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 Detalle_Publicacion

Description of a cohort with a new truncating MYBPC3 variant for hypertrophic cardiomyopathy in northern Spain

Abstract: Background: The pathogenicity of the different genetic variants causing hypertrophic cardiomyopathy (HCM) and the genotype/phenotype correlations are difficult to assess in clinical practice, as most mutations are unique or identified in non-informative families. Pathogenic variants in the sarcomeric gene MYBPC3 inherited with an autosomal dominant pattern, whereas incomplete and age-dependent penetrance are the most common causes of HCM. Methods: We describe the clinical characteristics of a new truncating MYBPC3 variant, p.Val931Glyfs*120, in 75 subjects from 18 different families from northern Spain with the p.Val931Glyfs*120 variant. Results: Our cohort allows us to estimate the penetrance and prognosis of this variant. The penetrance of the disease increases with age, whereas 50% of males in our sample developed HCM by the age of 36 years old, and 50% of women developed the disease by the time they reached 48 years of age (p = 0.104). Men have more documented arrhythmias with potential risk of sudden death (p = 0.018), requiring implantation of cardioverter defibrillators (p = 0.024). Semi-professional/competitive sport among males is related to earlier onset of HCM (p = 0.004). Conclusions: The p.Val931Glyfs*120 truncating variant in MYBPC3 is associated with a moderate phenotype of HCM, with a high penetrance, onset in middle age, and a worse outcome in males due to higher risk of sudden death due to arrhythmias.

 Autoría: Fernández Suárez N., Viadero Ubierna M.T., Garde Basas J., Onecha de la Fuente M.E., Amigo Lanza M.T., Martin Gorria G., Rivas Pérez A., Ruiz Guerrero L., González-Lamuño D.,

 Fuente: Genes, 2023, 14(4), 840

Editorial: MPDI

 Año de publicación: 2023

Nº de páginas: 16

Tipo de publicación: Artículo de Revista

 DOI: 10.3390/genes14040840

ISSN: 2073-4425

Url de la publicación: https://doi.org/ 10.3390/genes14040840

Autores/as

FERNÁNDEZ SUÁREZ, NATALIA

VIADERO UBIERNA, MARÍA TERESA

GARDE BASAS, JESÚS

ONECHA DE LA FUENTE, MARÍA ESTHER

MARIA TERESA AMIGO LANZA

MARTIN GORRIA, GONZALO

RIVAS PÉREZ, ADRIÁN

RUIZ GUERRERO, LUIS