Maximum Wall Thickness and Papillary Muscle Hypertrophy as Complementary Cardiac Biomarkers in Fabry Disease

BackgroundFabry disease (O_SCPLOWFDC_SCPLOW) is a rare and severe disease affecting multiple organ systems. However, its non-specific and heterogeneous presentation poses a critical challenge for early diagnosis, often delaying necessary treatment. In re-cent years, imaging-based biomarkers have been increasingly proposed to improve the understanding of O_SCPLOWFDC_SCPLOW and aid its diagnosis. This study presents a comprehensive comparative analysis of several previously proposed imaging-based cardiac biomarkers to assess their potential for diagnostic use. MethodsWe have developed a fully automated image analysis pipeline for quantifying cardiac metrics based on short-axis cine O_SCPLOWCMRC_SCPLOW data available on the UK Biobank. ResultsBased on the UK Biobank cohort, our analyses confirm the diagnostic relevance of the maximum myocardial wall thickness, a metric that mimics the current clinical practice for diagnosing left ventricular hypertrophy. Initial evidence also suggests that the PM/LV ratio, which measures the papillary muscle hypertrophy as the ratio between the areas of the papillary muscles and the left ventricular cavity, has potential prognostic relevance. ConclusionThis study contributes towards a better understanding of the cardiac presentation of FD, which may support future research in improving the diagnostic process. Additionally, our analysis pipeline can serve as a valuable basis for additional data analysis of imaging-based biomarkers for O_SCPLOWFDC_SCPLOW and other diseases.