Evidence map›Paper›PMID 40276302›Full record

ArticleInternational journal of cardiology. Heart & vasculature2025

Associations between pathophysiological traits and symptom development in retrospective analysis of V30M and V122I transthyretin amyloidosis.

Sameer U Kini, Ha My Thi Vy, Madhav Subramanian, Parasuram M Krishnamoorthy, Son Q Duong, Ghislain Rocheleau, Jagat Narula, Ron Do, Girish N Nadkarni

Abstract read
In one paragraph

Article in International journal of cardiology. Heart & vasculature, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

9 authors.

Sameer U KiniScarsdale High School, Scarsdale, NY, United States of America.
Ha My Thi VyThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.
Madhav SubramanianWashington University School of Medicine, Department of Pathology and Immunology, St. Louis, MO, United States of America.
Parasuram M KrishnamoorthyDepartment of Medicine, Division of Cardiology, Mount Sinai Hospital, New York, NY, United States of America.
Son Q DuongThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.
Ghislain RocheleauThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.
Jagat NarulaMount Sinai Heart, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.
Ron DoThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.
Girish N NadkarniThe Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, United States of America.

Funding

Elucidating hereditary transthyretin-mediated heart failure risk using machine learning, polygenic risk and recall by genotype approaches in African ancestry individualsR01HL155915 · NHLBI · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI DO, RON, NADKARNI, GIRISH NITIN · 2021 to 2024
$3.4M
NHLBI NIH HHS R01 HL155915
6 · The paper itself

Abstract

Background: The Val30Met (V30M) and Val122Ile (V122I) transthyretin ( Methods: In a Portuguese sample of V30M carriers (n = 183), gene profiling identified dysregulated immune markers. Among African Americans (AA) and Hispanic/Latinx Americans (HA) from the Mount Sinai Bio Results: Among V30M profiles, 96 (52.4%) were symptomatic, expressing upregulated neutrophil activity (p < 10 Conclusions: 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.

Indexed as

African AmericanEchocardiogramHeart failureHispanic/Latinx AmericanInflammatory markersPhenome-Wide Association Study (PheWAS)Symptom onset

Identifiers

PMID40276302
PMCPMC12019459

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.