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Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation

Giacomo Tini1, Pier Filippo Vianello1, Chiara Gemelli2

  • 1Cardiovascular Unit, Department of Internal Medicine, University of Genova and San Martino Hospital, Viale Benedetto XV, 6, 16132, Genoa, Italy.

Journal of Cardiovascular Translational Research
|January 4, 2019
PubMed

Insights

The rare Tyr78Phe transthyretin (TTR) mutation causes hereditary amyloidosis (ATTR-m), often with neurological symptoms. This case shows significant cardiac involvement but minimal neurological signs in an elderly male.

Area of Science:

  • Cardiology
  • Neurology
  • Genetics

Background:

  • Hereditary transthyretin-related amyloidosis (ATTR-m) is a progressive condition caused by mutations in the transthyretin (TTR) gene.
  • The Tyr78Phe TTR mutation is rare and typically presents with late-onset neurological manifestations.
  • Previous literature on this specific mutation is limited, hindering a full understanding of its clinical spectrum.

Observation:

  • A 69-year-old male presented with findings suggestive of ATTR-m.
  • Cardiac magnetic resonance imaging revealed massive, yet asymptomatic, cardiac infiltration.
  • Neurological examination and testing indicated only subclinical neurological involvement.

Findings:

  • The patient's presentation challenges the typical phenotype associated with the Tyr78Phe TTR mutation.
  • This case highlights a variant phenotype characterized by predominant cardiac amyloid deposition with minimal neurological impact.
  • Literature review supports the variability of the Tyr78Phe mutation's clinical expression.

Implications:

  • Understanding the variable phenotype of the Tyr78Phe TTR mutation is crucial for accurate diagnosis and management.
  • Early detection of cardiac involvement, even in asymptomatic individuals, is important for ATTR-m patients.
  • Further research into TTR mutations can improve diagnostic strategies and therapeutic interventions for amyloidosis.
Keywords:
Amyloid cardiomyopathyAmyloidosisTransthyretinTransthyretin familial amyloid polyneuropathyTyr78Phe

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