Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis
This study identified inflammatory biomarkers upregulated in symptomatic V30M carriers and phenotypic/echocardiographic traits associated with V122I, representing comorbidities of hATTR pathology. Such markers can provide the basis for future improvements in diagnostic regimes to deliver early therapies.
Authors
- Sameer Kini (ORCID: https://orcid.org/0000-0002-2659-6549)
- Parasuram Krishnamoorthy (ORCID: https://orcid.org/0000-0002-4560-7346)
- Son Q. Duong (ORCID: https://orcid.org/0000-0001-7657-9520)
- Jagat Narula
- Girish N. Nadkarni (ORCID: https://orcid.org/0000-0001-6319-4314)
- Ha My T. Vy (ORCID: https://orcid.org/0000-0002-5117-3740)
- Manickam Subramanian (ORCID: https://orcid.org/0000-0001-8277-9975)
- Ghislain Rocheleau (ORCID: https://orcid.org/0000-0002-9989-7553)
- Ron Do (ORCID: https://orcid.org/0000-0002-3144-3627)
Institutions
- Mount Sinai Health System (US)
- Washington University in St. Louis (US)
- Mount Sinai Hospital (US)
- Scarsdale Public Schools (US)
- Icahn School of Medicine at Mount Sinai (US)
Publication Details
- Journal
- IJC Heart & Vasculature
- Published
- 2025-04-15
- DOI
- https://doi.org/10.1016/j.ijcha.2025.101663
- Primary Topic
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institutes of Health