Cytoscape Web
Click node...

Ebstein malformation
1 OMIM reference -
1 associated gene
8 connected diseases
19 signs/symptoms
Disease Type of connection
Classic multiminicore myopathy
Familial isolated dilated cardiomyopathy
Hyaline body myopathy
Laing distal myopathy
Left ventricular noncompaction
Helicoid peripapillary chorioretinal degeneration
46,XY partial gonadal dysgenesis
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Synonym(s):
- Ebstein anomaly of the tricuspid valve
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare surgical cardiac disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: variable
Average age of death: any age
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
MYH7 P12883160760
Very frequent
- Asthenia / fatigue / weakness
- Atrial septal defect / interauricular communication
- Autosomal recessive inheritance
- Congenital cardiac anomaly / malformation / cardiopathy
- Prematurity
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- tricuspid valve atresia / stenosis / narrowing
- Tricuspid valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly

Frequent
- Cardiac conduction defect / sinoauricular / heart / auriculoventricular / branch block
- Cardiac rhythm disorder / arrhythmia
- Cardiac septal defect
- Patent ductus arteriosus
- Thoracic / chest pain

Occasional
- Arterial embolism / thrombosis
- Arterial pulse abolition
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Endocardium anomalies / fibroelastosis / endocarditis
- Heart / cardiac failure
- Transient cerebral ischemia / stroke