Key result
Genetic testing and single-cell multiomics are advancing the understanding of the molecular pathogenesis of dilated and hypertrophic cardiomyopathy, paving the way for precision medicine.
Integration of genome-wide genetic research and single-cell molecular profiling is crucial for accurate disease risk assessment and detailed stratification of dilated and hypertrophic cardiomyopathy.
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May refine cardiomyopathy risk stratification; leaves open whether multiomics-guided therapy improves outcomes.
Cardiomyopathy develops through an interaction of genetic and environmental factors. The clinical manifestations of both dilated cardiomyopathy and hypertrophic cardiomyopathy are diverse, but genetic testing defines the causative genes in about half of cases and can predict clinical prognosis. It has become clear that cardiomyopathy is caused not only by single rare variants but also by combinations of multiple common variants, and genome-wide genetic research is important for accurate disease risk assessment. Single-cell analysis research aimed at understanding the pathophysiology of cardiomyopathy is progressing rapidly, and it is expected that genomic analysis and single-cell molecular profiling will be combined to contribute to more detailed stratification of cardiomyopathy.
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Nomura et al. (2023) conducted a review in Dilated and hypertrophic cardiomyopathy. Precision and genomic medicine was evaluated. Genetic testing and single-cell multiomics are advancing the understanding of the molecular pathogenesis of dilated and hypertrophic cardiomyopathy, paving the way for precision medicine.
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