Key result
MYBPC3 and MYH7 mutations linked to higher energetic cost of contraction and reduced myocardial efficiency.
Why the study?
Do MYBPC3 and MYH7 mutations increase the energetic cost of contraction in hypertrophic cardiomyopathy compared to mutation-negative patients and healthy controls?
Population
26 manifest HCM patients for in vitro study, and 28 pre-hypertrophic mutation carriers plus 14 healthy…
Comparison
Presence of MYBPC3 or MYH7 mutations vs Sarcomere mutation-negative HCM patients and…
Design
Cross-sectional
Authors
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May support metabolic targeting in sarcomere-positive HCM; extends energy depletion hypothesis but requires prospective validation.
Observational (n=68)
Do MYBPC3 and MYH7 mutations increase the energetic cost of contraction in hypertrophic cardiomyopathy compared to mutation-negative patients and healthy controls?
Sarcomere mutations in MYBPC3 and MYH7 perturb the energetic cost of cardiac contraction, suggesting early metabolic treatment may be beneficial, especially in MYH7 mutation carriers.
Witjas‐Paalberends et al. (2014) conducted an observational in Hypertrophic cardiomyopathy (n=68). MYBPC3 and MYH7 mutations vs. Sarcomere mutation-negative HCM and healthy controls was evaluated on Energetic cost of contraction (tension cost in vitro and myocardial external efficiency in vivo). Sarcomere mutations in MYBPC3 and MYH7 significantly increased the energetic cost of cardiac contraction and reduced myocardial external efficiency compared to controls.
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