Evidence map›Paper›PMID 41516100›Full record

ArticleInternational journal of molecular sciences2025

Hypertrophic Cardiomyopathy Genotype-Phenotype Analysis in Lithuanian Single-Center Cohort.

Marius Šukys, Eglė Ereminienė, Kristina Aleknavičienė, Rimvydas Jonikas, Eglė Tamulėnaitė-Stuokė, Joana Ažukaitė, Rasa Ugenskienė

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing 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

2 citing papers in PubMed.

  1. Article
  2. 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

7 authors.

Marius ŠukysDepartment of Genetics and Molecular Medicine, Medical Academy, Lithuanian University of Health Sciences, 50161 Kaunas, Lithuania.ORCID 0000-0002-2432-0223
Eglė EreminienėDepartment of Cardiology, Medical Academy, Lithuanian University of Health Sciences, 50161 Kaunas, Lithuania.
Kristina AleknavičienėDepartment of Genetics and Molecular Medicine, Medical Academy, Lithuanian University of Health Sciences, 50161 Kaunas, Lithuania.ORCID 0009-0007-8341-3781
Rimvydas JonikasDepartment of Genetics and Molecular Medicine, Medical Academy, Lithuanian University of Health Sciences, 50161 Kaunas, Lithuania.
Eglė Tamulėnaitė-StuokėDepartment of Cardiology, Medical Academy, Lithuanian University of Health Sciences, 50161 Kaunas, Lithuania.
Joana AžukaitėDepartment of Cardiology, Medical Academy, Lithuanian University of Health Sciences, 50161 Kaunas, Lithuania.
Rasa UgenskienėDepartment of Genetics and Molecular Medicine, Medical Academy, Lithuanian University of Health Sciences, 50161 Kaunas, Lithuania.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypertrophic cardiomyopathies (HCMs) are among the most common genetic disorders; however, they might be underdiagnosed. Sequencing core sarcomere gene panels remain the main diagnostic tool. We present the results of HCM genetic testing performed at Lithuania's tertiary care center. All patients with diagnosed or clinically suspected HCM underwent next-generation panel sequencing. Of 204 patients, 34 (16.7%) received a genetic diagnosis. The most commonly affected genes were

Indexed as

Cardiomyopathy, HypertrophicCarrier ProteinsGenetic Association StudiesAdolescentAdultCardiac MyosinsCohort StudiesFemaleGenetic TestingGenotypeHigh-Throughput Nucleotide SequencingHumansLithuaniaMaleMiddle AgedMutationCardiac MyosinsCarrier ProteinsMYH7 protein, humanMyosin Binding Protein CMyosin Heavy ChainsProtein Tyrosine Phosphatase, Non-Receptor Type 11diagnostic yieldgenetic testinghypertrophic cardiomyopathy

Identifiers

PMID41516100
PMCPMC12785989

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.