{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T05:35:59Z","timestamp":1767591359613,"version":"3.48.0"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T00:00:00Z","timestamp":1767571200000},"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. Cardiovasc. Med."],"abstract":"<jats:p>Hypertrophic cardiomyopathy (HCM) represents the most prevalent form of hereditary cardiomyopathy, and mutation in the cardiac myosin-binding protein C (MYBPC3) gene have been identified as a major contributor to the pathogenesis of HCM. While the desmoplakin (DSP) gene is primarily associated with arrhythmogenic right ventricular cardiomyopathy (ARVC) and dilated cardiomyopathy (DCM), its role in HCM has been less frequently documented. This case report describes a Chinese patient with obstructive HCM harboring rare variants in both the MYBPC3 and DSP genes. These findings provide valuable insights for future investigations into the genetic underpinnings and disease associations.<\/jats:p>","DOI":"10.3389\/fcvm.2025.1630263","type":"journal-article","created":{"date-parts":[[2026,1,5]],"date-time":"2026-01-05T05:31:59Z","timestamp":1767591119000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["A case report of a Chinese patient with obstructive hypertrophic cardiomyopathy harboring rare variants in both the MYBPC3 and DSP genes"],"prefix":"10.3389","volume":"12","author":[{"given":"Xiao-Yuan","family":"Wu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ning","family":"Ren","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Geng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,1,5]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"e1239","DOI":"10.1161\/CIR.0000000000001250","article-title":"2024 AHA\/ACC\/AMSSM\/HRS\/PACES\/SCMR guideline for the management of hypertrophic cardiomyopathy: a report of the American Heart Association\/American College of Cardiology joint committee on clinical practice guidelines","volume":"149","author":"Ommen","year":"2024","journal-title":"Circulation"},{"key":"B2","doi-asserted-by":"publisher","first-page":"1249","DOI":"10.1016\/j.jacc.2015.01.019","article-title":"New perspectives on the prevalence of hypertrophic cardiomyopathy","volume":"65","author":"Semsarian","year":"2015","journal-title":"J Am Coll Cardiol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"858","DOI":"10.1136\/jmedgenet-2021-107911","article-title":"Genotype-phenotype correlation in arrhythmogenic right ventricular cardiomyopathy-risk of arrhythmias and heart failure","volume":"59","author":"Christensen","year":"2022","journal-title":"J Med Genet"},{"key":"B4","doi-asserted-by":"publisher","first-page":"387","DOI":"10.1161\/CIRCULATIONAHA.119.037661","article-title":"Reevaluating the genetic contribution of monogenic dilated cardiomyopathy","volume":"141","author":"Mazzarotto","year":"2020","journal-title":"Circulation"},{"key":"B5","doi-asserted-by":"publisher","first-page":"188","DOI":"10.1016\/j.gene.2015.09.008","article-title":"Cardiac myosin-binding protein C (MYBPC3) in cardiac pathophysiology","volume":"573","author":"Carrier","year":"2015","journal-title":"Gene"},{"key":"B6","doi-asserted-by":"publisher","first-page":"1039","DOI":"10.1016\/j.cardfail.2024.09.015","article-title":"Genetic testing practices and pathological assessments in patients with end-stage heart failure undergoing heart transplantation and left ventricular assist device use","volume":"31","author":"Silver","year":"2025","journal-title":"J Card Fail"},{"key":"B7","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1007\/s11154-016-9357-0","article-title":"Hypothyroid myopathy: a peculiar clinical presentation of thyroid failure. 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