{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T09:05:08Z","timestamp":1791363908220,"version":"4.3.1"},"reference-count":22,"publisher":"MDPI AG","issue":"2","license":[{"start":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T00:00:00Z","timestamp":1644364800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"Spanish Biomedical Research Centre in Physiopathology of Obesity and Nutrition","award":["1"],"award-info":[{"award-number":["1"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>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\u2019s 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.<\/jats:p>","DOI":"10.3390\/genes13020320","type":"journal-article","created":{"date-parts":[[2022,2,9]],"date-time":"2022-02-09T21:19:06Z","timestamp":1644441546000},"page":"320","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in MYH7"],"prefix":"10.3390","volume":"13","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0950-4603","authenticated-orcid":false,"given":"Guido","family":"Antoniutti","sequence":"first","affiliation":[{"name":"Cardiology Department, Hospital Universitario Son Ll\u00e0tzer, 07198 Palma de Mallorca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0657-0306","authenticated-orcid":false,"given":"Fiama Giuliana","family":"Caimi-Martinez","sequence":"additional","affiliation":[{"name":"Cardiology Department, Hospital Universitario Son Ll\u00e0tzer, 07198 Palma de Mallorca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge","family":"\u00c1lvarez-Rubio","sequence":"additional","affiliation":[{"name":"Cardiology Department, Hospital Universitario Son Ll\u00e0tzer, 07198 Palma de Mallorca, Spain"},{"name":"Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paula","family":"Morlanes-Gracia","sequence":"additional","affiliation":[{"name":"Cardiology Department, Hospital Cl\u00ednico Universitario Lozano Blesa, 50009 Zaragoza, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaume","family":"Pons-Llinares","sequence":"additional","affiliation":[{"name":"Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain"},{"name":"Cardiology Department, Hospital Universitario Son Espases, 07120 Palma de Mallorca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Blanca","family":"Rodr\u00edguez-Pic\u00f3n","sequence":"additional","affiliation":[{"name":"Cardiology Unit, Hospital Mateu Orfila, 07703 Menorca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Fortuny-Frau","sequence":"additional","affiliation":[{"name":"Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain"},{"name":"Cardiology Department, Hospital Universitario Son Espases, 07120 Palma de Mallorca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8739-6081","authenticated-orcid":false,"given":"Laura","family":"Torres-Juan","sequence":"additional","affiliation":[{"name":"Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain"},{"name":"Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitario Son Espases, 07120 Palma de Mallorca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9374-1219","authenticated-orcid":false,"given":"Damian","family":"Heine-Suner","sequence":"additional","affiliation":[{"name":"Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain"},{"name":"Unit of Molecular Diagnostics and Clinical Genetics, Hospital Universitario Son Espases, 07120 Palma de Mallorca, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9222-325X","authenticated-orcid":false,"given":"Tomas","family":"Ripoll-Vera","sequence":"additional","affiliation":[{"name":"Cardiology Department, Hospital Universitario Son Ll\u00e0tzer, 07198 Palma de Mallorca, Spain"},{"name":"Health Research Institute of the Balearic Islands (IdISBa), 07120 Palma de Mallorca, Spain"},{"name":"CIBEROBN (Physiopathology of Obesity and Nutrition), 28029 Madrid, Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2022,2,9]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"743","DOI":"10.1161\/CIRCRESAHA.110.223834","article-title":"Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: A personal history","volume":"108","author":"Seidman","year":"2011","journal-title":"Circ. 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