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ATTRV122I amyloidosis

Disease definition

A rare hereditary ATTR amyloidosis characterized by predominant cardiac involvement resulting from myocardial deposition of misfolded TTR as amyloid; it may also be accompanied by sensorimotor/autonomic polyneuropathy, although less frequently than in other TTR variants.


Classification level: Disorder
  • Synonym(s):
    • ATTR cardiomyopathy
    • ATTRV122I-related amyloidosis
    • TTR-related amyloid cardiomyopathy
    • TTR-related cardiac amyloidosis
    • Transthyretin amyloid cardiopathy
    • Transthyretin-related familial amyloid cardiomyopathy
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: Adult
  • ICD-10: E85.4
  • ICD-11: 5D00.20
  • OMIM: 105210
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

General public


Disease review articles

Clinical Outcome Assessment (COA)

  • Patient-Centered Outcome Measures (PCOMs)
  • English (2023) - PROQOLIDTM

Genetic Testing

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)
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