familial hypertrophic cardiomyopathy
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
cardiomyopathy |
| gptkbp:affects |
heart muscle
|
| gptkbp:associatedWith |
mutations in MYBPC3 gene
mutations in MYH7 gene mutations in TNNI3 gene mutations in TNNT2 gene |
| gptkbp:cause |
gptkb:arrhythmia
heart failure sudden cardiac death thickening of heart muscle |
| gptkbp:diagnosedBy |
genetic testing
echocardiogram |
| gptkbp:firstDescribed |
1958
|
| https://www.w3.org/2000/01/rdf-schema#label |
familial hypertrophic cardiomyopathy
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
192600
|
| gptkbp:prevalence |
1 in 500 people
|
| gptkbp:symptom |
shortness of breath
chest pain palpitations syncope |
| gptkbp:treatment |
gptkb:implantable_cardioverter-defibrillator
beta blockers calcium channel blockers septal myectomy |
| gptkbp:bfsParent |
gptkb:MYH7_(human)
gptkb:PRKAG2 |
| gptkbp:bfsLayer |
7
|