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A Novel Transthyretin Gene Mutation in Hereditary Transthyretin Amyloidosis: A Case Series of Met13dup Patients

  • Kina Jeon (Division of Cardiology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Darae Kim (Division of Cardiology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Meesoon Park (Division of Cardiology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jin-Oh Choi (Division of Cardiology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Kihyun Kim (Division of Hemato-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Seok Jin Kim (Division of Hemato-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Jung-Sun Kim (Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Eun Seok Jeon (Division of Cardiology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine)
  • Received : 2022.12.28
  • Accepted : 2023.03.21
  • Published : 2023.05.01

Abstract

Keywords

Acknowledgement

This research was supported by a fund (code: 2022-ER0507-00) by Research of Korea Disease Control and Prevention Agency.

References

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  2. Kim D, Choi JO, Kim K, Kim SJ, Jeon ES. Untangling amyloidosis: recent advances in cardiac amyloidosis. Int J Heart Fail 2020;2:231-9.  https://doi.org/10.36628/ijhf.2020.0016
  3. Maurer MS, Hanna M, Grogan M, et al. Genotype and phenotype of transthyretin cardiac amyloidosis: THAOS (Transthyretin Amyloid Outcome Survey). J Am Coll Cardiol 2016;68:161-72.  https://doi.org/10.1016/j.jacc.2016.03.596
  4. Damy T, Kristen AV, Suhr OB, et al. Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS). Eur Heart J 2019;43:391-400.  https://doi.org/10.1093/eurheartj/ehz173
  5. Connors LH, Sam F, Skinner M, et al. Heart failure resulting from age-related cardiac amyloid disease associated with wild-type transthyretin: a prospective, observational cohort study. Circulation 2016;133:282-90. https://doi.org/10.1161/CIRCULATIONAHA.115.018852