2026-04-27T03:43:14Zhttps://repisalud.isciii.es/rest/oai/request

oai:repisalud.isciii.es:20.500.12105/234412024-10-04T13:22:51Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967

00925njm 22002777a 4500 dc Antoniutti, Guido author Caimi-Martinez, Fiama author Álvarez-Rubio, Jorge author Morlanes-Gracia, Paula author Pons Llinares, Jaume author Rodríguez-Picón, Blanca author Fortuny Frau, Elena author Torres-Juan, Laura author Heine-Suñer, Damián author Ripoll-Vera, Tomás author 2022-02-09 Hypertrophic cardiomyopathy (HCM) is a genetic disease characterised by increased left ventricle (LV) wall thickness caused by mutations in sarcomeric genes. Finding a causal mutation can help to better assess the proband's risk, as it allows the presence of the mutation to be evaluated in relatives and the follow-up to be focused on carriers. We performed an observational study of patients with HCM due to the novel p.Arg652Lys variant in the MYH7 gene. Eight families and 59 patients are described in the follow-up for a median of 63 months, among whom 39 (66%) carry the variant. Twenty-five (64%) of carriers developed HCM. A median maximum LV wall thickness of 16.5 mm was described. The LV hypertrophy was asymmetric septal in 75% of cases, with LV outflow tract obstruction in 28%. The incidence of a composite of serious adverse cardiovascular events (sudden death, aborted sudden death, appropriate implantable cardiac defibrillator discharge, an embolic event, or admission for heart failure) was observed in five (20%) patients. Given the finding of the p.Arg652Lys variant in patients with HCM, but not in controls, with evident segregation in patients with HCM from eight families and the location in an active site of the protein, we can define this variant as likely pathogenic and associated with the development of HCM. Antoniutti G, Caimi-Martinez FG, Alvarez-Rubio J, Morlanes-Gracia P, Pons-Llinares J, Rodriguez-Picon B, et al. Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7. Genes. 2022 Feb 9;13(2):320. 2073-4425 https://hdl.handle.net/20.500.13003/19603 https://hdl.handle.net/20.500.12105/23441 35205365 10.3390/genes13020320 Genes 2-s2.0-85124672357 975408300001 L2015684341 NGS for diagnostics of CVDs cardiomyopathies cardiomyopathy genetic genetic testing hypertrophic cardiomyopathy next-generation sequencing variant classification variant interpretation Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7