Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant.

@article{Sattianayagam2012CardiacPA,
  title={Cardiac phenotype and clinical outcome of familial amyloid polyneuropathy associated with transthyretin alanine 60 variant.},
  author={Prayman T. Sattianayagam and Angelika F G Hahn and Carol J. Whelan and Simon D. J. Gibbs and Jennifer Helen Pinney and Arie J. Stangou and Dorota M. Rowczenio and Peter W Pflugfelder and Z. D. Fox and Helen Lachmann and Ashutosh D Wechalekar and Philip N. Hawkins and Julian D. Gillmore},
  journal={European heart journal},
  year={2012},
  volume={33 9},
  pages={1120-7}
}
AIMS Familial amyloid polyneuropathy (FAP) is a dominantly inherited multi-system disease associated with transthyretin (TTR) mutations. Previous series have predominantly described patients with the TTR variant Val30Met (V30M), which is the most prevalent cause of FAP worldwide. Here, we report the dominant cardiac phenotype and outcome of FAP associated with TTR Thr60Ala (T60A), the most common UK variant. METHODS AND RESULTS Sixty consecutive patients with FAP associated with TTR T60A (FAP… CONTINUE READING

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