De Zan Giulia, Guglielmo Marco, Cramer Maarten J, Hol Marjolein, van der Harst Pim, Velthuis Birgitta, Prompers Jeanine J, Te Riele Anneline S J M
Department of Cardiology, University Medical Center Utrecht, Heidelberglaan 100, Utrecht, 3584 CX, The Netherlands.
Department of Radiology and Nuclear Medicine, University Medical Center Utrecht, Utrecht, The Netherlands.
Int J Cardiovasc Imaging. 2025 Aug 8. doi: 10.1007/s10554-025-03470-2.
Genetic cardiomyopathies (CMPs) are a known cause of morbidity and mortality, with up to 50% of patients diagnosed below the age of 40 years for certain CMPs. With the improved availability of advanced imaging tools, significant progress has been made in early diagnosis and subsequent management. Due to the growing scientific interest in the genetic variants underlying these CMPs, data supporting a possible direct effect of the disease-defining genetic variant on cardiac metabolism have accumulated. Moreover, metabolic impairment seems to be correlated with phenotype, performance status and eventually prognosis at any stage of the disease. In this review we aim to outline the existing evidence supporting the use of imaging techniques to visualize and quantify myocardial metabolism in different CMPs. The review focuses on positron emission tomography (PET), single photon emission computed tomography (SPECT) and magnetic resonance spectroscopy (MRS), describing the basics of their functioning, strengths and weaknesses, and their use in the context of different CMPs. Finally, the latest technologies in this field and potential future directions in disease diagnosis and management are described.
遗传性心肌病（CMPs）是发病和死亡的已知原因，某些CMPs患者中高达50%在40岁以下被诊断出来。随着先进成像工具可用性的提高，早期诊断和后续管理取得了重大进展。由于对这些CMPs潜在基因变异的科学兴趣日益浓厚，支持疾病定义基因变异对心脏代谢可能有直接影响的数据不断积累。此外，代谢损害似乎与疾病任何阶段的表型、功能状态以及最终预后相关。在本综述中，我们旨在概述支持使用成像技术在不同CMPs中可视化和量化心肌代谢的现有证据。该综述重点关注正电子发射断层扫描（PET）、单光子发射计算机断层扫描（SPECT）和磁共振波谱（MRS），描述其功能基础、优缺点以及在不同CMPs中的应用。最后，描述了该领域的最新技术以及疾病诊断和管理的潜在未来方向。
