Tyr78Phe is a rare pathogenic transthyretin (TTR) mutation. Few previous reports described a late-onset hereditary transthyretin-related amyloidosis (ATTR-m) form with a variable phenotype, mainly dominated by neurological manifestations. We describe the case of a 69-year-old male with massive but asymptomatic cardiac infiltration and only subclinical neurological involvement, and review the literature to depict characteristics of the Tyr78Phe TTR mutation.
- Amyloid cardiomyopathy
- Transthyretin familial amyloid polyneuropathy
ASJC Scopus subject areas
- Molecular Medicine
- Pharmaceutical Science
- Cardiology and Cardiovascular Medicine