Key result
A six-miRNA biomarker set demonstrated high discriminatory diagnostic power for Arrhythmogenic Cardiomyopathy compared to controls (AUC 0.995) and other cardiomyopathies.
Why the study?
Although microRNAs have been proposed as non-invasive biomarkers in arrhythmogenic cardiomyopathy, data in larger disease cohorts were lacking.
Does a six-miRNA expression profile serve as an accurate non-invasive diagnostic biomarker for Arrhythmogenic Cardiomyopathy?
Observational (n=90)
Does a six-miRNA expression profile serve as an accurate non-invasive diagnostic biomarker for Arrhythmogenic Cardiomyopathy?
Effect estimate: AUC 0.995
A unique six-miRNA profile found in both heart tissue and blood of AC patients demonstrates high diagnostic accuracy, suggesting its potential as a non-invasive biomarker for Arrhythmogenic Cardiomyopathy.
May support non-invasive AC diagnosis; hypothesis-generating and requires prospective validation before adoption.
Arrhythmogenic Cardiomyopathy (AC) is a clinically and genetically heterogeneous myocardial disease. Half of AC patients harbour private desmosomal gene variants. Although microRNAs (miRNAs) have emerged as key regulator molecules in cardiovascular diseases and their involvement, correlated to phenotypic variability or to non-invasive biomarkers, has been advanced also in AC, no data are available in larger disease cohorts. Here, we propose the largest AC cohort unbiased by technical and biological factors. MiRNA profiling on nine right ventricular tissue, nine blood samples of AC patients, and four controls highlighted 10 differentially expressed miRNAs in common. Six of these were validated in a 90-AC patient cohort independent from genetic status: miR-122-5p, miR-133a-3p, miR-133b, miR-142-3p, miR-182-5p, and miR-183-5p. This six-miRNA set showed high discriminatory diagnostic power in AC patients when compared to controls (AUC-0.995), non-affected family members of AC probands carrying a desmosomal pathogenic variant (AUC-0.825), and other cardiomyopathy groups (Hypertrophic Cardiomyopathy: AUC-0.804, Dilated Cardiomyopathy: AUC-0.917, Brugada Syndrome: AUC-0.981, myocarditis: AUC-0.978). AC-related signalling pathways were targeted by this set of miRNAs. A unique set of six-miRNAs was found both in heart-tissue and blood samples of AC probands, supporting its involvement in disease pathogenesis and its possible role as a non-invasive AC diagnostic biomarker.
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Marinas et al. (2020) conducted an observational in Arrhythmogenic Cardiomyopathy (n=90). Six-miRNA biomarker set vs. Controls and other cardiomyopathies was evaluated on Discriminatory diagnostic power for Arrhythmogenic Cardiomyopathy vs controls (AUC 0.995). A six-miRNA biomarker set demonstrated high discriminatory diagnostic power for Arrhythmogenic Cardiomyopathy compared to controls (AUC 0.995) and other cardiomyopathies.
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