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.
Titolo: | Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation |
Autori: | |
Data di pubblicazione: | 2019 |
Rivista: | |
Handle: | http://hdl.handle.net/11567/935893 |
Appare nelle tipologie: | 01.01 - Articolo su rivista |
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