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 57 12 53 37 44 15
Ebstein's Anomaly of the Tricuspid Valve 29 6
Ebstein's Anomaly 12 53
Ebstein's Anomaly of Common Atrioventricular Valve 12
Ebstein's Anomaly of Right Atrioventricular Valve 12
Ebstein Anomaly of the Tricuspid Valve 59
Ebstein's Anomaly of Tricuspid Valve 12
Ebstein's Malformation 53
Ebstein Malformation 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
Inheritance:
autosomal recessive


HPO:

32
ebstein anomaly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 224700
Disease Ontology 12 DOID:14289
ICD10 33 Q22.5
ICD9CM 35 746.2
MeSH 44 D004437
NCIt 50 C84681
SNOMED-CT 68 1796006 204357006
Orphanet 59 ORPHA1880
ICD10 via Orphanet 34 Q22.5
UMLS via Orphanet 74 C0013481
MedGen 42 C0013481
KEGG 37 H01783
UMLS 73 C0013481

Summaries for Ebstein Anomaly

OMIM : 57 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 of the tricuspid valve, is related to transposition of the great arteries and left ventricular noncompaction. 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 premature birth and atrial septal defect

NIH Rare Diseases : 53 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.

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.

Wikipedia : 76 Ebstein\'s anomaly is a congenital heart defect in which the septal and posterior leaflets of the... more...

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 60)
# Related Disease Score Top Affiliating Genes
1 transposition of the great arteries 30.0 GDF1 NKX2-5
2 left ventricular noncompaction 29.8 MYH7 NKX2-5 TPM1
3 hypoplastic left heart syndrome 29.3 NKX2-5 NKX2-6 NPPB
4 ventricular septal defect 27.4 GATA4 GDF1 MYH7 NKX2-5 NKX2-6 NPPB
5 atrioventricular septal defect 26.9 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
6 atrial heart septal defect 26.9 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6
7 tricuspid valve disease 26.4 CRELD1 GDF1 MYH7 NKX2-5 NKX2-6 NPPB
8 tetralogy of fallot 26.2 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6 NPPB
9 heart disease 25.9 CRELD1 GATA4 GDF1 MYH7 NKX2-5 NKX2-6
10 atrial septal defect 4 10.3 GATA4 NKX2-5
11 patent foramen ovale 10.2 GATA4 NKX2-5
12 holt-oram syndrome 10.2 MYH7 NKX2-5
13 pulmonary valve insufficiency 10.2 NKX2-6 NPPB
14 familial isolated dilated cardiomyopathy 10.2 MYH7 TPM1
15 aortic valve insufficiency 10.1 NKX2-6 NPPB
16 pulmonary valve stenosis 10.0 GATA4 NKX2-6
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 9.9 GDF1 NKX2-6
21 complete atrioventricular canal-tetralogy of fallot syndrome 9.9 CRELD1 GATA4
22 complete atrioventricular canal-left heart obstruction syndrome 9.9 CRELD1 GATA4
23 partial atrioventricular canal 9.9 CRELD1 GATA4
24 aging 9.9
25 hydrops fetalis, nonimmune, and/or atrial septal defect 9.9
26 endomyocardial fibrosis 9.9
27 double discordia 9.9
28 fetal edema 9.9
29 hydrops fetalis 9.9
30 complete atrioventricular canal-ventricle hypoplasia syndrome 9.9 CRELD1 GATA4
31 tricuspid valve insufficiency 9.9 CRELD1 NPPB
32 mitral valve stenosis 9.8 CRELD1 NPPB
33 aortic valve disease 2 9.8 MYH7 NKX2-6 NPPB
34 mitral valve insufficiency 9.8 CRELD1 NPPB
35 lymphedema, hereditary, ii 9.7
36 williams-beuren syndrome 9.7
37 hypoplastic left heart syndrome 1 9.7
38 thiamine-responsive megaloblastic anemia syndrome 9.7
39 cardiac arrest 9.7
40 thrombosis 9.7
41 hypertrophic cardiomyopathy 9.7
42 megaloblastic anemia 9.7
43 sick sinus syndrome 9.7
44 placenta disease 9.7
45 aortic coarctation 9.7
46 pseudo-meigs syndrome 9.7
47 right aortic arch 9.7
48 congenitally corrected transposition of the great arteries 9.7
49 aortic valve disease 1 9.7 NKX2-6 NPPB
50 restrictive cardiomyopathy 9.7 MYH7 TPM1

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:

57
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:

59 32 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 premature birth 59 32 hallmark (90%) Very frequent (99-80%) HP:0001622
2 atrial septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001631
3 congestive heart failure 59 32 occasional (7.5%) Occasional (29-5%) HP:0001635
4 patent ductus arteriosus 59 32 frequent (33%) Frequent (79-30%) HP:0001643
5 sudden cardiac death 59 32 occasional (7.5%) Occasional (29-5%) HP:0001645
6 respiratory insufficiency 59 32 hallmark (90%) Very frequent (99-80%) HP:0002093
7 cerebral ischemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002637
8 arterial thrombosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0004420
9 atrial fibrillation 59 32 frequent (33%) Frequent (79-30%) HP:0005110
10 ebstein's anomaly of the tricuspid valve 59 32 hallmark (90%) Very frequent (99-80%) HP:0010316
11 imperforate tricuspid valve 59 32 hallmark (90%) Very frequent (99-80%) HP:0011575
12 right bundle branch block 59 32 frequent (33%) Frequent (79-30%) HP:0011712
13 fatigue 59 32 hallmark (90%) Very frequent (99-80%) HP:0012378
14 chest pain 59 32 frequent (33%) Frequent (79-30%) HP:0100749
15 abnormality of the cardiac septa 59 Frequent (79-30%)
16 malformation of the heart and great vessels 59 Very frequent (99-80%)
17 abnormality of the endocardium 59 Occasional (29-5%)
18 arrhythmia 59 Frequent (79-30%)
19 ventricular preexcitation 32 HP:0004309
20 atrial standstill 32 HP:0025478
21 abnormal endocardium morphology 32 occasional (7.5%) HP:0004306

MGI Mouse Phenotypes related to Ebstein Anomaly:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 GATA4 GDF1 MYH7 NKX2-5 NKX2-6 CRELD1
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 of the Tricuspid Valve 29

Anatomical Context for Ebstein Anomaly

MalaCards organs/tissues related to Ebstein Anomaly:

41
Heart, Lung, Liver, Bone

Publications for Ebstein Anomaly

Articles related to Ebstein Anomaly:

(show top 50) (show all 173)
# Title Authors Year
1
Angiographic aspect of longstanding Starr-Edwards valve for type C Ebstein anomaly. ( 29587525 )
2018
2
Cardiac imaging in Ebstein anomaly. ( 29409687 )
2018
3
Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2. ( 29928183 )
2018
4
Arrhythmia after cone repair for Ebstein anomaly: The Mayo Clinic experience in 143 young patients. ( 29316261 )
2018
5
Improving Results of Surgery for Ebstein Anomaly: Where Are We After 235 Cone Repairs? ( 29174783 )
2018
6
Surgical Management and Outcomes of Ebstein Anomaly in Neonates and Infants: A Society of Thoracic Surgeons Congenital Heart Surgery Database Analysis. ( 29777671 )
2018
7
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation. ( 29024827 )
2018
8
Fetal and Postnatal Echocardiographic Diagnosis of Ebstein Anomaly of the Mitral Valve. ( 29756160 )
2018
9
Identification of clinically relevant phenotypes in patients with Ebstein anomaly. ( 29569399 )
2018
10
Impact of the cone operation on left ventricular size, function, and dyssynchrony in Ebstein anomaly: a cardiovascular magnetic resonance study. ( 29783986 )
2018
11
Sudden death in patients with Ebstein anomaly. ( 29315367 )
2018
12
Cardiac arrest and ventricular arrhythmia in adults with Ebstein anomaly and left ventricular non-compaction. ( 29305187 )
2018
13
Outcomes of Transcatheter Tricuspid Valve-in-Valve Implantation in Patients With Ebstein Anomaly. ( 29153244 )
2018
14
The caveats of cardiac imaging in Ebstein anomaly. ( 29661708 )
2018
15
Ebstein Anomaly With QRS Fragmentation on Electrocardiogram. ( 28203575 )
2017
16
Modified Cone Reconstruction of the Tricuspid Valve for Ebstein Anomaly as Performed in Siberia. ( 28265211 )
2017
17
Surgical Strategy Toward Biventricular Repair for Severe Ebstein Anomaly in Neonates and Infancy. ( 28434546 )
2017
18
EBSTEIN ANOMALY IN THE TSUSHIMA LEOPARD CAT (PRIONAILURUS BENGALENSIS EUPTILURUS). ( 28749297 )
2017
19
Neonatal Ebstein Anomaly: A 30-year Institutional Review. ( 28823330 )
2017
20
Assessment of Progressive Pathophysiology After Early Prenatal Diagnosis of the Ebstein Anomaly or Tricuspid Valve Dysplasia. ( 27793395 )
2017
21
Prevention preferable to treatment: 3 case reports of patients experiencing right-sided heart failure after Ebstein anomaly correction. ( 28072699 )
2017
22
Ebstein Anomaly and Sudden Childhood Death. ( 28940541 )
2017
23
Atriofascicular Mahaim with Ebstein anomaly: A case report. ( 29021860 )
2017
24
Management of Neonatal Ebstein Anomaly: To Thine Own Self Be True. ( 28823331 )
2017
25
Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With<i>FLNA</i>. ( 29237676 )
2017
26
Ebstein Anomaly. ( 28457239 )
2017
27
Copy number variants in Ebstein anomaly. ( 29216221 )
2017
28
Four-Generation Family With Ebstein Anomaly Highlights Future Challenges in Congenital Heart Disease Genetics. ( 29237691 )
2017
29
Neonatal Ebstein Anomaly. ( 28958645 )
2017
30
Ebstein Anomaly in Pregnancy. ( 28143995 )
2016
31
Tricuspid Valve Re-Repair in Ebstein Anomaly Using the Cone Technique. ( 26889444 )
2016
32
Cone Reconstruction of Atypical Ebstein Anomaly Associated with Right Ventricular Apical Hypoplasia. ( 27047292 )
2016
33
Case of Ebstein Anomaly Complicated by Left Ventricular Outflow Tract Obstruction Secondary to Deformed Basal Septum Attributable to Atrialized Right Ventricle. ( 26811277 )
2016
34
Left Ventricular Assist Device Insertion in a Patient With Biventricular Noncompaction Cardiomyopathy, Ebstein Anomaly, and a Left Atrial Mass: A Case Report. ( 27749293 )
2016
35
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. ( 27788187 )
2016
36
Contemporary Outcomes and Factors Associated With Mortality After a Fetal or Neonatal Diagnosis of Ebstein Anomaly and Tricuspid Valve Disease. ( 27476984 )
2016
37
An Approach to Endovascular Ventricular Pacing in a Patient with Ebstein Anomaly and a Mechanical Tricuspid Valve. ( 26920188 )
2016
38
Clinical characteristics and outcomes in pregnant women with Ebstein anomaly at the time of delivery in the USA: 2003-2012. ( 27079467 )
2016
39
Intramyocardial Hematoma After Ebstein Anomaly Repair: A Case of Unexpected Diagnosis and Its Management. ( 27098604 )
2016
40
Natural Course of Adult Ebstein Anomaly When Treated according to Current Recommendation. ( 27709852 )
2016
41
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo I+-tropomyosin gene mutation. ( 27177193 )
2016
42
More than valve repair: Effect of cone reconstruction on right ventricular geometry and function in patients with Ebstein anomaly. ( 26788689 )
2016
43
Individualized Surgical Treatments for Children with Ebstein Anomaly. ( 27509000 )
2016
44
Application of Cone Reconstruction for Neonatal Ebstein Anomaly or Tricuspid Valve Dysplasia. ( 26916715 )
2016
45
Single-Ventricle Outcomes After Neonatal Palliation of Severe Ebstein Anomaly With Modified Starnes Procedure. ( 27777295 )
2016
46
Catheter ablation of multiple accessory pathways in Ebstein anomaly guided by intracardiac echocardiography. ( 26851810 )
2016
47
Caution: There is no &amp;quot;all or none&amp;quot; with Ebstein anomaly. ( 26546202 )
2015
48
Biventricular Badness: Rare Images of Ebstein Anomaly of the Tricuspid Valve in a Patient with Hypoplastic Left Heart Syndrome. ( 25854848 )
2015
49
Demonstration of circular shunt in fetal Ebstein anomaly. ( 26556976 )
2015
50
Optimal Surgical Ablation of Atrial Tachyarrhythmias During Correction of Ebstein Anomaly. ( 25825196 )
2015

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
2 MYH7 NM_000257.3(MYH7): c.3658_3660delGAG (p.Glu1220del) deletion Likely pathogenic rs397516190 GRCh38 Chromosome 14, 23419911: 23419913
3 46;XY;t(18;20)(q21.1;p11.23)dn Translocation Uncertain significance

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 RNA polymerase II transcription factor complex GO:0090575 9.26 GATA4 NKX2-5
2 stress fiber GO:0001725 9.16 MYH7 TPM1
3 sarcomere GO:0030017 8.96 MYH7 TPM1
4 myofibril GO:0030016 8.62 MYH7 TPM1

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 heart development GO:0007507 9.7 GATA4 NKX2-5 NKX2-6
2 heart looping GO:0001947 9.58 GATA4 NKX2-5
3 cell development GO:0048468 9.57 GATA4 GDF1
4 sarcomere organization GO:0045214 9.56 NKX2-5 TPM1
5 digestive tract development GO:0048565 9.55 GATA4 NKX2-6
6 muscle filament sliding GO:0030049 9.54 MYH7 TPM1
7 cardiac muscle cell differentiation GO:0055007 9.51 GATA4 NKX2-5
8 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.49 MYH7 TPM1
9 embryonic heart tube development GO:0035050 9.48 NKX2-5 NKX2-6
10 pharyngeal system development GO:0060037 9.46 NKX2-5 NKX2-6
11 adult heart development GO:0007512 9.43 MYH7 NKX2-5
12 atrial septum morphogenesis GO:0060413 9.4 GATA4 NKX2-5
13 endocardial cushion development GO:0003197 9.37 CRELD1 GATA4
14 ventricular cardiac muscle cell development GO:0055015 9.32 NKX2-5 NKX2-6
15 cardiac ventricle morphogenesis GO:0003208 9.26 GATA4 NKX2-5
16 positive regulation of cardioblast differentiation GO:0051891 9.16 GATA4 NKX2-5
17 cardiac muscle contraction GO:0060048 9.13 MYH7 NKX2-5 TPM1
18 atrial cardiac muscle cell development GO:0055014 8.62 NKX2-5 NKX2-6

Sources for Ebstein Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....