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July 21, 2025Journal of Cardiovascular ImagingOpen Access

Genetic insights into hypertrophic cardiomyopathy: pathogenesis, diagnosis, and therapeutic implications

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Authors

ECEui‐Young ChoiHCHyemoon ChungKLKyung‐A Lee

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Overview

Literature review highlights genetic testing outcomes and adverse cardiovascular events in hypertrophic cardiomyopathy, suggesting improved risk management.

Key Points

  • Sarcomeric mutations account for about 60% of familial hypertrophic cardiomyopathy cases, with variable effects on symptoms.
  • Patients with sarcomere-positive HCM are diagnosed 13 years earlier and face nearly double the incidence of cardiovascular events.
  • Genetic testing identifies atypical cases and supports family cascade testing and reproductive choices.
  • Emerging therapies like myosin inhibitors and gene editing hold promise for targeting the mechanisms of hypertrophic cardiomyopathy.

Cite This Study

Choi et al. (2025) studied this question.

synapsesocial.com/papers/689a060ee6551bb0af8cd1c1https://doi.org/10.1186/s44348-025-00055-4
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Hypertrophic Cardiomyopathy: Current Perspectives2025
  2. 2Genetic, Clinical, and Sociodemographic Profile of Individuals with Diagnosis or Family History of Hypertrophic Cardiomyopathy: Insights from a Prospective Cohort2025 · 2 citations
  3. 3INNOVATIVE DIAGNOSTIC TECHNOLOGIES AND TARGETED THERAPEUTICS IN HYPERTROPHIC CARDIOMYOPATHY: IMPLICATIONS FOR PERSONALIZED PATIENT CARE2025
  4. 4Mechanisms and Therapies of Hypertrophic Cardiomyopathy2025
  5. 5Current and emerging medical and surgical therapy in hypertrophic cardiomyopathy2025