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Genetic mutations, pathology, and single-nucleus transcriptomic landscape in LVHT patients reveal differential

Yifan Wang1, Weiteng Wang1, Han Mo1

  • 1Beijing Key Laboratory of Preclinical Research & Evaluation for Cardiovascular Implant Materials, Animal Experimental Centre, National Centre for Cardiovascular Disease, Department of Cardiac Surgery, Fuwai Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology
|December 14, 2025
PubMed

Insights

Left ventricular hypertrabeculation/non-compaction (LVHT) progression to heart transplantation is linked to specific transcriptomic and pathological features. The Notch pathway molecule MAML3 may indicate disease advancement in LVHT patients.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Left ventricular hypertrabeculation/non-compaction (LVHT) presents unique cardiac morphology but variable clinical outcomes.
  • Factors driving LVHT progression to heart transplantation are not well understood.
  • No prior studies linked LVHT transcriptomic or pathological features to transplantation progression.

Purpose of the Study:

  • To investigate the transcriptomic and pathological features of LVHT.
  • To determine factors influencing LVHT progression to heart transplantation.
  • To identify potential biomarkers for disease progression.

Main Methods:

  • Whole-exome sequencing in 74 LVHT patients.
  • Single-nucleus RNA sequencing on explanted LVHT hearts.
  • Histopathological analysis of myocardial composition, fibrosis, and non-compaction.

Main Results:

  • Genetic variants found in 46% of patients, not linked to transplantation.
  • Transcriptional profiles of compacted and non-compacted LVHT layers were similar.
  • Notch signaling was enriched; MAML3 upregulation correlated with faster progression to transplantation.
  • Fibrosis and non-compaction distribution linked to cardiac function and transplant outcomes.

Conclusions:

  • LVHT exhibits distinct transcriptomic and pathological features impacting heart transplantation progression rates.
  • The Notch pathway molecule MAML3 shows potential as a marker for LVHT disease progression.
Abstract

Keywords:
Heart failureHeart transplantationLeft ventricular hypertrabeculationMAML3Single-nucleus RNA sequencing

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