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Author

R. Barriales-Villa

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Open access Sep 2026

Hypertrophic cardiomyopathy: a genome-wide association meta-analysis and polygenic risk score.

BACKGROUND Hypertrophic cardiomyopathy (HCM) is a heritable trait with marked variability in expression and outcomes. Our aims were to discover new genetic loci associated with HCM and to test the effect of a new polygenic risk score (PRS) on incidence, phenotype and outcomes stratified by genotype status. METHODS A...

Luis R. Lopes, Nay Aung, S. van Duijvenboden et al. · 0 citations
Sep 2026

Spanish founder variant in MYBPC3: implications of diagnostic criteria, clinical phenotype, and prognosis.

INTRODUCTION AND OBJECTIVES MYBPC3 is the most frequently mutated gene in hypertrophic cardiomyopathy (HCM). This study presents the clinical phenotype of a founder variant in MYBPC3, p.Arg891Alafs*160, present in 47 families from southern Spain, and compares it with other described founder truncating variants in MYBPC...

Angel Júdez-Serrano, Jesús Wagih-Gómez, Serena Munteanu et al. · 0 citations

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