基因型阴性肥厚性心肌病：探讨心血管危险因素在疾病表达中的作用

IF 3.2 2区医学 Q2 CARDIAC & CARDIOVASCULAR SYSTEMS

International journal of cardiology Pub Date : 2025-06-02 DOI:10.1016/j.ijcard.2025.133444

Stephan A.C. Schoonvelde , Edgar E. Nollet , Peter-Paul Zwetsloot , Christian Knackstedt , Tjeerd Germans , Alexander Hirsch , Arend F.L. Schinkel , Marjon A. van Slegtenhorst , Judith M.A. Verhagen , Rudolf A. de Boer , Jolanda van der Velden , Michelle Michels

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引用次数: 0

摘要

背景肥厚性心肌病（HCM）是最常见的遗传性心肌疾病。在大约一半的患者中发现了遗传原因。早期研究已经发现基因型阳性（G+）和基因型阴性（G-） HCM患者的临床差异，本研究旨在进一步探讨这一差异。方法和结果探讨G+和G-患者基线特征的差异，包括心血管危险因素（CVRF）和表型因素。在不同年龄组和性别之间进行了亚分析。共纳入422例HCM患者（46%为G-， 54%为G+）。G-患者年龄较大(62岁vs 54岁，p <；0.001)，经历了更多的限制性心脏症状（47%对28%，p = 0.008），更频繁的左心室流出道梗阻(57%对38%，p <；0.001)。CVRF在G- HCM患者中比在G+ HCM患者中更普遍(70% vs 41%, p <；0.001)，高血压是最常见的因素(51% vs 22%, p <；0.001)。尽管调整了患者年龄，CVRF存在显著预测G-分级(OR 2.3, 95% CI 1.5-3.6, p <；0.001)。女性G-患者在年轻年龄组中较少流行，只有在老年组（60岁）中，女性G-患者的诊断晚于G+患者。结论cvrf，特别是高血压，在G-患者中更为普遍，与年龄无关，提示心血管健康可能有助于HCM疾病的发展。男女差异提示影响女性HCM发展的女性特异性因素。认识到G- HCM作为一种独特的临床实体可能对患者管理具有重要意义，对其病因的更全面了解可能有助于调整未来的治疗方法。

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Genotype-negative hypertrophic cardiomyopathy: Exploring the role of cardiovascular risk factors in disease expression

Background

Hypertrophic cardiomyopathy (HCM) is the most common inherited myocardial disease. An inheritable cause is identified in approximately half of patients. Earlier research has identified clinical differences between genotype-positive (G+) and genotype-negative (G-) HCM patients, which this study aimed to further explore.

Methods and results

Differences in baseline characteristics, including cardiovascular risk factors (CVRF), and phenotypical factors between G+ and G- patients were explored. Subanalyses among distinct age groups and sexes were performed. A total of 422 HCM (46 % G-, 54 % G+) patients were included. G- patients were older (62 vs 54 years, p < 0.001), experienced more limiting cardiac symptoms (47 % vs 28 %, p = 0.008), and more frequent left ventricular outflow tract obstruction (57 % vs 38 %, p < 0.001). CVRF were more prevalent in G- than in G+ HCM patients (70 % vs 41 %, p < 0.001), with hypertension being the most prevalent factor (51 % vs 22 %, p < 0.001). Despite adjusting for patient age, CVRF presence significantly predicted G- classification (OR 2.3, 95 %CI 1.5–3.6, p < 0.001). Female G- patients were less prevalent in younger age groups, and only in the older age group (>60 years) were female G- patients diagnosed later than their G+ counterparts.

Conclusion

CVRF, particularly hypertension, are more prevalent in G- patients independent of age, suggesting that cardiovascular health may contribute to HCM disease development. Male-female differences suggest female-specific factors affecting the development of HCM in women. Recognizing G- HCM as a distinct clinical entity may have important implications for patient management, and a more comprehensive understanding of its aetiology may aid in tailoring future therapies.

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来源期刊

International journal of cardiology 医学-心血管系统

CiteScore

6.80

自引率

5.70%

发文量

758

审稿时长

44 days

期刊介绍： The International Journal of Cardiology is devoted to cardiology in the broadest sense. Both basic research and clinical papers can be submitted. The journal serves the interest of both practicing clinicians and researchers. In addition to original papers, we are launching a range of new manuscript types, including Consensus and Position Papers, Systematic Reviews, Meta-analyses, and Short communications. Case reports are no longer acceptable. Controversial techniques, issues on health policy and social medicine are discussed and serve as useful tools for encouraging debate.