Abstract
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.
Original language | English |
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Pages (from-to) | 514-516 |
Number of pages | 3 |
Journal | Journal of Cardiovascular Translational Research |
Volume | 12 |
Issue number | 6 |
DOIs | |
Publication status | Published - Dec 2019 |
Keywords
- Amyloid cardiomyopathy
- Amyloidosis
- Transthyretin
- Transthyretin familial amyloid polyneuropathy
- Tyr78Phe
ASJC Scopus subject areas
- Molecular Medicine
- Genetics
- Pharmaceutical Science
- Cardiology and Cardiovascular Medicine
- Genetics(clinical)