Korean Circ J.  2023 May;53(5):347-349. 10.4070/kcj.2022.0356.

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

Affiliations
  • 1Division of Cardiology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
  • 2Division of Hemato-Oncology, Department of Medicine, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea
  • 3Department of Pathology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea


Figure

  • Figure 1 An overview of clinical presentation in Met13dup hereditary transthyretin amyloidosis patients.(This figure includes images of case 1.)


Reference

1. Rapezzi C, Quarta CC, Riva L, et al. Transthyretin-related amyloidoses and the heart: a clinical overview. Nat Rev Cardiol. 2010; 7:398–408. PMID: 20479782.
Article
2. Kim D, Choi JO, Kim K, Kim SJ, Jeon ES. Untangling amyloidosis: recent advances in cardiac amyloidosis. Int J Heart Fail. 2020; 2:231–239. PMID: 36262171.
Article
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; 68:161–172. PMID: 27386769.
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. PMID: 30938420.
Article
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; 133:282–290. PMID: 26660282.
Article
Full Text Links
  • KCJ
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr