{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,4]],"date-time":"2026-08-04T17:50:20Z","timestamp":1785865820325,"version":"3.56.0"},"reference-count":17,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,2,8]],"date-time":"2024-02-08T00:00:00Z","timestamp":1707350400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:p><jats:bold>Background:<\/jats:bold> Hypertrophic cardiomyopathy (HCM) is a genetic condition with a prevalence of 1:500\u20131:3 000. Variants in genes encoding sarcomeric proteins are mainly responsible for the disease. <jats:italic>MYH7<\/jats:italic> gene encoding a myosin heavy chain beta, together with <jats:italic>MYPBC3<\/jats:italic> gene are the two most commonly affected genes. The clinical presentation of this disease varies widely between individuals. This study aims to report a variant of <jats:italic>MYH7<\/jats:italic> responsible for HCM in a five-generation family with a history of cardiac problems.<\/jats:p><jats:p><jats:bold>Methods:<\/jats:bold> The diagnosis was established according to the European Society of Cardiology HCM criteria based on two-dimensional Doppler echocardiography or cardiovascular magnetic resonance. Genetic analysis was performed using next-generation-sequencing and Sanger method.<\/jats:p><jats:p><jats:bold>Results:<\/jats:bold> The medical history of the presented family began with a prenatal diagnosis of HCM in the first child of a family with previously healthy parents. Five generations of the family had a long history of sudden cardiac death and cardiac problems. A NM_000257.4:c.2342T&amp;gt;A (p.Leu781Gln) variant was detected in the MYH7 gene. It was heterozygous in the proband and in all affected individuals in a large family. The variant was present in 10 affected members of the family, and was absent in 7 members. The clinical course of the disease was severe in several members of the family: three family members died of sudden cardiac death, one patient required heart transplantation, three underwent septal myectomy, and three required implantable cardioverter defibrillator (ICD) implantation.<\/jats:p><jats:p><jats:bold>Conclusion:<\/jats:bold> Herein, we report a <jats:italic>MYH7<\/jats:italic> variant responsible for HCM. Familial HCM is inherited primarily in autosomal dominant mode, which is in accordance with our study. However, the presented family showed a broad clinical spectrum of HCM. Out of 10 family members with positive genetic testing 8 had severe presentation of the disease and 2 had a mild phenotype. This suggests that the severity of the disease may depend on other factors, most likely genetic.<\/jats:p>","DOI":"10.3389\/fgene.2024.1306333","type":"journal-article","created":{"date-parts":[[2024,2,8]],"date-time":"2024-02-08T15:53:11Z","timestamp":1707407591000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":6,"title":["A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathy"],"prefix":"10.3389","volume":"15","author":[{"given":"Magda","family":"Franke","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomasz Marcin","family":"Ksi\u0105\u017cczyk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Dux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Przemys\u0142aw","family":"Chmielewski","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gra\u017cyna","family":"Truszkowska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Czapczak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rados\u0142aw","family":"Pietrzak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zofia Teresa","family":"Bilinska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Urszula","family":"Demkow","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bo\u017cena","family":"Werner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2024,2,8]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"22","DOI":"10.21542\/gcsp.2018.22","article-title":"Cardiac magnetic resonance imaging in the evaluation of patients with hypertrophic cardiomyopathy","volume":"2018","author":"Brenes","year":"2018","journal-title":"Glob. 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