Key result
Non-invasive metabolic imaging detects myocardial energy shifts linked to disease progression in genetic cardiomyopathies.
Why the study?
Data have accumulated supporting a direct effect of genetic variants on cardiac metabolism in genetic cardiomyopathies, prompting a review of imaging techniques used to visualize and quantify myocardial metabolism.
Advanced imaging techniques such as PET, SPECT, and MRS are valuable tools for visualizing and quantifying myocardial metabolic impairment in genetic cardiomyopathies.
May support research on metabolic targets in genetic cardiomyopathies; leaves open clinical adoption pending prospective validation.
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.
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Zan et al. (2025) conducted a review in Genetic cardiomyopathies. Metabolic imaging (PET, SPECT, MRS) was evaluated. Non-invasive metabolic imaging techniques, including PET, SPECT, and MRS, can detect myocardial energy depletion and substrate shifts that correlate with disease progression in genetic cardiomyopathies.
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