Recent advances in omics-based research of mitral valve disease

Q: What is the clinical evidence from this study?

Study design: Review. Population: Mitral valve disease. Intervention: Omics technologies.

Q: What does this research mean for the field?

Omics technologies, including genomics, transcriptomics, and proteomics, have significantly advanced the understanding of the complex molecular mechanisms underlying mitral valve disease and provide a foundation for developing novel diagnostic markers and targeted therapies. Novelty: ClaimNovelty.SYNTHESIS. Consensus alignment: ConsensusAlignment.NEUTRAL.

Shilin Jin; S T Wu; Di Zhang; Yantao Luo; Nabila Bouatia-Naji; Mengyao Yu

doi:10.3389/fcvm.2026.1789634

May 15, 2026Frontiers in Cardiovascular MedicineOpen Access

Recent advances in omics-based research of mitral valve disease

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Key result

Multi-omics links extracellular matrix remodeling, cytoskeletal organization, and TGF-beta signaling to mitral valve disease pathogenesis.

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Why the study?

Mitral valve disease has a complex pathological mechanism, and recent advances in omics approaches have deepened understanding of its molecular basis, warranting a systematic review of the literature.

Key Points

To synthesize the scientific literature from the past decade on omics technologies applied to mitral valve disease, particularly mitral valve prolapse and myxomatous mitral valve disease, to identify diagnostic markers and therapeutic targets.
Systematically reviewed literature from the past decade evaluating high-throughput genomics, epigenomics, transcriptomics, proteomics, metabolomics, and multi-omics data in mitral valve disease.
Categorized molecular evidence across structural disease subtypes, including mitral valve prolapse, Barlow's disease, and fibroelastic deficiency.
Genome-wide DNA methylation analysis identified 584 differentially methylated promoters between non-diseased human aortic and mitral valves, enriched in WNT, Integrin, TGF-β, and NOTCH pathways.
Open chromatin profiling showed that the GWAS-identified risk gene TNS1 is epigenetically regulated, with regulatory region editing significantly altering its expression and cell behavior.
Non-coding RNA profiling revealed downregulation of miR-409-3p and miR-148b-3p in secondary mitral regurgitation, alongside distinct microRNA signatures (miR-500, miR-3174, and miR-17) distinguishing Barlow's disease from fibroelastic deficiency.

Structured PICO

P

Population

Patients with mitral valve disease (MVD), particularly mitral valve prolapse (MVP) and myxomatous mitral valve disease (MMVD)

I

Intervention

Omics approaches (genomics, epigenomics, transcriptomics, proteomics, metabolomics and multi-omics integration)

This review highlights how multi-omics approaches are uncovering the complex pathological mechanisms of mitral valve disease to guide future diagnostic and therapeutic strategies.

Limitations

Most GWAS are predominantly based on European ancestry populations, limiting generalizability
Modest sample sizes in earlier studies may reduce statistical power
GWAS are less effective at capturing rare variants and do not directly establish causal mechanisms
Current epigenomic investigations are constrained by relatively small sample sizes and limited availability of human mitral valve tissues
Most studies are cross-sectional in nature, lacking temporal resolution to capture dynamic epigenetic changes
Many transcriptomic analyses rely on end-stage surgical samples, limiting relevance to early disease stages
Metabolic profiles are highly sensitive to systemic factors such as comorbidities, diet, and medication use

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Implication

Supports prioritization of ECM and TGF-β pathways for investigation; leaves open clinical translation in mitral valve disease.

Abstract

Mitral valve disease (MVD), particularly mitral valve prolapse (MVP), is a common heart valve condition affecting millions of people worldwide. Its pathological mechanism is complex, involving multiple factors such as extracellular matrix remodeling, inflammatory responses, and genetic susceptibility. In recent years, with the development of high-throughput sequencing and analysis technologies, omics approaches including genomics, epigenomics, transcriptomics, proteomics, metabolomics and multi-omics integration have been widely used in MVD research. These technologies have greatly deepened our understanding of the molecular basis of the disease. This review systematically organizes the scientific literature from the past decade on the use of omics technologies to study mitral valve disease, especially MVP and myxomatous mitral valve disease (MMVD). We classify the findings into genomics, epigenomics, transcriptomics, proteomics, metabolomics and multi-omics analysis. We summarize the core discoveries in each area and discuss future research directions, with the goal to provide a theoretical basis for developing new diagnostic markers and targeted therapeutic strategies.

Discussion

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Cite This Study

Jin et al. (2026) conducted a review in Mitral valve disease. Omics technologies was evaluated. Multi-omics approaches have systematically revealed that extracellular matrix remodeling, cytoskeletal organization, and TGF-beta signaling are central to the pathogenesis of mitral valve disease.

synapsesocial.com/papers/6a4ee5b148f2469dcb184175 https://doi.org/10.3389/fcvm.2026.1789634

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Recent advances in omics-based research of mitral valve disease

Figures

Key Points

Structured PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Recent advances in omics-based research of mitral valve disease

Figures

Key Points

Structured PICO

Limitations

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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