MCID: EBS001
MIFTS: 44

Ebstein Anomaly malady

Categories: Rare diseases, Cardiovascular diseases, Fetal diseases

Aliases & Classifications for Ebstein Anomaly

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 13DISEASES, 52Orphanet, 37MeSH, 28ICD10, 30ICD9CM, 43NCIt, 66UMLS, 67UMLS via Orphanet, 29ICD10 via Orphanet, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Ebstein Anomaly:

Name: Ebstein Anomaly 50 11 46 13 37
Ebstein's Anomaly 11 46
Ebstein's Anomaly of Common Atrioventricular Valve 11
Ebstein's Anomaly of Right Atrioventricular Valve 11
 
Ebstein Anomaly of the Tricuspid Valve 52
Ebstein's Anomaly of Tricuspid Valve 11
Ebstein's Malformation 46
Ebstein Malformation 52

Characteristics:

Orphanet epidemiological data:

52
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

HPO:

62
ebstein anomaly:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 224700
Disease Ontology11 DOID:14289
ICD1028 Q22.5
ICD9CM30 746.2
MeSH37 D004437
SNOMED-CT60 1796006, 204357006
NCIt43 C84681
Orphanet52 ORPHA1880
UMLS via Orphanet67 C0013481
ICD10 via Orphanet29 Q22.5

Summaries for Ebstein Anomaly

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OMIM:50 Ebstein anomaly is characterized by downward displacement of variable severity of the tricuspid valve into the right... (224700) more...

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 craniosynostosis, and has symptoms including premature birth, atria septal defect and abnormality of the tricuspid valve. An important gene associated with Ebstein Anomaly is MYH7 (Myosin Heavy Chain 7), and among its related pathways are Cardiac Progenitor Differentiation and Heart Development. Affiliated tissues include heart, lung and liver.

Disease Ontology:11 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:46 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

Related Diseases for Ebstein Anomaly

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

(show top 50)    (show all 54)
idRelated DiseaseScoreTop Affiliating Genes
1cerebellar vermis aplasia with associated features suggesting smith-lemli-opitz syndrome and meckel syndrome10.3MYH7, NPPB
2craniosynostosis10.1MYH7, NPPB
3cardiomyopathy, hypertrophic 610.0MYH7, NKX2-5
4left ventricular noncompaction9.9
5endomyocardial fibrosis9.9
6ventricular septal defect9.9
7hydrops fetalis9.9
8second-degree atrioventricular block9.9GATA4, NKX2-5, NPPB
9suppurative cholangitis9.9GDF1, NKX2-6
10univentricular heart with single atrio-ventricular valve9.9CRELD1, GATA4
11azygos continuation of the inferior vena cava9.9CRELD1, GATA4
12straddling and/or overriding mitral valve9.9CRELD1, GATA4
13partial duplication of the short arm of chromosome x9.8CRELD1, GATA4
14thiamine-responsive megaloblastic anemia syndrome9.8
15williams-beuren syndrome9.8
16tetralogy of fallot9.8
17hypoplastic left heart syndrome9.8
18atrioventricular septal defect9.8
19tricuspid valve disease9.8
20heart disease9.8
21hypertrophic cardiomyopathy9.8
22megaloblastic anemia9.8
23sick sinus syndrome9.8
24congenital heart disease9.8
25meige syndrome9.8
26cardiomyopathy9.8
27left ventricular outflow tract obstruction9.8
28pseudo-meigs syndrome9.8
29right aortic arch9.8
30congenitally corrected transposition of the great arteries9.8
31transposition of the great arteries9.8
32ichthyosis lamellar 29.8NKX2-5, NPPB
33autonomic neuropathy9.8CRELD1, NPPB
346-phosphogluconate dehydrogenase deficiency9.7GATA4, NKX2-5, NKX2-6
35photokeratitis9.6GATA4, NKX2-5, NKX2-6
36vitelliform macular dystrophy9.6GATA4, NKX2-5, NKX2-6
37huriez syndrome9.6CRELD1, NKX2-6
38testicular trophoblastic tumor9.5CRELD1, NKX2-6
39childhood parosteal osteogenic sarcoma9.4CRELD1, NKX2-6
40adams-oliver syndrome 59.3CRELD1, NKX2-6, NPPB
41pyelonephritis9.3GATA4, NKX2-5, NKX2-6, NPPB
42ceroid lipofuscinosis, neuronal, 69.3CRELD1, NKX2-6, NPPB
43cervical adenoid basal carcinoma9.3CRELD1, GATA4, NKX2-6
44pancreatic serous cystadenocarcinoma9.3CRELD1, GATA4, NKX2-6
45pericardium disease8.6CRELD1, GDF1, MYH7, NKX2-6, NPPB
46melanotic neuroectodermal tumor8.6GATA4, GDF1, MYH7, NKX2-5, NKX2-6, NPPB
47viral hepatitis8.4CRELD1, GATA4, GDF1, NKX2-5, NKX2-6
48fetal alcohol syndrome8.4CRELD1, GATA4, GDF1, NKX2-5, NKX2-6
49neovascular glaucoma8.4CRELD1, GATA4, GDF1, NKX2-5, NKX2-6
50dhdds-cdg8.4CRELD1, GATA4, GDF1, NKX2-5, NKX2-6

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



Diseases related to ebstein anomaly

Symptoms for Ebstein Anomaly

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Symptoms by clinical synopsis from OMIM:

224700

Clinical features from OMIM:

224700

Symptoms:

 52 (show all 18)
  • premature birth
  • defect in the atrial septum
  • congestive heart failure
  • patent ductus arteriosus
  • sudden cardiac death
  • abnormality of the cardiac septa
  • respiratory insufficiency
  • malformation of the heart and great vessels
  • cerebral ischemia
  • abnormality of the endocardium
  • arterial thrombosis
  • atrial fibrillation
  • ebstein's anomaly of the tricuspid valve
  • imperforate tricuspid valve
  • arrhythmia
  • right bundle branch block
  • fatigue
  • chest pain

HPO human phenotypes related to Ebstein Anomaly:

(show all 17)
id Description Frequency HPO Source Accession
1 premature birth hallmark (90%) HP:0001622
2 atria septal defect hallmark (90%) HP:0001631
3 abnormality of the tricuspid valve hallmark (90%) HP:0001702
4 respiratory insufficiency hallmark (90%) HP:0002093
5 patent ductus arteriosus typical (50%) HP:0001643
6 chest pain typical (50%) HP:0100749
7 congestive heart failure occasional (7.5%) HP:0001635
8 sudden cardiac death occasional (7.5%) HP:0001645
9 cerebral ischemia occasional (7.5%) HP:0002637
10 abnormality of the endocardium occasional (7.5%) HP:0004306
11 arterial thrombosis occasional (7.5%) HP:0004420
12 atria septal defect HP:0001631
13 sudden cardiac death HP:0001645
14 ventricular preexcitation HP:0004309
15 atrial fibrillation HP:0005110
16 ebstein's anomaly of the tricuspid valve HP:0010316
17 right bundle branch block HP:0011712

Drugs & Therapeutics for Ebstein Anomaly

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Study of Autologous Bone Marrow Derived Mononuclear Cells for Treatment of Ebstein AnomalyRecruitingNCT02914171Phase 1
2Assessment of Left and Right Ventricular Function in Patients With Ebstein Anomaly With Different Echocardiographic MethodsCompletedNCT01907971
3Genes Causing Ebstein's AnomalyCompletedNCT00497705
4Behaviour 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

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Anatomical Context for Ebstein Anomaly

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MalaCards organs/tissues related to Ebstein Anomaly:

34
Heart, Lung, Liver, Bone

Animal Models for Ebstein Anomaly or affiliated genes

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Publications for Ebstein Anomaly

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Articles related to Ebstein Anomaly:

(show top 50)    (show all 137)
idTitleAuthorsYear
1
More than valve repair: Effect of cone reconstruction on right ventricular geometry and function in patients with Ebstein anomaly. (26788689)
2016
2
Contemporary Outcomes and Factors Associated With Mortality After a Fetal or Neonatal Diagnosis of Ebstein Anomaly and Tricuspid Valve Disease. (27476984)
2016
3
Intramyocardial Hematoma After Ebstein Anomaly Repair: A Case of Unexpected Diagnosis and Its Management. (27098604)
2016
4
Ebstein anomaly review: what's now, what's next? (26357983)
2015
5
Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era: A Multicenter Study. (26059011)
2015
6
Biventricular Badness: Rare Images of Ebstein Anomaly of the Tricuspid Valve in a Patient with Hypoplastic Left Heart Syndrome. (25854848)
2015
7
Nonimmune hydrops fetalis with ebstein anomaly. (25148508)
2014
8
Ebstein anomaly: a review. (25161135)
2014
9
Cone Reconstruction in Children with Ebstein Anomaly: The Mayo Clinic Experience. (24373319)
2013
10
Ebstein anomaly associated with left ventricular noncompaction: an autosomal dominant condition that can be caused by mutations in MYH7. (23794396)
2013
11
Surgical management of a neonate with congenitally corrected transposition of the great vessels, hypoplastic right aortic arch, and Ebstein anomaly. (23947600)
2013
12
Individualized quantified tricuspid valve annuloplasty for treating Ebstein anomaly. (22953685)
2012
13
Common CTA features of Ebstein anomaly in a middle-aged woman with a heart murmur and dyspnea on exertion. (23000178)
2012
14
Diagnosis and management of ebstein anomaly of the tricuspid valve. (23001420)
2012
15
Right ventricular endomyocardial fibrosis mimicking Ebstein anomaly in a patient with BehAset's disease: case report and review of the literature. (23207789)
2012
16
Ebstein anomaly in an adult presenting with wide QRS tachycardia: diagnostic and therapeutic dilemmas. (21570234)
2012
17
Case images: A very rare case: Ebstein anomaly, biventricular noncompaction and pre-excitation in the same patient. (23363907)
2012
18
Cardiac magnetic resonance imaging and the assessment of ebstein anomaly in adults. (21247528)
2011
19
Epidemiology of Ebstein anomaly: prevalence and patterns in Texas, 1999-2005. (21465650)
2011
20
Cone reconstruction of the tricuspid valve in Ebstein anomaly with or without one and a half ventricle repair. (21320712)
2011
21
An infant with Williams-Beuren syndrome and Ebstein anomaly. (20465859)
2010
22
Rapid two-stage Starnes procedure for a symptomatic neonate with Ebstein anomaly. (21095378)
2010
23
Cardiac memory in Ebstein anomaly. (20962340)
2010
24
Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: outflow tract obstruction, coarctation of the aorta, tetralogy of Fallot, Ebstein anomaly and Marfan's syndrome. (20352138)
2010
25
Right ventricular exclusion procedure with total cavopulmonary connection: an alternative operative approach in adults with severe Ebstein anomaly. (18455608)
2008
26
Functional status after operation for Ebstein anomaly: the Mayo Clinic experience. (18672167)
2008
27
Can we modify late functional outcome in Ebstein anomaly by altering surgical strategy? (18672168)
2008
28
Effect of operation for Ebstein anomaly on left ventricular function. (19064031)
2008
29
The outcomes of operations for 539 patients with Ebstein anomaly. (18455593)
2008
30
Images in cardiovascular medicine. Ebstein anomaly associated with left ventricular noncompaction. (18852371)
2008
31
Multislice computed tomography angiography of Ebstein anomaly and anomalous coronary artery. (19083904)
2007
32
Early and midterm results in anatomic repair of Ebstein anomaly. (18023660)
2007
33
Fate of the right ventricle after fenestrated right ventricular exclusion for severe neonatal Ebstein anomaly. (18023652)
2007
34
Results of the 1.5-ventricle repair for Ebstein anomaly and the failing right ventricle. (17467446)
2007
35
New insight into the tricuspid valve in Ebstein anomaly using three-dimensional echocardiography. (17041114)
2006
36
Repair of Ebstein anomaly: early and mid-term results. (17061609)
2006
37
Ebstein anomaly and duplication of the distal arm of chromosome 15: report of two patients. (16278886)
2005
38
Sonographic features of Ebstein anomaly associated with hydrops fetalis: a report of two cases. (15756659)
2005
39
Left heart lesions in patients with Ebstein anomaly. (15757018)
2005
40
Ebstein anomaly in a meerkat (Suricata suricatta). (15732599)
2004
41
Repair of the Ebstein anomaly. (15514626)
2004
42
Case 71: Ebstein anomaly. (15163815)
2004
43
Cardiac blood-filled cyst at the atrialized portion of the right ventricle in a patient with ebstein anomaly: a case report. (10917970)
2000
44
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
45
Nongeometric quantitative assessment of right and left ventricular function: myocardial performance index in normal children and patients with Ebstein anomaly. (9758376)
1998
46
Re: Rheumatic mitral stenosis with Ebstein anomaly of tricuspid value. (8792193)
1996
47
Duplication of the tricuspid valve with Ebstein anomaly. (6716633)
1984
48
Cardiomegaly and cyanosis on exercise--the diagnosis of Ebstein anomaly. (6445655)
1980
49
Surgical treatment of tachyarrhythmias in patients with both an Ebstein anomaly and a Kent bundle. (661355)
1978
50
Surgical treatment of Ebstein anomaly. (5401821)
1969

Variations for Ebstein Anomaly

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Expression for genes affiliated with Ebstein Anomaly

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Search GEO for disease gene expression data for Ebstein Anomaly.

Pathways for genes affiliated with Ebstein Anomaly

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GO Terms for genes affiliated with Ebstein Anomaly

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor complexGO:00905759.7GATA4, NKX2-5

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

(show all 14)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of cardioblast differentiationGO:005189110.2GATA4, NKX2-5
2atrial cardiac muscle cell developmentGO:005501410.1NKX2-5, NKX2-6
3cardiac muscle cell differentiationGO:005500710.0GATA4, NKX2-5
4adult heart developmentGO:000751210.0MYH7, NKX2-5
5pharyngeal system developmentGO:006003710.0NKX2-5, NKX2-6
6atrial septum morphogenesisGO:00604139.9GATA4, NKX2-5
7ventricular cardiac muscle cell developmentGO:00550159.8NKX2-5, NKX2-6
8cardiac ventricle morphogenesisGO:00032089.7GATA4, NKX2-5
9cell developmentGO:00484689.7GATA4, GDF1
10embryonic heart tube developmentGO:00350509.7NKX2-5, NKX2-6
11heart loopingGO:00019479.6GATA4, NKX2-5
12BMP signaling pathwayGO:00305099.6GDF1, NKX2-5
13endocardial cushion developmentGO:00031979.5CRELD1, GATA4
14cardiac muscle contractionGO:00600489.5MYH7, NKX2-5

Sources for Ebstein Anomaly

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet