Evidence map›Paper›PMID 39774683›Full record

SynthesisJournal of molecular medicine (Berlin, Germany)2025

The molecular and cellular landscape of hypertrophic cardiomyopathy phenotypes: transition from obstructive to end-stage heart failure.

Jude Taylor, Sean Lal, Filip Braet, Craig S McLachlan, Amy Li

Abstract readMeta-Analysis
PubMed Publisher
In one paragraph

Synthesis in Journal of molecular medicine (Berlin, Germany), 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. Review
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

5 authors.

Jude TaylorCentre for Healthy Futures, Torrens University Australia, Surry Hills, NSW, 2010, Australia.
Sean LalSchool of Medical Sciences, Faculty of Medicine and Health, University of Sydney, Sydney, NSW, 2006, Australia.
Filip BraetSchool of Medical Sciences (Molecular and Cellular Biomedicine), University of Sydney, Sydney, NSW, 2006, Australia.
Craig S McLachlanCentre for Healthy Futures, Torrens University Australia, Surry Hills, NSW, 2010, Australia.
Amy LiCentre for Healthy Futures, Torrens University Australia, Surry Hills, NSW, 2010, Australia. amy.li@torrens.edu.au.ORCID http://orcid.org/0000-0001-5413-3771

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hypertrophic cardiomyopathy (HCM) is a myocardial disorder which commonly presents as an obstructive or end-stage disease. This study aims to investigate the transcriptomic changes related to cardiac cell-specific expression profiles that underpin the molecular transition between the HCM phenotypes. This study utilizes bioinformatics meta-analysis to integrate independent datasets to generate a comprehensive gene expression profile of obstructive HCM and end-stage HCM phenotypes compared to donor hearts. Gene set enrichment and cellular deconvolution were applied to identify ontologies and pathways related to each phenotype and to enumerate cell abundances. The intersection between cell lineage genes and meta-genes was identified to explore the cellular contribution to the phenotypic molecular signatures. Meta-analysis revealed, enhanced muscle function and myocardial remodeling, alongside impaired immune and inflammatory processes in obstructive HCM. In contrast, enriched tissue matrix remodeling pathways and altered metabolic and signaling cascades were identified in end-stage HCM, indicating a shift towards cellular dysfunction and loss of homeostasis. These molecular profiles were associated with an altered cellular landscape, with increased cardiomyocytes and lower immune cell populations in obstructive samples but increased fibroblasts and smooth muscle cells in end-stage HCM, implicating extensive tissue remodeling. This study provides novel insights into the cellular contributions of contractile, immune, homeostatic, and vascular alterations underpinning each of the HCM phenotypes. KEY MESSAGES: HCM phenotypes are characterized by distinct molecular and cellular profiles. Obstructive HCM has an enriched contractile profile underpinned by an expanded cardiomyocyte population. End-stage HCM shifts the cellular profile towards extracellular and vascular remodeling.

Indexed as

Cardiomyopathy, HypertrophicHeart FailureComputational BiologyGene Expression ProfilingHumansMyocardiumMyocytes, CardiacPhenotypeTranscriptomeCellular gene expressionEnd-stage heart failureHypertrophic cardiomyopathyMeta-analysisObstructive diseasePhenotypic molecular signature

Identifiers

PMID39774683

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.