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September 17, 2025GenesOpen Access

Genotype-Phenotype Relationship in Hypertrophic Cardiomyopathy

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Authors

DŽDovilė ŽebrauskienėESEglė SadauskienėRPRoma Puronaitė

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Overview

Comparative analysis reveals genotype impacts hypertrophic cardiomyopathy phenotype, suggesting implications for patient management.

Key Points

  • Patients with pathogenic variants of hypertrophic cardiomyopathy experience earlier diagnosis and more severe heart conditions.
  • Among 214 individuals studied, 43% had identified pathogenic/likely pathogenic variants with significant differences in imaging thickness.
  • Atrial fibrillation and heart failure were more common in patients with pathogenic variants, indicating more aggressive disease progression.
  • Genotype may influence the initial severity of hypertrophic cardiomyopathy but does not necessarily predict long-term clinical outcomes.

Cite This Study

Žebrauskienė et al. (2025) studied this question.

synapsesocial.com/papers/68d42c58713b0b5dfea6fd3bhttps://doi.org/10.3390/genes16091090
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Also Consider

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

  1. 1Impact of genotype on histopathology and clinical characters in a Chinese cohort with obstructive hypertrophic cardiomyopathy2026
  2. 2Genetic, Clinical, and Sociodemographic Profile of Individuals with Diagnosis or Family History of Hypertrophic Cardiomyopathy: Insights from a Prospective Cohort2025 · 2 citations
  3. 3Relationship between genotype and clinical phenotype of hypertrophic cardiomyopathy2025
  4. 4Gene positive vs. gene negative clinical and structural outcomes in hypertrophic cardiomyopathy patients: a meta-analysis and systematic review2025
  5. 5Genetic and Gender Influences on Hypertrophic Cardiomyopathy: A Comprehensive Population-based Study of Clinical Outcomes and Implications2025