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Single-Cell Multi-Omics Profiling of Human Septal Myectomy Tissue: Toward Precision Medicine in Obstructive
Quynh Nguyen1,2,3,4, Jeremy Parker2,3,4,5, Amrit Singh3,4,6
1Division of Cardiac Surgery, Department of Surgery, University of British Columbia, Vancouver, BC V6Z 1Y6, Canada.
Insights
Hypertrophic cardiomyopathy (HCM) is a complex heart disease. Single-cell and spatial multi-omics reveal new insights into its cellular mechanisms, moving beyond solely genetic causes for potential precision medicine.
Area of Science:
- Cardiovascular Research
- Genomics and Molecular Biology
- Translational Medicine
Background:
- Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder often linked to sarcomeric genes, but many patients are genotype-negative.
- Current understanding of HCM pathogenesis is limited by traditional bulk analyses, hindering insight into cellular and molecular disease drivers.
- Advanced omics technologies are crucial for dissecting the complex cellular landscape of HCM.
Purpose of the Study:
- To review single-cell and spatial transcriptomic studies of human septal myectomy tissue in HCM.
- To outline key findings and limitations of current multi-omics approaches in HCM research.
- To discuss the potential of these data for developing precision medicine strategies in obstructive HCM.
Main Methods:
- Single-cell transcriptomics
- Spatial multi-omics
- Analysis of human septal myectomy tissue
Main Results:
- HCM is increasingly recognized as a multicellular disease, not solely a sarcomeric disorder.
- Multi-omics reveal detailed cell type-specific transcriptional programs and signaling pathways in the myocardium.
- These technologies provide insights into tissue remodeling processes driving HCM progression.
Conclusions:
- Single-cell and spatial transcriptomics are redefining HCM as a complex, multicellular condition.
- These advanced techniques offer a deeper understanding of disease mechanisms beyond sarcomeric gene variants.
- Data from these studies may guide the development of targeted precision medicine for obstructive HCM.
Abstract:
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder most commonly caused by pathogenic variants in sarcomeric genes, yet many patients remain genotype-negative and the mechanisms linking genetic alterations to disease pathology are not fully understood. Traditional bulk analyses have provided limited insight into the cellular and molecular changes that drive disease progression. Recent advances in single-cell and spatial multi-omics technologies now allow detailed characterization of cell type-specific transcriptional programs, signaling pathways, and tissue remodeling within the human myocardium. These approaches have begun to redefine HCM as a complex, multicellular disease rather than a purely sarcomeric disorder. This review summarizes current single-cell and spatial transcriptomic studies of human septal myectomy tissue, outlines their major findings and limitations, and discusses how these data may inform the development of precision medicine strategies in obstructive HCM.
