Evidence map›Paper›PMID 41440877›Full record

ArticleJournal of cardiovascular development and disease2025

Genetic Spectrum, Clinical Characteristics, and Molecular Pathogenesis of Hypertrophic Cardiomyopathy Requiring Heart Transplantation.

Sofiya Andreeva, Lyubov Korneva, Mariya Marusova, Yulia Sazonova, Alexandra Gudkova, Anna Streltsova, Svetlana Fetisova, Maria Simonenko, Anna Fanta, Andrei Semenov and 8 more

Abstract read
In one paragraph

Article in Journal of cardiovascular development and disease, 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

18 authors.

Sofiya AndreevaAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0000-0001-7306-9525
Lyubov KornevaAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0000-0002-6503-0310
Mariya MarusovaAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0009-0002-6712-2128
Yulia SazonovaAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0000-0002-7825-3513
Alexandra GudkovaAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0000-0003-0156-8821
Anna StreltsovaAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0000-0002-2766-8946
Svetlana FetisovaAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0000-0002-2207-8920
Maria SimonenkoAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0000-0003-3228-1188
Anna FantaAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0009-0008-7553-9138
Andrei SemenovAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0000-0003-0459-4494
Maria BortsovaAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0000-0002-9694-7850
Lubov MitrofanovaAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0000-0003-0735-7822
Olga MoiseevaAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0000-0002-7817-3847
Alexandr BobylevScientific Center of Genetics and Life Sciences, Sirius University of Science and Technology, 354340 Sochi, Russia.ORCID 0000-0002-9477-1214
Lidiya GavrilovaAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.
Ivan VikhlyantsevInstitute of Theoretical and Experimental Biophysics, Russian Academy of Sciences, 142290 Pushchino, Russia.ORCID 0000-0001-6063-6789
Petr FedotovAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0000-0002-7452-1971
Anna KostarevaAlmazov National Medical Research Center, 197341 Saint-Petersburg, Russia.ORCID 0000-0002-9349-6257

Funding

Russian Science Foundation 25-15-00552
6 · The paper itself

Abstract

Hypertrophic cardiomyopathy (HCM) progressing to end-stage heart failure and heart transplantation (HT) is a rare clinical scenario with an insufficiently explored genetic background. In this single-center retrospective cohort study, we aimed to characterize the genetic spectrum, variants of HCM adverse remodeling, and aspects of molecular pathogenesis of this subgroup. The study included 14 patients (9 females), among whom 10 developed a dilated/hypokinetic phenotype and 4 a restrictive phenotype. In 13 patients (93%), at least one pathogenic or likely pathogenic genetic variant was identified. Dilated remodeling/hypokinesis was associated with loss-of-function variants in

Indexed as

adverse remodelingDanon diseasedilated phenotypefilamin Cheart transplantationhypertrophic cardiomyopathynon-sarcomeric genetic variantsrestrictive phenotypetitintruncating variants

Identifiers

PMID41440877
PMCPMC12734256

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.