Abstract Or101: Physiological Stress and Cardiomyocyte Cycling Drive Hypertrophic Cardiomyopathy with MYBPC3 truncation mutation

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Mouse model reveals how MYBPC3 mutations lead to hypertrophic cardiomyopathy, suggesting stress could exacerbate symptoms.

Homozygous MYBPC3 mutation significantly increases heart mass and reduces ejection fraction by eight weeks.
Mice with the mutation show increased fibrosis and evidence of cell cycling, indicating a severe HCM phenotype.
Physiological stress from pregnancy triggers declines in heart function, linking stress to disease severity in HCM.
The study highlights regulatory pathways that may be targeted for therapeutic interventions in hypertrophic cardiomyopathy.

Pavelec et al. (2025) studied this question.

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