Why the study?
Phenotypic heterogeneity in HCM suggests that novel causative genes or genetic modifiers likely exist beyond common sarcomere mutations.
Population
28 HCM patients and 9 healthy controls
Comparison
HCM patients vs healthy controls
Design
Case-control study evaluating myocardial RNA-seq data
Authors
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No practice change in HCM; leaves open multi-omic contributions to pathogenesis.
Myocardial RNA-seq reveals that HCM is a complex disease driven by multiple protein-coding gene mutations, non-coding RNA modulation, and gene network perturbations.
Gao et al. (2020) studied this question.