@article{10902/30196,
year = {2023},
url = {https://hdl.handle.net/10902/30196},
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},
publisher = {MPDI},
publisher = {Genes, 2023, 14(4), 840},
title = {Description of a cohort with a new truncating MYBPC3 variant for hypertrophic cardiomyopathy in northern Spain},
author = {Fernández Suárez, Natalia and Viadero Ubierna, María Teresa and Garde Basas, Jesús and Onecha de la Fuente, María Esther and Amigo Lanza, María Teresa and Martin Gorria, Gonzalo and Rivas Pérez, Adrián and Ruiz Guerrero, Luis and González-Lamuño Leguina, Domingo},
}