MCID: EBS001
MIFTS: 51

Ebstein Anomaly

Categories: Cardiovascular diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ebstein Anomaly

MalaCards integrated aliases for Ebstein Anomaly:

Name: Ebstein Anomaly 58 12 54 38 45 15 17
Ebstein Anomaly of the Tricuspid Valve 60 30 6
Ebstein's Anomaly 12 54
Ebstein's Anomaly of Common Atrioventricular Valve 12
Ebstein's Anomaly of Right Atrioventricular Valve 12
Ebstein's Anomaly of Tricuspid Valve 12
Ebstein's Malformation 54
Ebstein Malformation 60

Characteristics:

Orphanet epidemiological data:

60
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:

58
Inheritance:
autosomal recessive


HPO:

33
ebstein anomaly:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:14289
OMIM 58 224700
KEGG 38 H01783
ICD9CM 36 746.2
MeSH 45 D004437
NCIt 51 C84681
SNOMED-CT 69 1796006
ICD10 34 Q22.5
ICD10 via Orphanet 35 Q22.5
UMLS via Orphanet 75 C0013481
Orphanet 60 ORPHA1880
MedGen 43 C0013481
UMLS 74 C0013481

Summaries for Ebstein Anomaly

OMIM : 58 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 anomaly of the tricuspid valve, is related to wolff-parkinson-white syndrome and endocardial fibroelastosis. An important gene associated with Ebstein Anomaly is MYH7 (Myosin Heavy Chain 7), and among its related pathways/superpathways are Cardiac conduction and Human Embryonic Stem Cell Pluripotency. Affiliated tissues include heart, lung and liver, and related phenotypes are respiratory insufficiency and fatigue

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.

NIH Rare Diseases : 54 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.

Wikipedia : 77 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 106)
# Related Disease Score Top Affiliating Genes
1 wolff-parkinson-white syndrome 30.7 MYH7 NKX2-5 NPPB
2 endocardial fibroelastosis 30.2 MYH7 NEBL
3 cardiomyopathy, dilated, 1e 30.2 MYH7 NKX2-5 TPM1
4 tricuspid valve disease 30.0 MYH7 NKX2-5 NPPB
5 atrioventricular septal defect 29.8 GATA4 NKX2-5
6 ventricular septal defect 29.8 GATA4 MYH7 NKX2-5 NPPB
7 atrioventricular block 29.8 GATA4 NKX2-5 NPPB
8 patent ductus arteriosus 1 29.7 FLNA GATA4 NKX2-5 NPPB
9 left ventricular noncompaction 29.7 MYH6 MYH7 NKX2-5 TPM1
10 tetralogy of fallot 29.5 GATA4 NKX2-5 NPPB TPM1
11 congestive heart failure 29.5 MYH6 MYH7 NPPB
12 hypoplastic left heart syndrome 29.5 MYH6 NKX2-5 NPPB
13 hypertrophic cardiomyopathy 29.5 MYH6 MYH7 TPM1
14 atrial heart septal defect 29.4 GATA4 MYH6 NKX2-5
15 patent foramen ovale 29.3 GATA4 MYH6 NKX2-5
16 heart disease 28.5 FLNA GATA4 MYH6 MYH7 NKX2-5 NPPB
17 rere-related disorders 10.3
18 pulmonic stenosis 10.2
19 aortic arch interruption 10.2
20 progressive familial heart block, type ia 10.2
21 atrial fibrillation 10.2
22 cor triatriatum 10.2
23 cor triatriatum dexter 10.2
24 partial atrioventricular canal 10.2
25 double-orifice mitral valve 10.2
26 heart septal defect 10.1 GATA4 NKX2-5
27 lymphatic malformation 7 10.1
28 mitral valve stenosis 10.1
29 double discordia 10.1
30 fetal edema 10.1
31 hydrops fetalis 10.1
32 pulmonary arteriovenous fistulas 10.1
33 pulmonary atresia with intact ventricular septum 10.1
34 brittle bone disorder 10.1
35 progressive familial heart block, type ib 10.1
36 aortic valve disease 1 10.1
37 endocarditis 10.1
38 arteriovenous malformation 10.1
39 hemopericardium 10.1
40 pericardial effusion 10.1
41 right bundle branch block 10.1
42 col1a1/2-related osteogenesis imperfecta 10.1
43 pulmonary arteriovenous malformation 10.1
44 transposition of the great arteries 10.1
45 eisenmenger syndrome 10.0 GATA4 NKX2-5
46 restrictive cardiomyopathy 10.0 MYH7 NPPB TPM1
47 cardiac tamponade 10.0
48 down syndrome 9.9
49 williams-beuren syndrome 9.9
50 hypoplastic left heart syndrome 1 9.9

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



Diseases related to Ebstein Anomaly

Symptoms & Phenotypes for Ebstein Anomaly

Human phenotypes related to Ebstein Anomaly:

60 33 (show all 22)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 respiratory insufficiency 60 33 hallmark (90%) Very frequent (99-80%) HP:0002093
2 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378
3 atrial septal defect 60 33 hallmark (90%) Very frequent (99-80%) HP:0001631
4 premature birth 60 33 hallmark (90%) Very frequent (99-80%) HP:0001622
5 imperforate tricuspid valve 60 33 hallmark (90%) Very frequent (99-80%) HP:0011575
6 ebstein anomaly of the tricuspid valve 33 hallmark (90%) HP:0010316
7 patent ductus arteriosus 60 33 frequent (33%) Frequent (79-30%) HP:0001643
8 chest pain 60 33 frequent (33%) Frequent (79-30%) HP:0100749
9 atrial fibrillation 60 33 frequent (33%) Frequent (79-30%) HP:0005110
10 right bundle branch block 60 33 frequent (33%) Frequent (79-30%) HP:0011712
11 sudden cardiac death 60 33 occasional (7.5%) Occasional (29-5%) HP:0001645
12 congestive heart failure 60 33 occasional (7.5%) Occasional (29-5%) HP:0001635
13 cerebral ischemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002637
14 arterial thrombosis 60 33 occasional (7.5%) Occasional (29-5%) HP:0004420
15 abnormal endocardium morphology 33 occasional (7.5%) HP:0004306
16 arrhythmia 60 Frequent (79-30%)
17 malformation of the heart and great vessels 60 Very frequent (99-80%)
18 abnormality of the endocardium 60 Occasional (29-5%)
19 abnormality of the cardiac septa 60 Frequent (79-30%)
20 ventricular preexcitation 33 HP:0004309
21 ebstein's anomaly of the tricuspid valve 60 Very frequent (99-80%)
22 atrial standstill 33 HP:0025478

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
atrial septal defect
atrial fibrillation
right bundle branch block
congenital heart defect
atrial standstill
more

Clinical features from OMIM:

224700

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 Anomaly of the Tricuspid Valve 30

Anatomical Context for Ebstein Anomaly

MalaCards organs/tissues related to Ebstein Anomaly:

42
Heart, Lung, Liver, Bone

Publications for Ebstein Anomaly

Articles related to Ebstein Anomaly:

(show top 50) (show all 186)
# Title Authors Year
1
Incessant Repetitive Wide QRS Tachycardia in a Young Woman With Ebstein Anomaly. ( 31059315 )
2019
2
Fetal echocardiographic prediction score for perinatal mortality of tricuspid valve malformation and Ebstein anomaly. ( 31008542 )
2019
3
Contemporary outcomes and mortality risks of Ebstein anomaly: A single-center experience in Thailand. ( 30791188 )
2019
4
Reconstructive surgery for Ebstein anomaly: three decades of experience. ( 30726890 )
2019
5
Exercise Capacity After Repair of Ebstein Anomaly in Adults. ( 30701277 )
2019
6
The first known use of the double-orifice valve technique for Ebstein anomaly, performed 30 years ago. ( 30501949 )
2019
7
An Adolescent with Left Ventricular Noncompaction and Ebstein Anomaly Presenting with Advanced Heart Failure: Discharge from Hospital with a Biventricular Assist Device. ( 30217690 )
2018
8
Ventricular arrhythmias and sudden death in patients with Ebstein anomaly: insights from a retrospective cohort study. ( 30123552 )
2018
9
Cavotricuspid isthmus ablation using multimodality imaging in Ebstein anomaly with a mechanical tricuspid valve replacement. ( 30116707 )
2018
10
Diastolic paradoxical septal motion in Ebstein anomaly. ( 30088492 )
2018
11
Ebstein Anomaly with Pregnancy: A Rare Case. ( 30009147 )
2018
12
Wide QRS complex supraventricular tachycardia with negative precordial concordance: Electrocardiographic clues for Mahaim pathway with Ebstein anomaly. ( 29997008 )
2018
13
Identification of a New Candidate Locus for Ebstein Anomaly in 1p36.2. ( 29928183 )
2018
14
Impact of the cone operation on left ventricular size, function, and dyssynchrony in Ebstein anomaly: a cardiovascular magnetic resonance study. ( 29783986 )
2018
15
Surgical Management and Outcomes of Ebstein Anomaly in Neonates and Infants: A Society of Thoracic Surgeons Congenital Heart Surgery Database Analysis. ( 29777671 )
2018
16
Fetal and Postnatal Echocardiographic Diagnosis of Ebstein Anomaly of the Mitral Valve. ( 29756160 )
2018
17
Editorial commentary: The caveats of cardiac imaging in Ebstein anomaly. ( 29661708 )
2018
18
Angiographic aspect of longstanding Starr-Edwards valve for type C Ebstein anomaly. ( 29587525 )
2018
19
Identification of clinically relevant phenotypes in patients with Ebstein anomaly. ( 29569399 )
2018
20
Cardiac imaging in Ebstein anomaly. ( 29409687 )
2018
21
Arrhythmia after cone repair for Ebstein anomaly: The Mayo Clinic experience in 143 young patients. ( 29316261 )
2018
22
Sudden death in patients with Ebstein anomaly. ( 29315367 )
2018
23
Improving Results of Surgery for Ebstein Anomaly: Where Are We After 235 Cone Repairs? ( 29174783 )
2018
24
Outcomes of Transcatheter Tricuspid Valve-in-Valve Implantation in Patients With Ebstein Anomaly. ( 29153244 )
2018
25
Left ventricular non-compaction with Ebstein anomaly attributed to a TPM1 mutation. ( 29024827 )
2018
26
Ebstein Anomaly and Sudden Childhood Death. ( 28940541 )
2018
27
Cardiac arrest and ventricular arrhythmia in adults with Ebstein anomaly and left ventricular non-compaction. ( 29305187 )
2018
28
Intramyocardial Hematoma After Ebstein Anomaly Repair. ( 27098604 )
2017
29
Four-Generation Family With Ebstein Anomaly Highlights Future Challenges in Congenital Heart Disease Genetics. ( 29237691 )
2017
30
Familial Ebstein Anomaly: Whole Exome Sequencing Identifies Novel Phenotype Associated With FLNA. ( 29237676 )
2017
31
Copy number variants in Ebstein anomaly. ( 29216221 )
2017
32
Atriofascicular Mahaim with Ebstein anomaly: A case report. ( 29021860 )
2017
33
Neonatal Ebstein Anomaly. ( 28958645 )
2017
34
Management of Neonatal Ebstein Anomaly: To Thine Own Self Be True. ( 28823331 )
2017
35
Neonatal Ebstein Anomaly: A 30-year Institutional Review. ( 28823330 )
2017
36
EBSTEIN ANOMALY IN THE TSUSHIMA LEOPARD CAT (PRIONAILURUS BENGALENSIS EUPTILURUS). ( 28749297 )
2017
37
Ebstein Anomaly. ( 28457239 )
2017
38
Surgical Strategy Toward Biventricular Repair for Severe Ebstein Anomaly in Neonates and Infancy. ( 28434546 )
2017
39
Modified Cone Reconstruction of the Tricuspid Valve for Ebstein Anomaly as Performed in Siberia. ( 28265211 )
2017
40
Ebstein Anomaly With QRS Fragmentation on Electrocardiogram. ( 28203575 )
2017
41
Prevention preferable to treatment: 3 case reports of patients experiencing right-sided heart failure after Ebstein anomaly correction. ( 28072699 )
2017
42
Assessment of Progressive Pathophysiology After Early Prenatal Diagnosis of the Ebstein Anomaly or Tricuspid Valve Dysplasia. ( 27793395 )
2017
43
Individualized Surgical Treatments for Children with Ebstein Anomaly. ( 27509000 )
2017
44
Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo ╬▒-tropomyosin gene mutation. ( 27177193 )
2016
45
Clinical characteristics and outcomes in pregnant women with Ebstein anomaly at the time of delivery in the USA: 2003-2012. ( 27079467 )
2016
46
Cone Reconstruction of Atypical Ebstein Anomaly Associated with Right Ventricular Apical Hypoplasia. ( 27047292 )
2016
47
An Approach to Endovascular Ventricular Pacing in a Patient with Ebstein Anomaly and a Mechanical Tricuspid Valve. ( 26920188 )
2016
48
Application of Cone Reconstruction for Neonatal Ebstein Anomaly or Tricuspid Valve Dysplasia. ( 26916715 )
2016
49
Tricuspid Valve Re-Repair in Ebstein Anomaly Using the Cone Technique. ( 26889444 )
2016
50
Catheter ablation of multiple accessory pathways in Ebstein anomaly guided by intracardiac echocardiography. ( 26851810 )
2016

Variations for Ebstein Anomaly

ClinVar genetic disease variations for Ebstein Anomaly:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 46;XY;t(18;20)(q21.1;p11.23)dn Translocation Uncertain significance
2 MYH7 NM_000257.3(MYH7): c.3658_3660delGAG (p.Glu1220del) deletion Likely pathogenic rs397516190 GRCh38 Chromosome 14, 23419911: 23419913
3 MYH7 NM_000257.3(MYH7): c.3658_3660delGAG (p.Glu1220del) deletion Likely pathogenic rs397516190 GRCh37 Chromosome 14, 23889120: 23889122
4 CEP85L; PLN NC_000006.11: g.118823423_118880554dup duplication Uncertain significance GRCh37 Chromosome 6, 118823423: 118880554

Expression for Ebstein Anomaly

Search GEO for disease gene expression data for Ebstein Anomaly.

Pathways for Ebstein Anomaly

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 9.43 MYH6 MYH7 TPM1
2 myosin complex GO:0016459 9.4 MYH6 MYH7
3 myosin filament GO:0032982 9.37 MYH6 MYH7
4 myofibril GO:0030016 9.33 MYH6 MYH7 TPM1
5 muscle myosin complex GO:0005859 9.32 MYH6 MYH7
6 Z disc GO:0030018 9.26 FLNA MYH6 MYH7 NEBL
7 stress fiber GO:0001725 8.92 MYH6 MYH7 TPM1 NEBL

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 muscle contraction GO:0006936 9.61 MYH6 MYH7 TPM1
2 regulation of blood pressure GO:0008217 9.58 MYH6 NPPB
3 heart looping GO:0001947 9.57 GATA4 NKX2-5
4 ATP metabolic process GO:0046034 9.56 MYH6 MYH7
5 regulation of heart contraction GO:0008016 9.55 MYH6 TPM1
6 regulation of heart rate GO:0002027 9.54 MYH6 MYH7
7 cardiac muscle cell differentiation GO:0055007 9.52 GATA4 NKX2-5
8 regulation of the force of heart contraction GO:0002026 9.51 MYH6 MYH7
9 sarcomere organization GO:0045214 9.5 MYH6 NKX2-5 TPM1
10 striated muscle contraction GO:0006941 9.49 MYH6 MYH7
11 cardiac muscle hypertrophy in response to stress GO:0014898 9.48 MYH6 MYH7
12 atrial septum morphogenesis GO:0060413 9.46 GATA4 NKX2-5
13 muscle filament sliding GO:0030049 9.43 MYH6 MYH7 TPM1
14 cardiac ventricle morphogenesis GO:0003208 9.4 GATA4 NKX2-5
15 positive regulation of cardioblast differentiation GO:0051891 9.37 GATA4 NKX2-5
16 ventricular cardiac muscle tissue morphogenesis GO:0055010 9.33 MYH6 MYH7 TPM1
17 adult heart development GO:0007512 9.13 MYH7 NKX2-5 MYH6
18 cardiac muscle contraction GO:0060048 8.92 TPM1 NKX2-5 MYH7 MYH6

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

# Name GO ID Score Top Affiliating Genes
1 transcription factor binding GO:0008134 9.54 FLNA GATA4 NKX2-5
2 actin binding GO:0003779 9.35 FLNA MYH6 MYH7 NEBL TPM1
3 structural constituent of muscle GO:0008307 9.32 NEBL TPM1
4 microfilament motor activity GO:0000146 9.26 MYH6 MYH7
5 actin-dependent ATPase activity GO:0030898 9.16 MYH6 MYH7
6 actin filament binding GO:0051015 9.02 FLNA MYH6 MYH7 NEBL TPM1

Sources for Ebstein Anomaly

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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