{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T17:35:04Z","timestamp":1790012104747,"version":"4.0.1"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","issue":"7-8","license":[{"start":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T00:00:00Z","timestamp":1690156800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T00:00:00Z","timestamp":1690156800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neth Heart J"],"published-print":{"date-parts":[[2023,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec>\n                <jats:title>Introduction<\/jats:title>\n                <jats:p>The <jats:italic>MYH7<\/jats:italic> c.5135G\u202f&gt;\u2009A p.(Arg1712Gln) variant has been identified in several patients worldwide and is classified as pathogenic in the ClinVar database. We aimed to delineate its associated phenotype and evaluate a\u00a0potential founder effect.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Methods<\/jats:title>\n                <jats:p>We retrospectively collected clinical and genetic data of 22\u00a0probands and 74\u00a0family members from an international cohort.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Results<\/jats:title>\n                <jats:p>In total, 53\u00a0individuals carried the <jats:italic>MYH7<\/jats:italic> p.(Arg1712Gln) variant, of whom 38 (72%) were diagnosed with hypertrophic cardiomyopathy (HCM). Mean age at HCM diagnosis was 48.8\u00a0years (standard deviation:\u00a018.1; range: 8\u201374). The clinical presentation ranged from asymptomatic HCM to arrhythmias (atrial fibrillation and malignant ventricular arrhythmias). Aborted sudden cardiac death (SCD) leading to the diagnosis of HCM occurred in one proband at the age of 68\u00a0years, and a\u00a0family history of SCD was reported by 39% (5\/13) probands. Neither heart failure deaths nor heart transplants were reported. Women had a\u00a0generally later-onset disease, with 14% of female carriers diagnosed with HCM at age 50\u00a0years compared with 54% of male carriers. In both sexes, the disease was fully penetrant by age 75\u00a0years. Haplotypes were reconstructed for 35\u00a0patients and showed a\u00a0founder effect in a\u00a0subset of patients.<\/jats:p>\n              <\/jats:sec><jats:sec>\n                <jats:title>Conclusion<\/jats:title>\n                <jats:p><jats:italic>MYH7 p<\/jats:italic>.(Arg1712Gln) is a\u00a0pathogenic founder variant with a\u00a0consistent HCM phenotype that may present with delayed penetrance. This suggested that clinical follow-up should be pursued after the seventh decade in healthy carriers and that longer intervals between screening may be justified in healthy women &lt;\u202f30\u00a0years.<\/jats:p>\n              <\/jats:sec>","DOI":"10.1007\/s12471-023-01798-9","type":"journal-article","created":{"date-parts":[[2023,7,24]],"date-time":"2023-07-24T17:02:30Z","timestamp":1690218150000},"page":"300-307","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset"],"prefix":"10.1007","volume":"31","author":[{"given":"Luisa","family":"Marsili","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Freyja H. 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Accessed 14 April 2023."}],"container-title":["Netherlands Heart Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12471-023-01798-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s12471-023-01798-9\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s12471-023-01798-9.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,3]],"date-time":"2023-08-03T12:08:17Z","timestamp":1691064497000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s12471-023-01798-9"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,7,24]]},"references-count":14,"journal-issue":{"issue":"7-8","published-print":{"date-parts":[[2023,8]]}},"alternative-id":["1798"],"URL":"https:\/\/doi.org\/10.1007\/s12471-023-01798-9","relation":{},"ISSN":["1568-5888","1876-6250"],"issn-type":[{"value":"1568-5888","type":"print"},{"value":"1876-6250","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,7,24]]},"assertion":[{"value":"4 July 2023","order":1,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 July 2023","order":2,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"L.\u00a0Marsili, F.H.\u00a0M.\u00a0van Lint, F.\u00a0Russo, K.Y.\u00a0van Spaendonck-Zwarts, F.\u00a0Ader, M.-L.\u00a0Bichon, L.\u00a0Faivre, A.C.\u00a0Houweling, B.\u00a0Isidor, R.H.\u00a0Lekanne Deprez, M.G.\u00a0P.\u00a0J.\u00a0Cox, A.A.\u00a0M.\u00a0Wilde, B.\u00a0Mazel, S.\u00a0Mercier, D.\u00a0Dooijes, G.\u00a0Millat, K.\u00a0Nguyen, J.G.\u00a0Post, P.\u00a0Richard, I.\u00a0van de Beek, A.M.\u00a0C.\u00a0Vermeer, L.\u00a0Boven, J.D.\u00a0H.\u00a0Jongbloed, J.\u00a0P.\u00a0van Tintelen and The European Reference Network for Rare and Low Prevalence Complex Diseases of the Heart declare that they have no competing interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Conflict of interest"}}]}}