MCID: EBS001
MIFTS: 52

Ebstein Anomaly

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Ebstein Anomaly

MalaCards integrated aliases for Ebstein Anomaly:

Name: Ebstein Anomaly 53 12 49 36 41 14
Ebstein's Anomaly 12 49 28
Ebstein's Anomaly of Common Atrioventricular Valve 12
Ebstein's Anomaly of Right Atrioventricular Valve 12
Ebstein Anomaly of the Tricuspid Valve 55
Ebstein's Anomaly of Tricuspid Valve 12
Ebstein's Anomaly [ambiguous] 12
Ebstein's Malformation 49
Ebstein Malformation 55

Characteristics:

Orphanet epidemiological data:

55
ebstein malformation
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;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
ebstein anomaly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 53 224700
Disease Ontology 12 DOID:14289
ICD10 32 Q22.5
ICD9CM 34 746.2
MeSH 41 D004437
NCIt 46 C84681
SNOMED-CT 64 1796006 204357006
Orphanet 55 ORPHA1880
UMLS via Orphanet 70 C0013481
ICD10 via Orphanet 33 Q22.5
MedGen 39 C0013481
KEGG 36 H01783
UMLS 69 C0013481

Summaries for Ebstein Anomaly

OMIM : 53 Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right ventricle. The valve leaflets may be dysplastic, and a variable portion of the proximal part of the right ventricle is in continuity with the right atrium ('atrialized'), because of the abnormally positioned tricuspid valve. The severity of this defect includes a spectrum ranging from severe disturbance in fetal and neonatal life to virtually asymptomatic survival to adult life. Associated extracardiac anomalies in the setting of chromosomal or mendelian disorders occur in about 20% of patients with Ebstein anomaly. Nonsyndromic Ebstein anomaly can occur as a sporadic or a familial defect (summary by Digilio et al., 2011). (224700)

MalaCards based summary : Ebstein Anomaly, also known as ebstein's anomaly, is related to hypoplastic left heart syndrome and hypertrophic cardiomyopathy, and has symptoms including fatigue, chest pain and sudden cardiac death. An important gene associated with Ebstein Anomaly is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Human Embryonic Stem Cell Pluripotency and Cardiac Progenitor Differentiation. Affiliated tissues include heart, lung and liver, and related phenotypes are cardiovascular system and embryo

NIH Rare Diseases : 49 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

Disease Ontology : 12 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

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

(show top 50) (show all 61)
# Related Disease Score Top Affiliating Genes
1 hypoplastic left heart syndrome 29.8 NKX2-5 NPPB
2 hypertrophic cardiomyopathy 29.5 MYH7 NPPB TPM1
3 ventricular septal defect 28.7 GATA4 GDF1 NKX2-5 NKX2-6 NPPB
4 atrial heart septal defect 27.9 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
5 atrioventricular septal defect 27.9 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
6 tricuspid valve disease 27.6 CRELD1 GDF1 MYH7 NKX2-5 NKX2-6 NPPB
7 transposition of the great arteries 27.5 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6 NPPB
8 tetralogy of fallot 27.5 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6 NPPB
9 heart disease 27.4 CRELD1 GATA4 GDF1 MYH7 NKX2-5 NKX2-6
10 endocardial fibroelastosis 10.3 MYH7 NPPB
11 holt-oram syndrome 10.2 MYH7 NKX2-5
12 cardiomyopathy, familial hypertrophic, 1 10.1 MYH7 TPM1
13 familial isolated dilated cardiomyopathy 10.1 MYH7 TPM1
14 pulmonary valve insufficiency 10.1 NKX2-6 NPPB
15 wolff-parkinson-white syndrome 10.1 MYH7 NKX2-5 NPPB
16 aortic valve insufficiency 10.1 NKX2-6 NPPB
17 atrioventricular block 10.0 GATA4 NKX2-5 NPPB
18 cardiomyopathy, dilated, 1e 10.0 MYH7 NKX2-5 TPM1
19 intrinsic cardiomyopathy 10.0 MYH7 TPM1
20 dextro-looped transposition of the great arteries 10.0 GDF1 NKX2-6
21 complete atrioventricular canal-tetralogy of fallot syndrome 10.0 CRELD1 GATA4
22 complete atrioventricular canal-left heart obstruction syndrome 9.9 CRELD1 GATA4
23 partial atrioventricular canal 9.9 CRELD1 GATA4
24 patent foramen ovale 9.9 GATA4 NKX2-5
25 mitral valve stenosis 9.9 CRELD1 NPPB
26 complete atrioventricular canal-ventricle hypoplasia syndrome 9.9 CRELD1 GATA4
27 tricuspid valve insufficiency 9.9 CRELD1 NPPB
28 fibrosis of extraocular muscles, congenital, 1 9.9
29 aging 9.9
30 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
31 left ventricular noncompaction 9.9
32 endomyocardial fibrosis 9.9
33 double discordia 9.9
34 hydrops fetalis 9.9
35 mitral valve insufficiency 9.9 CRELD1 NPPB
36 aortic valve disease 2 9.9 MYH7 NKX2-6 NPPB
37 atrial standstill 1 9.9 MYH7 NPPB
38 familial atrial fibrillation 9.8 GATA4 NKX2-5 NKX2-6
39 lymphedema, hereditary, ii 9.8
40 williams-beuren syndrome 9.8
41 complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy 9.8
42 hypoplastic left heart syndrome 1 9.8
43 thiamine-responsive megaloblastic anemia syndrome 9.8
44 cyanosis, transient neonatal 9.8
45 cardiac arrest 9.8
46 thrombosis 9.8
47 megaloblastic anemia 9.8
48 sick sinus syndrome 9.8
49 pseudo-meigs syndrome 9.8
50 right aortic arch 9.8

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



Diseases related to Ebstein Anomaly

Symptoms & Phenotypes for Ebstein Anomaly

Symptoms via clinical synopsis from OMIM:

53
Cardiac:
atrial septal defect
atrial fibrillation
right bundle branch block
congenital heart defect
atrial standstill
more

Clinical features from OMIM:

224700

Human phenotypes related to Ebstein Anomaly:

55 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 fatigue 55 31 hallmark (90%) Very frequent (99-80%) HP:0012378
2 chest pain 55 31 frequent (33%) Frequent (79-30%) HP:0100749
3 sudden cardiac death 55 31 occasional (7.5%) Occasional (29-5%) HP:0001645
4 respiratory insufficiency 55 31 hallmark (90%) Very frequent (99-80%) HP:0002093
5 patent ductus arteriosus 55 31 frequent (33%) Frequent (79-30%) HP:0001643
6 congestive heart failure 55 31 occasional (7.5%) Occasional (29-5%) HP:0001635
7 atrial septal defect 55 31 hallmark (90%) Very frequent (99-80%) HP:0001631
8 cerebral ischemia 55 31 occasional (7.5%) Occasional (29-5%) HP:0002637
9 arterial thrombosis 55 31 occasional (7.5%) Occasional (29-5%) HP:0004420
10 premature birth 55 31 hallmark (90%) Very frequent (99-80%) HP:0001622
11 atrial fibrillation 55 31 frequent (33%) Frequent (79-30%) HP:0005110
12 ebstein's anomaly of the tricuspid valve 55 31 hallmark (90%) Very frequent (99-80%) HP:0010316
13 imperforate tricuspid valve 55 31 hallmark (90%) Very frequent (99-80%) HP:0011575
14 right bundle branch block 55 31 frequent (33%) Frequent (79-30%) HP:0011712
15 arrhythmia 55 Frequent (79-30%)
16 malformation of the heart and great vessels 55 Very frequent (99-80%)
17 abnormality of the endocardium 55 Occasional (29-5%)
18 abnormality of the cardiac septa 55 Frequent (79-30%)
19 ventricular preexcitation 31 HP:0004309
20 atrial standstill 31 HP:0025478
21 abnormal endocardium morphology 31 occasional (7.5%) HP:0004306

MGI Mouse Phenotypes related to Ebstein Anomaly:

43
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 CRELD1 GATA4 GDF1 MYH7 NKX2-5 NKX2-6
2 embryo MP:0005380 9.02 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6

Drugs & Therapeutics for Ebstein Anomaly

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Study of Autologous Bone Marrow Derived Mononuclear Cells for Treatment of Ebstein Anomaly Recruiting NCT02914171 Phase 1
2 Behaviour of Tricuspid Valve Regurgitation in Volume and/or Pressure Loaded Right Heart Unknown status NCT01444222
3 Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic Methods Completed NCT01907971
4 Genes Causing Ebstein's Anomaly Completed NCT00497705

Search NIH Clinical Center for Ebstein Anomaly

Cochrane evidence based reviews: ebstein anomaly

Genetic Tests for Ebstein Anomaly

Genetic tests related to Ebstein Anomaly:

# Genetic test Affiliating Genes
1 Ebstein's Anomaly 28

Anatomical Context for Ebstein Anomaly

MalaCards organs/tissues related to Ebstein Anomaly:

38
Heart, Lung, Liver, Bone

Publications for Ebstein Anomaly

Articles related to Ebstein Anomaly:

(show top 50) (show all 164)
# Title Authors Year
1
Cardiac arrest and ventricular arrhythmia in adults with Ebstein anomaly and left ventricular non-compaction. ( 29305187 )
2018
2
Arrhythmia after cone repair for Ebstein anomaly: The Mayo Clinic experience in 143 young patients. ( 29316261 )
2018
3
Cardiac imaging in Ebstein anomaly. ( 29409687 )
2018
4
Outcomes of Transcatheter Tricuspid Valve-in-Valve Implantation in Patients With Ebstein Anomaly. ( 29153244 )
2018
5
Improving Results of Surgery for Ebstein Anomaly: Where Are We After 235 Cone Repairs? ( 29174783 )
2018
6
Sudden death in patients with Ebstein anomaly. ( 29315367 )
2018
7
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation. ( 29024827 )
2018
8
Assessment of Progressive Pathophysiology After Early Prenatal Diagnosis of the Ebstein Anomaly or Tricuspid Valve Dysplasia. ( 27793395 )
2017
9
Copy number variants in Ebstein anomaly. ( 29216221 )
2017
10
Modified Cone Reconstruction of the Tricuspid Valve for Ebstein Anomaly as Performed in Siberia. ( 28265211 )
2017
11
Ebstein Anomaly and Sudden Childhood Death. ( 28940541 )
2017
12
Neonatal Ebstein Anomaly. ( 28958645 )
2017
13
Atriofascicular Mahaim with Ebstein anomaly: A case report. ( 29021860 )
2017
14
Surgical Strategy Toward Biventricular Repair for Severe Ebstein Anomaly in Neonates and Infancy. ( 28434546 )
2017
15
Four-Generation Family With Ebstein Anomaly Highlights Future Challenges in Congenital Heart Disease Genetics. ( 29237691 )
2017
16
Management of Neonatal Ebstein Anomaly: To Thine Own Self Be True. ( 28823331 )
2017
17
EBSTEIN ANOMALY IN THE TSUSHIMA LEOPARD CAT (PRIONAILURUS BENGALENSIS EUPTILURUS). ( 28749297 )
2017
18
Prevention preferable to treatment: 3 case reports of patients experiencing right-sided heart failure after Ebstein anomaly correction. ( 28072699 )
2017
19
Ebstein Anomaly With QRS Fragmentation on Electrocardiogram. ( 28203575 )
2017
20
Neonatal Ebstein Anomaly: A 30-year Institutional Review. ( 28823330 )
2017
21
Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With<i>FLNA</i>. ( 29237676 )
2017
22
Ebstein Anomaly. ( 28457239 )
2017
23
Left Ventricular Assist Device Insertion in a Patient With Biventricular Noncompaction Cardiomyopathy, Ebstein Anomaly, and a Left Atrial Mass: A Case Report. ( 27749293 )
2016
24
An Approach to Endovascular Ventricular Pacing in a Patient with Ebstein Anomaly and a Mechanical Tricuspid Valve. ( 26920188 )
2016
25
Cone Reconstruction of Atypical Ebstein Anomaly Associated with Right Ventricular Apical Hypoplasia. ( 27047292 )
2016
26
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. ( 27788187 )
2016
27
Clinical characteristics and outcomes in pregnant women with Ebstein anomaly at the time of delivery in the USA: 2003-2012. ( 27079467 )
2016
28
Tricuspid Valve Re-Repair in Ebstein Anomaly Using the Cone Technique. ( 26889444 )
2016
29
Single-Ventricle Outcomes After Neonatal Palliation of Severe Ebstein Anomaly With Modified Starnes Procedure. ( 27777295 )
2016
30
Catheter ablation of multiple accessory pathways in Ebstein anomaly guided by intracardiac echocardiography. ( 26851810 )
2016
31
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo I+-tropomyosin gene mutation. ( 27177193 )
2016
32
More than valve repair: Effect of cone reconstruction on right ventricular geometry and function in patients with Ebstein anomaly. ( 26788689 )
2016
33
Ebstein Anomaly in Pregnancy. ( 28143995 )
2016
34
Intramyocardial Hematoma After Ebstein Anomaly Repair: A Case of Unexpected Diagnosis and Its Management. ( 27098604 )
2016
35
Individualized Surgical Treatments for Children with Ebstein Anomaly. ( 27509000 )
2016
36
Natural Course of Adult Ebstein Anomaly When Treated according to Current Recommendation. ( 27709852 )
2016
37
Contemporary Outcomes and Factors Associated With Mortality After a Fetal or Neonatal Diagnosis of Ebstein Anomaly and Tricuspid Valve Disease. ( 27476984 )
2016
38
Application of Cone Reconstruction for Neonatal Ebstein Anomaly or Tricuspid Valve Dysplasia. ( 26916715 )
2016
39
Case of Ebstein Anomaly Complicated by Left Ventricular Outflow Tract Obstruction Secondary to Deformed Basal Septum Attributable to Atrialized Right Ventricle. ( 26811277 )
2016
40
Case 1/2015. A 76-year-old male patient with Ebstein anomaly in natural course. ( 25714409 )
2015
41
Biventricular Badness: Rare Images of Ebstein Anomaly of the Tricuspid Valve in a Patient with Hypoplastic Left Heart Syndrome. ( 25854848 )
2015
42
Partial PFO Closure for Persistent Hypoxemia in a Patient with Ebstein Anomaly. ( 25945265 )
2015
43
Optimal Surgical Ablation of Atrial Tachyarrhythmias During Correction of Ebstein Anomaly. ( 25825196 )
2015
44
Development of Left Atrial Thrombus and Subsequent Cardioembolic Stroke in a 21-Year-Old Man With Ebstein Anomaly Who Previously Underwent Pulmonary Vein Isolation Ablation and Cox Maze III Procedure: Significance of Left Atrial Mechanical Function. ( 25802257 )
2015
45
Ebstein anomaly review: what's now, what's next? ( 26357983 )
2015
46
Ebstein Anomaly: An Overview for Nursing. ( 26395651 )
2015
47
Demonstration of circular shunt in fetal Ebstein anomaly. ( 26556976 )
2015
48
Caution: There is no "all or none" with Ebstein anomaly. ( 26546202 )
2015
49
Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era: A Multicenter Study. ( 26059011 )
2015
50
Neonatal double switch for congenitally corrected transposition with Ebstein anomaly and bilateral superior venae cavae. ( 25284207 )
2014

Variations for Ebstein Anomaly

ClinVar genetic disease variations for Ebstein Anomaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MYH7 NM_000257.3(MYH7): c.3658_3660delGAG (p.Glu1220del) deletion Likely pathogenic rs397516190 GRCh37 Chromosome 14, 23889120: 23889122

Expression for Ebstein Anomaly

Search GEO for disease gene expression data for Ebstein Anomaly.

Pathways for Ebstein Anomaly

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.7 GATA4 MYH7 NKX2-5 NPPB
2 11.05 GATA4 NKX2-5
3 10.92 GATA4 NKX2-5
4 10.27 GATA4 MYH7 NKX2-5 NPPB
5 9.93 GATA4 NKX2-5

GO Terms for Ebstein Anomaly

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

# Name GO ID Score Top Affiliating Genes
1 sarcomere GO:0030017 9.16 MYH7 TPM1
2 stress fiber GO:0001725 8.96 MYH7 TPM1
3 RNA polymerase II transcription factor complex GO:0090575 8.62 GATA4 NKX2-5

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 heart looping GO:0001947 9.55 GATA4 NKX2-5
2 sarcomere organization GO:0045214 9.54 NKX2-5 TPM1
3 muscle filament sliding GO:0030049 9.52 MYH7 TPM1
4 cardiac muscle cell differentiation GO:0055007 9.51 GATA4 NKX2-5
5 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.49 MYH7 TPM1
6 embryonic heart tube development GO:0035050 9.48 NKX2-5 NKX2-6
7 pharyngeal system development GO:0060037 9.46 NKX2-5 NKX2-6
8 adult heart development GO:0007512 9.43 MYH7 NKX2-5
9 atrial septum morphogenesis GO:0060413 9.4 GATA4 NKX2-5
10 endocardial cushion development GO:0003197 9.37 CRELD1 GATA4
11 ventricular cardiac muscle cell development GO:0055015 9.32 NKX2-5 NKX2-6
12 cardiac ventricle morphogenesis GO:0003208 9.26 GATA4 NKX2-5
13 positive regulation of cardioblast differentiation GO:0051891 9.16 GATA4 NKX2-5
14 atrial cardiac muscle cell development GO:0055014 8.96 NKX2-5 NKX2-6
15 cardiac muscle contraction GO:0060048 8.8 MYH7 NKX2-5 TPM1

Sources for Ebstein Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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