Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation
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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.
KeywordsTransthyretin Amyloidosis Amyloid cardiomyopathy Tyr78Phe Transthyretin familial amyloid polyneuropathy
Compliance with Ethical Standards
This study complied with all ethical standards involving human subjects. The patient consented to participation into clinical surveys by signing an informed consent.
Conflict of Interest
The authors declare that they have no conflict of interest.
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