familial amyloid cardiomyopathy
GPTKB entity
Statements (30)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:disease
cardiomyopathy |
| gptkbp:affectsOrgan |
heart
|
| gptkbp:associatedWith |
transthyretin gene mutation
|
| gptkbp:causedBy |
amyloid protein deposition
|
| gptkbp:firstDescribed |
late 20th century
|
| gptkbp:hasDiagnosticMethod |
genetic testing
biopsy cardiac MRI echocardiography |
| https://www.w3.org/2000/01/rdf-schema#label |
familial amyloid cardiomyopathy
|
| gptkbp:ICD-10_code |
E85.1
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
105210
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
progressive
|
| gptkbp:riskFactor |
family history
African ancestry |
| gptkbp:symptom |
gptkb:arrhythmia
heart failure shortness of breath |
| gptkbp:synonym |
hereditary amyloid cardiomyopathy
|
| gptkbp:treatment |
gptkb:diflunisal
gptkb:tafamidis liver transplantation heart transplantation |
| gptkbp:bfsParent |
gptkb:TTR_gene
gptkb:hereditary_transthyretin_amyloidosis gptkb:transthyretin |
| gptkbp:bfsLayer |
7
|