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July 5, 2026Open Access

Gene-negative HCM features two distinct cardiomyocyte trajectories and altered extracellular matrix signaling.

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Population

Septal myectomy samples from patients with gene-negative hypertrophic cardiomyopathy and non-diseased controls

Comparison

Single-nucleus RNA sequencing and integration… vs Non-diseased controls

Design

Preclinical

Key result

Gene-negative hypertrophic cardiomyopathy is characterized by two distinct cardiomyocyte trajectories (remodeling-associated CM7 and functional CM5) and an altered extracellular matrix signaling environment enriched for ITGA9-β1 interactions.

Authors

QNQuynh Nguyen

Discussion

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Overview

Highlights potential molecular heterogeneity in gene-negative HCM; leaves open therapeutic relevance pending validation.

Key Points

  • This research aims to uncover the molecular mechanisms underlying gene-negative hypertrophic cardiomyopathy (HCM) using advanced transcriptomic analysis.
  • Performed single-nucleus RNA sequencing on septal myectomy samples and controls.
  • Integrated transcriptomic data with clinical and imaging profiles.
  • Conducted pseudotime analysis to study cardiomyocyte states.
  • Identified 25 distinct cardiac cell populations, including two primary cardiomyocyte states (CM7 and CM5).
  • CM7 demonstrated increased signaling for growth and energy metabolism, correlating with disease severity, particularly left ventricular wall thickness.
  • CM5 was associated with decreased contractility and diastolic dysfunction, indicating a distinct functional state.

Study Design

Type

Observational

Multicenter

No

Structured PICO

P
Population
Patients with gene-negative hypertrophic cardiomyopathy undergoing septal myectomy and non-diseased donor controls evaluated for transcriptomic remodeling.
E
Exposure
Single-nucleus RNA sequencing and integration with clinical and imaging profiles
C
Comparator
Non-diseased controls
O
Outcome
Transcriptional programs and altered extracellular matrix (ECM) signaling microenvironmentsurrogate

Single-nucleus RNA sequencing reveals that gene-negative hypertrophic cardiomyopathy is a biologically distinct remodeling phenotype driven by specific cardiomyocyte states and altered extracellular matrix signaling.

Limitations

  • Specific limitations are not detailed in the provided excerpt

Cite This Study

Quynh Nguyen (2026) conducted an observational in Gene-negative hypertrophic cardiomyopathy. Gene-negative hypertrophic cardiomyopathy vs. Non-diseased controls was evaluated on Transcriptomic remodeling and cardiomyocyte trajectories. Gene-negative hypertrophic cardiomyopathy is characterized by two distinct cardiomyocyte trajectories (remodeling-associated CM7 and functional CM5) and an altered extracellular matrix signaling environment enriched for ITGA9-β1 interactions.

synapsesocial.com/papers/6a49f6c9f5d1d45b28800fffhttps://doi.org/10.14288/1.0452853
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