Familial amyloid cardiomyopathy
ORPHA: 85451
Overview
Transthyretin (TTR)-related familial amyloidotic cardiomyopathy is a hereditary TTR-related systemic amyloidosis (ATTR) with predominant cardiac involvement resulting from myocardial infiltration of abnormal amyloid protein
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Familial amyloid cardiomyopathy, sourced from HPO and Orphanet clinical annotations.
Atrial arrhythmiaAbnormal EKGCardiac amyloidosisElevated circulating NT-proBNP concentrationIncreased circulating troponin T concentrationHypertrophic cardiomyopathyCardiomegalyRestrictive cardiomyopathyAbnormal atrioventricular conductionArrhythmiaReduced left ventricular ejection fractionStrokeCongestive heart failureAngina pectorisLeft ventricular hypertrophyAnemiaThromboembolismSpinal canal stenosisConstrictive median neuropathyAbnormal autonomic nervous system physiologyAbnormal enteric nervous system morphologyTendon rupturePolyneuropathyAortic valve stenosisPeripheral neuropathy
Classification & Codes
Orphanet Code
ORPHA:85451Familial amyloid cardiomyopathy
| Orphanet | ORPHA:85451 |
| Treatments | 0 drug(s) |
| Symptoms on record | 25 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO