Imaging of metabolic dysfunction in genetic cardiomyopathies

Abstract

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.