肥厚型心肌病的基因特征、延迟钆增强与预后之间的关联。

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

作者信息

Su Wenhua, Wu Hao, Chen Chen, Zhang Hongjiang, Yu Qiuyue, Liang Liwen, Huo Qian, Lou Hongbo, Che Bingjun, Zhao Yan, Dan Juhua, Zhang Hong

机构信息

Faculty of Life Science and Biotechnology, Kunming University of Science and Technology, Kunming, China.

Department of Cardiology, The First People's Hospital of Yunnan Province, Kunming, China.

出版信息

Front Cardiovasc Med. 2025 Jul 7;12:1597405. doi: 10.3389/fcvm.2025.1597405. eCollection 2025.

DOI:10.3389/fcvm.2025.1597405

PMID:40693221

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC12277264/

Abstract

AIMS

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).

METHODS

In 135 HCM patients (age 52.43 ± 11.35 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 9-36 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%, < 0.001), increased heart failure hospitalization (26% vs. 7%, = 0.003), larger LV end-diastolic volume (median: 135, IQR: 125.25-213.00 vs. median: 126, IQR: 106.00-155.50, = 0.004), lower LVEF (median: 55%, IQR: 39.75%-62% vs. median: 58%, IQR: 48%-65.5%, = 0.012), and higher G+ prevalence (52% vs. 28%, = 0.004). Both L+ (HR = 2.237, 95% CI: 1.178-4.247; = 0.014) and G+ (HR = 1.872, 95% CI: 1.040-3.371; = 0.037) independently predicted MACCEs after adjusting for age, NYHA class III-IV, LVOT obstruction and LVEF, adjusting for age, NYHA class III-IV, LVOT obstruction and LVEF. MACCE rates escalated across subgroups: G-/L- (22%), G+/L- (39%), G-/L+ (41%), and G+/L+ (63%) ( = 0.004). Among 89 patients with LVEF ≥150%, G+/L+ had the highest MACCE incidence (80% vs. 17% in G-/L-, < 0.001).

CONCLUSION

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.

摘要

目的

评估基因型和钆延迟增强（LGE）对肥厚型心肌病（HCM）患者（包括左心室射血分数[LVEF]保留的患者）的联合预后价值。

方法

对135例HCM患者（年龄52.43±11.35岁，男性占79.26%）进行全外显子组测序、超声心动图检查和心脏磁共振成像（CMR）。在中位15个月的随访期（四分位间距9 - 36个月）内分析主要不良心血管和脑血管事件（MACCE，如心源性死亡、进行性心力衰竭、持续性室性心动过速/心室颤动、植入植入式心律转复除颤器[ICD]、中风、晕厥和心房颤动）。

结果

在50例（37%）患者中鉴定出致病性/可能致病性变异（G+），54例（40%）患者存在LGE（L+）。L+患者表现出更差的临床特征：更高的纽约心脏协会（NYHA）III - IV级（37%对11%，P<0.001）、心力衰竭住院率增加（26%对7%，P = 0.003）、更大的左心室舒张末期容积（中位数：135，四分位间距：125.25 - 213.00对中位数：126，四分位间距：106.00 - 155.50，P = 0.004）、更低的LVEF（中位数：55%，四分位间距：39.75% - 62%对中位数：58%，四分位间距：48% - 65.5%，P = 0.012）以及更高的G+患病率（52%对28%，P = 0.004）。在调整年龄、NYHA III - IV级、左心室流出道梗阻和LVEF后，L+（风险比[HR] = 2.237，95%置信区间[CI]：1.178 - 4.247；P = 0.014）和G+（HR = 1.872，95% CI：1.040 - 3.371；P = 0.037）均独立预测MACCE。MACCE发生率在各亚组中逐步升高：G - /L - （22%）、G + /L - （39%）、G - /L + （41%）和G + /L + （63%）（P = 0.004）。在89例LVEF≥50%的患者中，G + /L + 的MACCE发生率最高（80%对G - /L - 的17%，P<0.001）。