Ebstein malformation

General Information (adopted from Orphanet):

Synonyms, Signs: Ebstein anomaly of the tricuspid valve
Number of Symptoms 28
OrphanetNr: 1880
OMIM Id: 224700
ICD-10: Q22.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 3.5 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Congenital tricuspid malformation
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
(HPO:0100749) Chest pain Frequent [Orphanet] 92 / 7739
2
(HPO:0001622) Premature birth Very frequent [Orphanet] 100 / 7739
3
(HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
4
(HPO:0001631) Atria septal defect Very frequent [Orphanet] 274 / 7739
5
(HPO:0005110) Atrial fibrillation 71 / 7739
6
(HPO:0004309) Ventricular preexcitation 6 / 7739
7
(HPO:0001645) Sudden cardiac death 84 / 7739
8
(HPO:0011675) Arrhythmia Frequent [Orphanet] 226 / 7739
9
(HPO:0030680) Abnormality of cardiovascular system morphology Very frequent [Orphanet] 355 / 7739
10
(HPO:0002140) Ischemic stroke Occasional [Orphanet] 70 / 7739
11
(HPO:0011712) Right bundle branch block 34 / 7739
12
(HPO:0004760) Congenital septal defect Frequent [Orphanet] 69 / 7739
13
(HPO:0011025) Abnormality of cardiovascular system physiology Frequent [Orphanet] 41 / 7739
14
(HPO:0001643) Patent ductus arteriosus Frequent [Orphanet] 228 / 7739
15
(HPO:0001635) Congestive heart failure Occasional [Orphanet] 232 / 7739
16
(HPO:0010316) Ebstein's anomaly of the tricuspid valve 3 / 7739
17
(HPO:0001702) Abnormality of the tricuspid valve Very frequent [Orphanet] 32 / 7739
18
(HPO:0004306) Abnormality of the endocardium Occasional [Orphanet] 24 / 7739
19
(HPO:0004420) Arterial thrombosis Occasional [Orphanet] 20 / 7739
20
(HPO:0002093) Respiratory insufficiency Very frequent [Orphanet] 410 / 7739
21
(HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
22
(OMIM) Increased risk of sudden cardiac death 2 / 7739
23
(OMIM) Atrial standstill 6 / 7739
24
(OMIM) Deformed mitral valve 1 / 7739
25
(OMIM) Deformed tricuspid leaflets 1 / 7739
26
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
27
(OMIM) Downward placement of tricuspid valve 1 / 7739
28
(OMIM) Partial atrially displaced right ventricle 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Gouffault et al. (1960) found Ebstein malformation in 1 sib and a comparable deformity of the mitral valve in a sister. The same combination of Ebstein anomaly in 1 sib and comparable mitral anomaly in another was apparently ...
Molecular genetics OMIM In 28 patients with nonsyndromic Ebstein anomaly, Digilio et al. (2011) screened the candidate genes GATA4 (600576) and NKX2.5 (600584), but did not find any mutations.