Heart failure & cardiomyopathiesDiagnostic or prognostic study
Comprehensive analysis of desmosomal protein remodelling identifies desmocollin-2 as potential biomarker for arrhythmogenic cardiomyopathy
- Diagnostic accuracy study
- multi-cohort
Authors' conclusion
DSC2 remodelling is a hallmark of ACM, harbouring significant diagnostic implications. DSC2 reduction is a robust biomarker for ACM, showing high sensitivity and specificity across different subtypes.
Study context
- Population
- Patients with arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM) or hypertrophic cardiomyopathy (HCM) and controls; myocardial tissue
- Participants
- 52 / 29 / 17 / 45
- Comparison
- DSC2 expression in ACM vs controls and other cardiomyopathies
- ACMn = 52
- DCMn = 29
- HCMn = 17
- Controlsn = 45reference
Performance
As reported in the abstract
DSC2 expression significantly reduced in ACM myocardium vs controls and other cardiomyopathies; consistent across ACM subtypes and validated in an independent cohort
P < 0.0001
RV DSC2 reduction discriminating ACM from controls, ROC AUC
0.8017 (P < 0.0001)
Swiss cohort: ACM cases with significantly reduced DSC2 signal intensity vs normal donors
11 out of 12 (91.7%)
Further findings
DSC2 down-regulation and clinical characteristics
- Correlated with age at onset of arrhythmia and heart transplantation
DSC2 gene expression (RNA-Seq)
- Significant down-regulation of DSC2 genes in ACM tissues
Original publication
Summarised from the published abstract; every number is checked against it