Malik Ali, Kundur Sukruth Pradeep, Sivalokanathan Sanjay
Faculty of Life Sciences and Medicine, King's College London, UK.
Mount Sinai Fuster Heart Hospital, Icahn School of Medicine, New York, NY, USA.
Clin Med Insights Cardiol. 2025 Aug 29;19:11795468251369234. doi: 10.1177/11795468251369234. eCollection 2025.
Hypertrophic cardiomyopathy is a genetically inherited cardiac disorder that presents with diverse clinical phenotypes. It is associated with significant adverse outcomes, including arrhythmias and sudden cardiac death. Current gold-standard diagnostic methods include echocardiography and cardiac magnetic resonance imaging. These imaging modalities are the cornerstone in identifying structural abnormalities and aiding risk stratification. However, they fail to capture the preceding cellular and metabolic disturbances that underpin disease progression. Hyperpolarized magnetic resonance imaging (HP-MRI) is an emerging imaging technique that enables non-invasive and non-ionizing visualization of metabolic pathways. HP-MRI enhances the signal of metabolites like [1-C]pyruvate, providing insights into metabolic pathways. Alterations in the metabolic pathways of cardiomyocytes are central to HCM pathophysiology. HP-MRI may be able to delineate the metabolic consequences of sarcomere mutations and distinguish HCM from phenocopies such as glycogen storage disorders or cardiac amyloidosis. More importantly, it has the potential to detect early metabolic shifts and thus play a role in early diagnosis, personalized risk stratification, and monitoring therapeutic response. Although still in experimental stages with technical challenges, HP-MRI has demonstrated considerable potential in preclinical and small-scale studies, exhibiting effectiveness in the diagnosis and monitoring of malignancies across a substantial number of investigations. Further research focusing on larger cohorts and integrating HP-MRI with traditional cardiovascular imaging may pave the way for its clinical use, as well as risk stratification, in HCM.
肥厚型心肌病是一种具有多种临床表型的遗传性心脏疾病。它与包括心律失常和心源性猝死在内的重大不良后果相关。目前的金标准诊断方法包括超声心动图和心脏磁共振成像。这些成像方式是识别结构异常和辅助风险分层的基石。然而,它们无法捕捉到导致疾病进展的先前细胞和代谢紊乱。超极化磁共振成像(HP-MRI)是一种新兴的成像技术,能够对代谢途径进行非侵入性和非电离可视化。HP-MRI增强了如[1-C]丙酮酸等代谢物的信号,从而深入了解代谢途径。心肌细胞代谢途径的改变是肥厚型心肌病病理生理学的核心。HP-MRI或许能够描绘肌节突变的代谢后果,并将肥厚型心肌病与糖原贮积病或心脏淀粉样变性等表型模拟疾病区分开来。更重要的是,它有潜力检测早期代谢变化,从而在早期诊断、个性化风险分层和监测治疗反应中发挥作用。尽管HP-MRI仍处于技术挑战较多的实验阶段,但在临床前和小规模研究中已显示出相当大的潜力,在大量研究中对恶性肿瘤的诊断和监测表现出有效性。针对更大队列的进一步研究以及将HP-MRI与传统心血管成像相结合,可能为其在肥厚型心肌病中的临床应用以及风险分层铺平道路。