Single-Cell Multi-Omics Profiling of Human Septal Myectomy Tissue: Toward Precision Medicine in Obstructive Hypertrophic Cardiomyopathy

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Authors: Quynh Nguyen, Jeremy Parker, Amrit Singh, Ying Wang, Jamil G. Bashir, Zachary Laksman
Cited by: 0
References: 64

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.

Fields of Study & Subjects

Cardiomyopathy and Myosin Studies Single-cell and spatial transcriptomics Congenital heart defects research

Publication details

Journal / source
Journal of Personalized Medicine
Volume
16
Issue
2
Pages
88–88
Publication date
4 February 2026
Language
EN