Why the study?
Do mutations in myofilament-encoding genes alter the expression and localization of myofilament proteins in left ventricular tissue of patients with HCM?
Population
47 patients with hypertrophic cardiomyopathy (HCM) providing frozen surgical myectomy specimens
Comparison
Genotyping for mutations involving 8… vs Healthy heart tissue
Design
Cross-sectional
Authors
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Supports mutation-specific myofilament changes in HCM; hypothesis-generating for genotype-driven mechanisms but should not yet change practice.
Do mutations in myofilament-encoding genes alter the expression and localization of myofilament proteins in left ventricular tissue of patients with HCM?
Increased myofilament protein levels and distinct localization patterns in HCM patients with MYBPC3 or MYH7 mutations suggest a poison peptide mechanism that varies by genetic subgroup.
Theis et al. (2009) studied this question.
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