{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T04:48:03Z","timestamp":1782362883671,"version":"3.54.5"},"reference-count":11,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T00:00:00Z","timestamp":1782345600000},"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) is an autosomal dominant primary myocardial disease, primarily caused by pathogenic variants in genes encoding sarcomere-associated proteins. Among these, the cardiac myosin-binding protein C (MYBPC3) gene and the MYH7 gene are the two most common causative genes in patients with HCM, accounting for approximately 70% of cases with positive genetic variants. In patients with HCM, left ventricular aneurysm has been reported in fewer than 5% of cases in the absence of coronary artery disease. Variants in the KCNJ5 gene often lead to familial hyperaldosteronism type III and long QT syndrome type 13. Here, we report a rare case of HCM complicated by an apical ventricular aneurysm, accompanied by novel mutations in MYBPC3 and KCNJ5. This rare case, featuring two novel genetic variants, will help expand research on the genotype\u2013phenotype relationship in hypertrophic cardiomyopathy.<\/jats:p>","DOI":"10.3389\/fcvm.2026.1841777","type":"journal-article","created":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T04:21:23Z","timestamp":1782361283000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: A novel MYBPC3 gene variant in a Chinese patient with hypertrophic cardiomyopathy and apical ventricular aneurysm, with a concurrent novel KCNJ5 gene variant"],"prefix":"10.3389","volume":"13","author":[{"given":"Shan","family":"Han","sequence":"first","affiliation":[{"name":"Department of Cardiology, Chest Hospital, Tianjin University","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying-Yi","family":"Zhang","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Chest Hospital, Tianjin University","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jie","family":"Geng","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Chest Hospital, Tianjin University","place":["Tianjin, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,6,25]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"2324","DOI":"10.1016\/j.jacc.2024.02.014","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":"83","author":"Ommen","year":"2024","journal-title":"J Am Coll Cardiol"},{"key":"B2","doi-asserted-by":"publisher","first-page":"v256","DOI":"10.1093\/eurheartjsupp\/suaf077","article-title":"ANMCO position paper \u2018hypertrophic 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