Published 2019
| Version v1
Publication
Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation
Contributors
Description
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.
Additional details
Identifiers
- URL
- http://hdl.handle.net/11567/935893
- URN
- urn:oai:iris.unige.it:11567/935893
Origin repository
- Origin repository
- UNIGE