Why the study?
Hypertrophic cardiomyopathy is caused by mutations in sarcomeric genes, but a pathomechanism common to all mutations remains elusive.
Design
Review
Authors
Loading...
Contractile imbalance hypothesis in HCM warrants mechanistic validation; leaves open a unifying pathomechanism and should not yet change practice.
This review proposes that stochastic, burst-like transcription of mutant alleles in HCM causes cell-to-cell contractile imbalance, potentially driving myocardial disarray, hypertrophy, and fibrosis.
Montag et al. (2020) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: