ORIGINAL RESEARCH article

Front. Cardiovasc. Med.

Sec. Cardiovascular Imaging

Volume 12 - 2025 | doi: 10.3389/fcvm.2025.1597405

This article is part of the Research TopicAdvances in Multi-Modality Imaging for Precision Medicine in CardiomyopathiesView all 5 articles

The associations among genetic features, late gadolinium enhancement and prognosis in hypertrophic cardiomyopathy

Provisionally accepted
Hong ZhangHong Zhang1*Wenhua SuWenhua Su1,2Hao WuHao Wu2Chen ChenChen Chen3Hongjiang ZhangHongjiang Zhang1Qiuyue YuQiuyue Yu1Liwen LiangLiwen Liang1Qian HuoQian Huo1Hongbo LouHongbo Lou1Bingjun CheBingjun Che1Yan ZhaoYan Zhao1Juhua DanJuhua Dan2
  • 1The First People’s Hospital of Yunnan Province, Kunming, China
  • 2Kunming University of Science and Technology, Kunming, Yunnan Province, China
  • 3Chongqing University, Chongqing, China

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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).In 135 HCM patients (age 51.60±11.10 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 9-36 months).Results 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-IV class (37% vs. 11%, P<0.001), increased heart failure hospitalization (26% vs. 7%, P = 0.003), larger LV end-diastolic volume (median: 135,

Keywords: Hypertrophic Cardiomyopathy, late gadolinium enhancement, Genotype, phenotype, Major adverse cardiac and cerebrovascular events

Received: 21 Mar 2025; Accepted: 19 Jun 2025.

Copyright: © 2025 Zhang, Su, Wu, Chen, Zhang, Yu, Liang, Huo, Lou, Che, Zhao and Dan. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

* Correspondence: Hong Zhang, The First People’s Hospital of Yunnan Province, Kunming, China

Disclaimer: All claims expressed in this article are solely those of the authors and do not necessarily represent those of their affiliated organizations, or those of the publisher, the editors and the reviewers. Any product that may be evaluated in this article or claim that may be made by its manufacturer is not guaranteed or endorsed by the publisher.

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