with Ebstein Anomaly

About this section

GO Terms for genes affiliated with Ebstein Anomaly

About this section

Cellular components related to Ebstein Anomaly according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor complexGO:00905759.6GATA4, NKX2-5

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

(show all 7)
idNameGO IDScoreTop Affiliating Genes
1cardiac ventricle morphogenesisGO:00032089.9GATA4, NKX2-5
2cardiac muscle cell differentiationGO:00550079.8GATA4, NKX2-5
3atrial cardiac muscle cell developmentGO:00550149.7NKX2-5, NKX2-6
4atrial septum morphogenesisGO:00604139.6GATA4, NKX2-5
5heart loopingGO:00019479.5GATA4, NKX2-5
6embryonic heart tube developmentGO:00350509.4NKX2-5, NKX2-6
7pharyngeal system developmentGO:00600378.9NKX2-5, NKX2-6

Sources for Ebstein Anomaly

About this section
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