Evidence map›Paper›PMID 38432972›Full record

ArticleInternal medicine (Tokyo, Japan)2024

Cardiomyopathy with an LMNA Genetic Variant Affecting Three Consecutive Generations: A Case Series.

Naoko Ogawa, Hidekazu Kondo, Yumi Ishii, Kazuki Mitarai, Kumiko Akiyoshi, Hiroko Niwa, Koichi Kato, Minoru Horie, Seiko Ohno, Naohiko Takahashi

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Internal medicine (Tokyo, Japan), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.2field-weighted citation impact, top 21% 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

4 citing papers in PubMed, 3 citations in OpenAlex.

  1. Article
  2. How to Screen and Manage Suspected Laminopathy.Internal medicine (Tokyo, Japan) · 2025
    Article
  3. Article
  4. Article
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

10 authors at 4 institutions in 1 country.

Naoko OgawaDepartment of Cardiology and Clinical Examination, Faculty of Medicine, Oita University, Japan.
Hidekazu KondoDepartment of Cardiology and Clinical Examination, Faculty of Medicine, Oita University, Japan.
Yumi IshiiDepartment of Cardiology and Clinical Examination, Faculty of Medicine, Oita University, Japan.
Kazuki MitaraiDepartment of Cardiology and Clinical Examination, Faculty of Medicine, Oita University, Japan.
Kumiko AkiyoshiDepartment of Cardiology and Clinical Examination, Faculty of Medicine, Oita University, Japan.
Hiroko NiwaDepartment of Cardiology, Tsukumi Hospital, Japan.
Koichi KatoDepartment of Cardiovascular Medicine, Shiga University of Medical Science, Japan.
Minoru HorieDepartment of Cardiovascular Medicine, Shiga University of Medical Science, Japan.
Seiko OhnoDepartment of Bioscience and Genetics, National Cerebral and Cardiovascular Center, Japan.
Naohiko TakahashiDepartment of Cardiology and Clinical Examination, Faculty of Medicine, Oita University, Japan.
Oita University · JPShiga University of Medical Science · JPAzumi Hospital · JPNational Cerebral and Cardiovascular Center · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We report the case of a family afflicted with cardiac laminopathy who showed atrial fibrillation (AF) and complete atrioventricular block across three generations. Implantable cardioverter defibrillators (ICDs) implantation, or cardiac resynchronization therapy (CRT) were delivered to the three patients (proband; 61 years old, proband's mother: 84 years old, and proband's daughter; 38 years old) to prevent sudden cardiac death or suppress heart failure progression. A novel frameshift mutation (LMNA Exon 9: c.1550dupA;p. N518Efs*34) was found in all three cases through genetic testing, and this mutation may potentially result in the relatively late appearance of a phenotype of left ventricular systolic dysfunction.

Indexed as

Defibrillators, ImplantableFrameshift MutationLamin Type APedigreeAdultAged, 80 and overAtrial FibrillationAtrioventricular BlockCardiac Resynchronization TherapyCardiomyopathiesFemaleHumansMiddle AgedLamin Type ALMNA protein, humanatrial fibrillationatrioventricular blockimplantable cardioverter defibrillatorLMNA cardiomyopathysudden cardiac death

Identifiers

PMID38432972
PMCPMC11473272
OpenAlexW4392442958

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

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.