Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation

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.

This is a preview of subscription content, log in to check access.

Fig. 1

References

  1. 1.

    Rapezzi, C., Quarta, C. C., Obici, L., et al. (2013). Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective. European Heart Journal, 34(7), 520–528. https://doi.org/10.1093/eurheartj/ehs123.

    CAS  Article  PubMed  Google Scholar 

  2. 2.

    Redondo, C., Damas, A. M., Olofsson, A., et al. (2000). Search for intermediate structures in transthyretin fibrillogenesis: soluble tetrameric Tyr78Phe TTR expresses a specific epitope present only in amyloid fibrils. Journal of Molecular Biology, 304(3), 461–470. https://doi.org/10.1006/jmbi.2000.4220.

    CAS  Article  PubMed  Google Scholar 

  3. 3.

    Anesi, E., Palladini, G., Perfetti, V., et al. (2001). Therapeutic advances demand accurate typing of amyloid deposits. The American Journal of Medicine, 111(3), 243–244.

    CAS  Article  Google Scholar 

  4. 4.

    Magy, N., Liepnieks, J. J., Gil, H., et al. (2003). A transthyretin mutation (Tyr78Phe) associated with peripheral neuropathy, carpal tunnel syndrome and skin amyloidosis. Amyloid, 10(1), 29–33.

    CAS  Article  Google Scholar 

  5. 5.

    Riboldi, G., Del Bo, R., Ranieri, M., et al. (2011). Tyr78Phe transthyretin mutation with predominant motor neuropathy as the initial presentation. Case Report in Neurology, 3(1), 62–68. https://doi.org/10.1159/000324925.

    Article  Google Scholar 

Download references

Author information

Affiliations

Authors

Corresponding author

Correspondence to Marco Canepa.

Ethics declarations

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.

Additional information

Publisher’s Note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Associate Editor Mazen Hanna oversaw the review of this article

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

Tini, G., Vianello, P.F., Gemelli, C. et al. Amyloid Cardiomyopathy in the Rare Transthyretin Tyr78Phe Mutation. J. of Cardiovasc. Trans. Res. 12, 514–516 (2019). https://doi.org/10.1007/s12265-018-9859-0

Download citation

Keywords

  • Transthyretin
  • Amyloidosis
  • Amyloid cardiomyopathy
  • Tyr78Phe
  • Transthyretin familial amyloid polyneuropathy