{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T05:40:10Z","timestamp":1751866810239,"version":"3.41.0"},"reference-count":36,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T00:00:00Z","timestamp":1751846400000},"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:sec><jats:title>Aims<\/jats:title><jats:p>To assess the combined prognostic value of genotype and late gadolinium enhancement (LGE) in hypertrophic cardiomyopathy (HCM) patients, including those with preserved left ventricular ejection fraction (LVEF).<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>In 135 HCM patients (age 52.43\u2009\u00b1\u200911.35 years, 79.26% male), whole-exome sequencing, echocardiography, and cardiac magnetic resonance (CMR) were performed. Major adverse cardiovascular and cerebrovascular events (MACCEs, e.g., cardiac death, progressive heart failure, sustained ventricular tachycardia\/ventricular fibrillation, ICDs implantation, stroke, syncope, and atrial fibrillation) were analyzed over a median 15-month follow-up (IQR 9\u201336 months).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Pathogenic\/likely pathogenic variants (G+) were identified in 50 (37%) patients, and LGE (L+) in 54 (40%). L+ patients exhibited worse clinical profiles: higher NYHA III\u2013IV class (37% vs. 11%, <jats:italic>P<\/jats:italic>\u2009&amp;lt;\u20090.001), increased heart failure hospitalization (26% vs. 7%, <jats:italic>P<\/jats:italic>\u2009=\u20090.003), larger LV end-diastolic volume (median: 135, IQR: 125.25\u2013213.00 vs. median: 126, IQR: 106.00\u2013155.50, <jats:italic>P<\/jats:italic>\u2009=\u20090.004), lower LVEF (median: 55%, IQR: 39.75%\u201362% vs. median: 58%, IQR: 48%\u201365.5%, <jats:italic>P<\/jats:italic>\u2009=\u20090.012), and higher G+ prevalence (52% vs. 28%, <jats:italic>P<\/jats:italic>\u2009=\u20090.004). Both L+ (HR\u2009=\u20092.237, 95% CI: 1.178\u20134.247; <jats:italic>P<\/jats:italic>\u2009=\u20090.014) and G+ (HR\u2009=\u20091.872, 95% CI: 1.040\u20133.371; <jats:italic>P<\/jats:italic>\u2009=\u20090.037) independently predicted MACCEs after adjusting for age, NYHA class III\u2013IV, LVOT obstruction and LVEF, adjusting for age, NYHA class III\u2013IV, LVOT obstruction and LVEF. MACCE rates escalated across subgroups: G\u2212\/L\u2212 (22%), G+\/L\u2212 (39%), G\u2212\/L+ (41%), and G+\/L+ (63%) (<jats:italic>P<\/jats:italic>\u2009=\u20090.004). Among 89 patients with LVEF \u2265150%, G+\/L+ had the highest MACCE incidence (80% vs. 17% in G\u2212\/L\u2212, <jats:italic>P<\/jats:italic>\u2009&amp;lt;\u20090.001).<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>The combined assessment of genotype and late gadolinium enhancement significantly enhances risk stratification and prognosis prediction in hypertrophic cardiomyopathy patients, including those with preserved left ventricular ejection fraction, providing valuable insights for clinical decision-making.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fcvm.2025.1597405","type":"journal-article","created":{"date-parts":[[2025,7,7]],"date-time":"2025-07-07T05:27:19Z","timestamp":1751866039000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["The associations among genetic features, late gadolinium enhancement and prognosis in hypertrophic cardiomyopathy"],"prefix":"10.3389","volume":"12","author":[{"given":"Wenhua","family":"Su","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hao","family":"Wu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chen","family":"Chen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongjiang","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qiuyue","family":"Yu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liwen","family":"Liang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qian","family":"Huo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hongbo","family":"Lou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bingjun","family":"Che","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yan","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Juhua","family":"Dan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,7,7]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"655","DOI":"10.1056\/NEJMra1710575","article-title":"Clinical course and management of hypertrophic cardiomyopathy","volume":"379","author":"Maron","year":"2018","journal-title":"N Engl J Med"},{"key":"B2","doi-asserted-by":"publisher","first-page":"2002","DOI":"10.1016\/j.jcmg.2019.09.020","article-title":"The hypertrophic cardiomyopathy phenotype viewed through the prism of multimodality imaging: clinical and etiologic implications","volume":"13","author":"Rowin","year":"2020","journal-title":"JACC Cardiovasc Imaging"},{"key":"B3","doi-asserted-by":"publisher","first-page":"e159","DOI":"10.1016\/j.jacc.2020.08.045","article-title":"2020 AHA\/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy: a report of the American College of Cardiology\/American Heart Association joint committee on clinical practice guidelines","volume":"76","author":"Ommen","year":"2020","journal-title":"J Am Coll Cardiol"},{"key":"B4","doi-asserted-by":"publisher","first-page":"1687","DOI":"10.1016\/s0735-1097(03)00941-0","article-title":"American College of Cardiology\/European society of cardiology clinical expert consensus document on hypertrophic cardiomyopathy. 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