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Abstract Purpose of Review Cardiovascular diseases (CVDs) encompass a wide range of conditions affecting the heart and vasculature and remain the leading cause of mortality worldwide. The pathogenesis of CVDs is related to complex molecular, cellular, and systemic interactions, involving dysregulated signaling pathways, inflammatory responses, genetic predispositions, and intercellular communication. Despite significant advancements, the precise mechanisms underlying CVDs remain only partially understood. This review aims to explain how single-cell and single-nucleus transcriptomics facilitate our understanding of CVD pathogenesis. It focuses on their integration with genomic and epigenomic approaches, cellular heterogeneity, intercellular communication, regulatory networks, and genetic associations. Recent Findings Recent applications of single-cell and single-nucleus transcriptomics in cardiovascular research have already revealed significant alterations in cellular composition and gene expression profiles associated with dilated cardiomyopathy (DCM), arrhythmogenic cardiomyopathy (ACM), and hypertrophic cardiomyopathy (HCM). Furthermore, spatial transcriptomic technologies have provided critical insights into human cardiac development, the conduction system, and region-specific molecular changes in myocardial infarction, advancing our understanding of cardiac structure and function. Integrating single-cell transcriptomics with epigenomics further enhances our understanding of cell type- and state-specific regulatory landscapes, which can be validated through single-cell perturbation technologies. Additionally, combining genomic studies with single-cell technologies helps to recover causal relationships between genetic variants, gene expression patterns, and cellular phenotypes. Summary Single-cell and single-nucleus transcriptomics technologies have enhanced our understanding of CVD mechanisms, uncovering cardiac cellular diversity and elucidating key regulatory processes in disease states. With larger datasets, more robust multi-omics integration, and advanced computational frameworks, transcriptome studies at single cell level will significantly enhance the ability to explore disease mechanisms and identify therapeutic targets. Integrating individualized transcriptomes into the medical routine will furthermore facilitate more precise and effective interventions in cardiovascular medicine.
Ji et al. (Mon,) studied this question.