MCID: EBS001
MIFTS: 46

Ebstein Anomaly

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Ebstein Anomaly

MalaCards integrated aliases for Ebstein Anomaly:

Name: Ebstein Anomaly 54 12 50 42 14
Ebstein's Anomaly 12 50 29
Ebstein's Anomaly of Common Atrioventricular Valve 12
Ebstein's Anomaly of Right Atrioventricular Valve 12
Ebstein Anomaly of the Tricuspid Valve 56
Ebstein's Anomaly of Tricuspid Valve 12
Ebstein's Anomaly [ambiguous] 12
Ebstein's Malformation 50
Ebstein Malformation 56

Characteristics:

Orphanet epidemiological data:

56
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:

54
Inheritance:
autosomal recessive


HPO:

32
ebstein anomaly:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Ebstein Anomaly

OMIM : 54
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 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome and joubert syndrome 13, and has symptoms including patent ductus arteriosus, premature birth and fatigue. 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.

NIH Rare Diseases : 50 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 58)
id Related Disease Score Top Affiliating Genes
1 cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome 10.3 MYH7 NPPB
2 joubert syndrome 13 10.1 MYH7 NKX2-5
3 cardiomyopathy, hypertrophic 6 10.1 MYH7 NKX2-5 NPPB
4 sudden infant death syndrome 10.0 MYH7 NKX2-5
5 pleomorphic liposarcoma 10.0 NKX2-6 NPPB
6 second-degree atrioventricular block 9.9 GATA4 NKX2-5 NPPB
7 complete atrioventricular canal-left heart obstruction syndrome 9.9 CRELD1 GATA4
8 persistent eustachian valve 9.9 CRELD1 GATA4
9 inferior vena cava interruption 9.9 CRELD1 GATA4
10 pasli disease 9.9 CRELD1 GATA4
11 testicular germ cell tumor non-seminomatous 9.8 CRELD1 NPPB
12 ventricular tachycardia, catecholaminergic polymorphic, 1 9.8 MYH7 NPPB
13 left ventricular noncompaction 9.8
14 endomyocardial fibrosis 9.8
15 ventricular septal defect 9.8
16 hydrops fetalis 9.8
17 cardiomyopathy 9.8
18 american histoplasmosis 9.8 CRELD1 NPPB
19 craniosynostosis 7 9.8 MYH7 NKX2-6 NPPB
20 ichthyosis lamellar 2 9.8 NKX2-5 NKX2-6 NPPB
21 suppurative otitis media 9.7 CRELD1 NPPB
22 ascending cholangitis 9.7 GDF1 NKX2-6 NPPB
23 congenital diarrhea 7 with exudative enteropathy 9.7 GDF1 NKX2-6 NPPB
24 thrombosis 9.7
25 heart disease 9.7
26 megaloblastic anemia 9.7
27 sick sinus syndrome 9.7
28 meige syndrome 9.7
29 thiamine-responsive megaloblastic anemia syndrome 9.7
30 tetralogy of fallot 9.7
31 williams-beuren syndrome 9.7
32 left ventricular outflow tract obstruction 9.7
33 hypoplastic left heart syndrome 9.7
34 pseudo-meigs syndrome 9.7
35 atrioventricular septal defect 9.7
36 right aortic arch 9.7
37 tricuspid valve disease 9.7
38 congenitally corrected transposition of the great arteries 9.7
39 transposition of the great arteries 9.7
40 dentine erosion 9.6 GATA4 NKX2-5 NKX2-6
41 fleck retina of kandori 9.6 CRELD1 NKX2-6
42 vitelliform macular dystrophy 9.6 GATA4 NKX2-5 NKX2-6
43 ectodermal dysplasia 9.5 GATA4 MYH7 NKX2-5 NPPB
44 trophoblastic neoplasm 9.4 CRELD1 NKX2-6
45 adams-oliver syndrome 5 9.3 CRELD1 NKX2-6 NPPB
46 progressive multifocal leukoencephalopathy 9.3 CRELD1 GATA4 NKX2-6
47 cervical serous adenocarcinoma 9.3 CRELD1 GATA4 NKX2-6
48 takayasu arteritis 8.8 CRELD1 GDF1 NKX2-5 NKX2-6
49 malignant pineal area germ cell neoplasm 8.5 GATA4 GDF1 MYH7 NKX2-5 NKX2-6 NPPB
50 optic nerve disease 8.4 CRELD1 GATA4 GDF1 NKX2-5 NKX2-6

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:

54

Cardiac:
atrial septal defect
atrial fibrillation
atrial standstill
increased risk of sudden cardiac death
congenital heart defect
more

Clinical features from OMIM:

224700

Human phenotypes related to Ebstein Anomaly:

56 32 (show all 20)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 patent ductus arteriosus 56 32 frequent (33%) Frequent (79-30%) HP:0001643
2 premature birth 56 32 hallmark (90%) Very frequent (99-80%) HP:0001622
3 fatigue 56 32 hallmark (90%) Very frequent (99-80%) HP:0012378
4 atrial fibrillation 56 32 frequent (33%) Frequent (79-30%) HP:0005110
5 congestive heart failure 56 32 occasional (7.5%) Occasional (29-5%) HP:0001635
6 sudden cardiac death 56 32 occasional (7.5%) Occasional (29-5%) HP:0001645
7 respiratory insufficiency 56 32 hallmark (90%) Very frequent (99-80%) HP:0002093
8 right bundle branch block 56 32 frequent (33%) Frequent (79-30%) HP:0011712
9 chest pain 56 32 frequent (33%) Frequent (79-30%) HP:0100749
10 arterial thrombosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004420
11 cerebral ischemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0002637
12 abnormality of the endocardium 56 32 occasional (7.5%) Occasional (29-5%) HP:0004306
13 ebstein's anomaly of the tricuspid valve 56 32 hallmark (90%) Very frequent (99-80%) HP:0010316
14 imperforate tricuspid valve 56 32 hallmark (90%) Very frequent (99-80%) HP:0011575
15 atrial septal defect 32 hallmark (90%) HP:0001631
16 arrhythmia 56 Frequent (79-30%)
17 malformation of the heart and great vessels 56 Very frequent (99-80%)
18 atria septal defect 56 Very frequent (99-80%)
19 abnormality of the cardiac septa 56 Frequent (79-30%)
20 ventricular preexcitation 32 HP:0004309

Drugs & Therapeutics for Ebstein Anomaly

Interventional clinical trials:


id 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:

id Genetic test Affiliating Genes
1 Ebstein's Anomaly 29

Anatomical Context for Ebstein Anomaly

MalaCards organs/tissues related to Ebstein Anomaly:

39
Heart, Lung, Liver, Bone

Publications for Ebstein Anomaly

Articles related to Ebstein Anomaly:

(show top 50) (show all 152)
id Title Authors Year
1
Ebstein Anomaly and Sudden Childhood Death. ( 28940541 )
2017
2
Modified Cone Reconstruction of the Tricuspid Valve for Ebstein Anomaly as Performed in Siberia. ( 28265211 )
2017
3
Ebstein Anomaly With QRS Fragmentation on Electrocardiogram. ( 28203575 )
2017
4
Surgical Strategy Toward Biventricular Repair for Severe Ebstein Anomaly in Neonates and Infancy. ( 28434546 )
2017
5
EBSTEIN ANOMALY IN THE TSUSHIMA LEOPARD CAT (PRIONAILURUS BENGALENSIS EUPTILURUS). ( 28749297 )
2017
6
Neonatal Ebstein Anomaly: A 30-year Institutional Review. ( 28823330 )
2017
7
Prevention preferable to treatment: 3 case reports of patients experiencing right-sided heart failure after Ebstein anomaly correction. ( 28072699 )
2017
8
Assessment of Progressive Pathophysiology After Early Prenatal Diagnosis of the Ebstein Anomaly or Tricuspid Valve Dysplasia. ( 27793395 )
2017
9
Ebstein Anomaly. ( 28457239 )
2017
10
Management of Neonatal Ebstein Anomaly: To Thine Own Self Be True. ( 28823331 )
2017
11
Tricuspid Valve Re-Repair in Ebstein Anomaly Using the Cone Technique. ( 26889444 )
2016
12
Clinical characteristics and outcomes in pregnant women with Ebstein anomaly at the time of delivery in the USA: 2003-2012. ( 27079467 )
2016
13
Case of Ebstein Anomaly Complicated by Left Ventricular Outflow Tract Obstruction Secondary to Deformed Basal Septum Attributable to Atrialized Right Ventricle. ( 26811277 )
2016
14
Single-Ventricle Outcomes After Neonatal Palliation of Severe Ebstein Anomaly With Modified Starnes Procedure. ( 27777295 )
2016
15
More than valve repair: Effect of cone reconstruction on right ventricular geometry and function in patients with Ebstein anomaly. ( 26788689 )
2016
16
An Approach to Endovascular Ventricular Pacing in a Patient with Ebstein Anomaly and a Mechanical Tricuspid Valve. ( 26920188 )
2016
17
Ebstein Anomaly in Pregnancy. ( 28143995 )
2016
18
Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways. ( 27788187 )
2016
19
Contemporary Outcomes and Factors Associated With Mortality After a Fetal or Neonatal Diagnosis of Ebstein Anomaly and Tricuspid Valve Disease. ( 27476984 )
2016
20
Catheter ablation of multiple accessory pathways in Ebstein anomaly guided by intracardiac echocardiography. ( 26851810 )
2016
21
Intramyocardial Hematoma After Ebstein Anomaly Repair: A Case of Unexpected Diagnosis and Its Management. ( 27098604 )
2016
22
Cone Reconstruction of Atypical Ebstein Anomaly Associated with Right Ventricular Apical Hypoplasia. ( 27047292 )
2016
23
Application of Cone Reconstruction for Neonatal Ebstein Anomaly or Tricuspid Valve Dysplasia. ( 26916715 )
2016
24
Natural Course of Adult Ebstein Anomaly When Treated according to Current Recommendation. ( 27709852 )
2016
25
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo I+-tropomyosin gene mutation. ( 27177193 )
2016
26
Individualized Surgical Treatments for Children with Ebstein Anomaly. ( 27509000 )
2016
27
Left Ventricular Assist Device Insertion in a Patient With Biventricular Noncompaction Cardiomyopathy, Ebstein Anomaly, and a Left Atrial Mass: A Case Report. ( 27749293 )
2016
28
Optimal Surgical Ablation of Atrial Tachyarrhythmias During Correction of Ebstein Anomaly. ( 25825196 )
2015
29
Ebstein Anomaly: An Overview for Nursing. ( 26395651 )
2015
30
Biventricular Badness: Rare Images of Ebstein Anomaly of the Tricuspid Valve in a Patient with Hypoplastic Left Heart Syndrome. ( 25854848 )
2015
31
Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era: A Multicenter Study. ( 26059011 )
2015
32
Partial PFO Closure for Persistent Hypoxemia in a Patient with Ebstein Anomaly. ( 25945265 )
2015
33
Caution: There is no "all or none" with Ebstein anomaly. ( 26546202 )
2015
34
Case 1/2015. A 76-year-old male patient with Ebstein anomaly in natural course. ( 25714409 )
2015
35
Ebstein anomaly review: what's now, what's next? ( 26357983 )
2015
36
Demonstration of circular shunt in fetal Ebstein anomaly. ( 26556976 )
2015
37
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
38
Detection of right ventricle thrombosis in patient with Ebstein anomaly of tricuspid valve after Fontan procedure by CT. ( 24939075 )
2014
39
Nonimmune hydrops fetalis with ebstein anomaly. ( 25148508 )
2014
40
Successful treatment of a rare case of neonatal Ebstein anomaly in a very low-birth-weight premature neonate. ( 24943125 )
2014
41
An unusual ultrasonographic manifestation of a fetal Ebstein anomaly. ( 25469344 )
2014
42
Ebstein anomaly: assessment, management, and timing of intervention. ( 25145925 )
2014
43
The total right/left-volume index: a new and simplified cardiac magnetic resonance measure to evaluate the severity of Ebstein anomaly of the tricuspid valve: a comparison with heart failure markers from various modalities. ( 24807407 )
2014
44
Right ventricular endomyocardial fibrosis mimicking Ebstein anomaly in a patient with BehAset's disease: case report and review of the literature. ( 24533554 )
2014
45
Ebstein anomaly: a review. ( 25161135 )
2014
46
Neonatal double switch for congenitally corrected transposition with Ebstein anomaly and bilateral superior venae cavae. ( 25284207 )
2014
47
Direct percutaneous implantation of an Edwards-SAPIEN valve in tricuspid position in a degenerated bioprosthesis in a patient with Ebstein anomaly. ( 25172078 )
2014
48
Increased risk of possible paradoxical embolic events in adults with ebstein anomaly and severe tricuspid regurgitation. ( 23601093 )
2014
49
Ebstein anomaly and Trisomy 21: A rare association. ( 24701093 )
2014
50
Aortic saddle embolism caused by right ventricle thrombus in a 2-year-old girl with Ebstein anomaly and Glenn shunt. ( 24566489 )
2014

Variations for Ebstein Anomaly

ClinVar genetic disease variations for Ebstein Anomaly:

6
id 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:

id 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:

id Name GO ID Score Top Affiliating Genes
1 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 14)
id Name GO ID Score Top Affiliating Genes
1 heart looping GO:0001947 9.54 GATA4 NKX2-5
2 cardiac muscle contraction GO:0060048 9.52 MYH7 NKX2-5
3 heart development GO:0007507 9.51 NKX2-5 NKX2-6
4 cardiac muscle cell differentiation GO:0055007 9.49 GATA4 NKX2-5
5 embryonic heart tube development GO:0035050 9.48 NKX2-5 NKX2-6
6 pharyngeal system development GO:0060037 9.46 NKX2-5 NKX2-6
7 atrial septum morphogenesis GO:0060413 9.4 GATA4 NKX2-5
8 endocardial cushion development GO:0003197 9.37 CRELD1 GATA4
9 adult heart development GO:0007512 9.32 MYH7 NKX2-5
10 ventricular cardiac muscle cell development GO:0055015 9.26 NKX2-5 NKX2-6
11 cardiac ventricle morphogenesis GO:0003208 9.16 GATA4 NKX2-5
12 cell growth involved in cardiac muscle cell development GO:0061049 9.13 GATA4
13 positive regulation of cardioblast differentiation GO:0051891 8.96 GATA4 NKX2-5
14 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
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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