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ATTRV122I amyloidosis

Disease definition

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.

ORPHA:85451

  • 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+  I43.1*
  • OMIM: 105210
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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