Evidence map›Paper›PMID 38548731›Full record

ArticleHuman genome variation2024

Pediatric hypertrophic cardiomyopathy caused by a novel TNNI3 variant.

Natsuko Inagaki, Tomoya Okano, Masatake Kobayashi, Masatsune Fujii, Yoshinao Yazaki, Yasuyoshi Takei, Hisanori Kosuge, Shinji Suzuki, Takeharu Hayashi, Masahiko Kuroda and 1 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genome variation, 2024. 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
0.4field-weighted citation impact, top 39% of its field
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, 1 citations in OpenAlex.

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

11 authors at 2 institutions in 1 country.

Natsuko InagakiDepartment of Cardiology, Tokyo Medical University, Tokyo, Japan. abenatsu@wb3.so-net.ne.jp.ORCID http://orcid.org/0000-0003-4305-1863
Tomoya OkanoDepartment of Cardiology, Tokyo Medical University, Tokyo, Japan.
Masatake KobayashiDepartment of Cardiology, Tokyo Medical University, Tokyo, Japan.
Masatsune FujiiDepartment of Cardiology, Tokyo Medical University, Tokyo, Japan.
Yoshinao YazakiDepartment of Cardiology, Tokyo Medical University, Tokyo, Japan.
Yasuyoshi TakeiDepartment of Cardiology, Tokyo Medical University, Tokyo, Japan.
Hisanori KosugeDepartment of Cardiology, Tokyo Medical University, Tokyo, Japan.
Shinji SuzukiDepartment of Pediatrics and Adolescent Medicine, Tokyo Medical University, Tokyo, Japan.
Takeharu HayashiDepartment of Physiology, Tokai University School of Medicine, Isehara, Japan.ORCID http://orcid.org/0000-0002-4222-9888
Masahiko KurodaDepartment of Molecular Pathology, Tokyo Medical University, Tokyo, Japan.
Kazuhiro SatomiDepartment of Cardiology, Tokyo Medical University, Tokyo, Japan.
Tokyo Medical University · JPTokai University · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

TNNI3 is a gene that causes hypertrophic cardiomyopathy (HCM). A 14-year-old girl who was diagnosed with nonobstructive HCM presented with cardiopulmonary arrest due to ventricular fibrillation. Genetic testing revealed a novel de novo heterozygous missense variant in TNNI3, NM_000363.5:c.583A>T (p.Ile195Phe), which was determined to be the pathogenic variant. The patient exhibited progressive myocardial fibrosis, left ventricular remodeling, and life-threatening arrhythmias. Genetic testing within families is useful for risk stratification in pediatric HCM patients.

Identifiers

PMID38548731
PMCPMC10978967
OpenAlexW4393315647

What OpenQuestion holds

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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.