Patient-specific hiPSC-derived cardiomyocytes indicate allelic and contractile imbalance as pathogenic factor in early-stage Hypertrophic Cardiomyopathy.

doi:10.1016/j.yjmcc.2024.11.007

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Article

Patient-specific hiPSC-derived cardiomyocytes indicate allelic and contractile imbalance as pathogenic factor in early-stage Hypertrophic Cardiomyopathy.

Journal of molecular and cellular cardiology - 1 Jan 2025

Weber Natalie, Montag Judith, Kowalski Kathrin, Iorga Bogdan, de la Roche Jeanne, Holler Tim, Wojciechowski Daniel, Wendland Meike, Radocaj Ante, Mayer Anne-Kathrin, Brunkhorst Anja, Osten Felix, Burkart Valentin, Piep Birgit, Bodenschatz Alea, Gibron Pia, Schwanke Kristin, Franke Annika, Thiemann Stefan, Koroleva Anastasia, Pfanne Angelika, Konsanke Maike, Fiedler Jan, Hegermann Jan, Wrede Christoph, Mühlfeld Christian, Chichkov Boris, Fischer Martin, Thum Thomas, Francino Antonio, Martin Ulrich, Meißner Joachim, Zweigerdt Robert, Kraft Theresia

Abstract excerpt

Hypertrophic Cardiomyopathy (HCM) is often caused by heterozygous mutations in β-myosin heavy chain (MYH7, β-MyHC). In addition to hyper- or hypocontractile effects of HCM-mutations, heterogeneity in contractile function (contractile imbalance) among individual cardiomyocytes was observed in end-stage HCM-myocardium. Contractile imbalance might be induced by burst-like transcription, leading to unequal fractions...

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Identifiers

PMID: 39647438
DOI: 10.1016/j.yjmcc.2024.11.007

Genes

MYH7

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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