Key result
Abstract reports no findings on ALVC-associated pathogenic variant prevalence in suspected cardiac sarcoidosis.
Why the study?
Whether cardiac sarcoidosis and arrhythmogenic left ventricular cardiomyopathy share phenotypic and genetic overlap has not been investigated.
Do patients with high clinical suspicion for cardiac sarcoidosis more frequently carry disease-associated rare variants in ALVC-associated genes?
Observational
Do patients with high clinical suspicion for cardiac sarcoidosis more frequently carry disease-associated rare variants in ALVC-associated genes?
This study aims to investigate the potential genetic and phenotypic overlap between arrhythmogenic left ventricular cardiomyopathy and cardiac sarcoidosis.
Potential overlap may complicate sarcoidosis diagnosis; leaves open whether ALVC variant screening refines classification or management.
Sarcoidosis is a multi-system inflammatory disorder, triggered by environmental, genetic, and immunologic factors, that results in the formation and maintenance of non-necrotizing granulomatous deposition.Autopsy and cardiac imaging studies estimate that among patients with sarcoidosis, 25% have cardiac involvement (CS).While there is a lack of consensus diagnostic criteria for CS, cardiac magnetic resonance imaging (CMR) and 18Ffluorodeoxyglucose positron emission tomography (FDG-PET) are the best noninvasive diagnostic tools for detecting myocardial inflammation in CS.However, even in cases of high imaging likelihood of CS, histological analysis has confirmed the presence of findings consistent with arrhythmogenic cardiomyopathy. 1 Previous studies have demonstrated phenotypic overlap between arrhythmogenic right ventricular cardiomyopathy and CS and similar reduction in the desmosomal protein plakoglobin in patients with granulomatous myocarditis.Whether CS and arrhythmogenic left ventricular cardiomyopathy (ALVC) similarly overlap has not been investigated.2 The objective of this analysis was to evaluate the difference in proportions of disease-associated variants in ALVC-associated genes in patients with high clinical suspicion for CS.We hypothesized that patients with high clinical suspicion for CS would more frequently carry these disease-associated rare variants.
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Reza et al. (2023) conducted an observational in Cardiac Sarcoidosis. Pathogenic variants in ALVC-associated genes was evaluated on Proportions of disease-associated variants in ALVC-associated genes. The study aimed to evaluate the prevalence of pathogenic variants in ALVC-associated genes in patients with suspected cardiac sarcoidosis, but no results were reported in the abstract.
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