Single-cell and spatial multi-omics profiling of human septal myectomy tissue redefines hypertrophic cardiomyopathy as a complex, multicellular disease rather than a purely sarcomeric disorder.
Single-cell and spatial multi-omics profiling of human septal myectomy tissue provides novel insights into the multicellular mechanisms of obstructive HCM, informing future precision medicine strategies.
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.
Nguyen et al. (2026) conducted a review in Obstructive Hypertrophic Cardiomyopathy. Single-cell and spatial multi-omics profiling was evaluated. Single-cell and spatial multi-omics profiling of human septal myectomy tissue redefines hypertrophic cardiomyopathy as a complex, multicellular disease rather than a purely sarcomeric disorder.