ORIGINAL RESEARCH article
Front. Cardiovasc. Med.
Sec. General Cardiovascular Medicine
Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1625485
Case Report and Literature Review of Transthyretin Amyloidosis with p.Ser43Asn Mutation Presenting in China
Provisionally accepted
- Shenzhen Longgang Central Hospital, Shenzhen, China
Select one of your emails
You have multiple emails registered with Frontiers:
Notify me on publication
Please enter your email address:
If you already have an account, please login
You don't have a Frontiers account ? You can register here
Background: Familial transthyretin amyloidosis (ATTR) is a rare hereditary disorder marked by abnormal protein fibril deposits that impair multiple organ functions. Although over 130 mutations have been identified, the p.Ser43Asn variant, which has been associated with amyloidosis involving thyroxine-binding globulin (TBG), is scarcely reported in the literature, especially within the Chinese population. Case Presentation: We report a case of a 50-year-old male presenting with recurrent episodes of amaurosis fugax. The patient had a family history of cardiac disease. Auxiliary examinations revealed myocardial hypertrophy, and the electrocardiogram indicated conduction delays and abnormal QRS complexes. Nuclear imaging suggested cardiac amyloidosis, and cardiac MRI indicated non-ischemic cardiomyopathy. Genetic testing identified a c.128G>A (p.Ser43Asn) mutation, and pathological examination confirmed ATTR amyloidosis. Both pathological findings and mass spectrometry analysis supported this diagnosis. Discussion: The p.Ser43Asn variant likely impacts TTR protein dimerization and stability, leading to protein misfolding and amyloid fibril deposition in tissues. Early diagnosis is crucial due to the significant heterogeneity of this condition. Our findings emphasize the importance of increased diagnostic awareness, multidisciplinary collaboration, and regional genetic screening. Comparisons with similar cases reported in the literature highlight the shared clinical presentations and diagnostic challenges. Conclusion: This case adds valuable insight into the clinical manifestations and diagnostic challenges of ATTR amyloidosis with the p.Ser43Asn mutation, particularly in the Chinese population. Future research should aim to develop effective treatment strategies and explore the genetic and environmental factors influencing the phenotypic variability of this rare disorder.
Keywords: p.Ser43Asn Mutation, familial transthyretin amyloidosis, Cardiac amyloidosis, Amaurosis Fugax, Genetic Testing
Received: 09 May 2025; Accepted: 28 Jul 2025.
Copyright: © 2025 Adamkmu, Hong and Zhong. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Qinghua Zhong, Shenzhen Longgang Central Hospital, Shenzhen, China
Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.