In:
European Heart Journal Supplements, Oxford University Press (OUP), Vol. 24, No. Supplement_K ( 2022-12-15)
Abstract:
The combined prognostic role of cardiac magnetic resonance (CMR) and genotype in cardiomyopathies has not been fully investigated. The aim of this study was to identify specific genotype-CMR phenotype correlations in a well-characterized cohort of patients with a spectrum of left-sided cardiomyopathies spanning from arrhythmogenic (ACM) to dilated cardiomyopathy (DCM), and analyze patients’ outcome. Methods and Results One-hundred and seventy-four patients with DCM (127) and left sided ACM (47), who underwent a comprehensive evaluation including genetic testing and CMR imaging, were enrolled in this study. The phenotype was classified as DCM or ACM according to current consensus criteria. The primary outcome was a composite of sudden cardiac death/life-threatening ventricular arrhythmias (SCD/MVA). DCM patients showed more frequently pathogenic or likely pathogenic (P/LP) variants of non-arrhythmic genes (34% vs. 7%, p & lt; 0.001), whereas ACM patients reported more frequently P/LP variants of arrhythmic genes (47% vs. 8%, p & lt; 0.001) and non-ischemic free-wall LGE (30% vs. 10%, p = 0.002). After a median follow-up of 92 months (interquartile range 46 - 168), 39 patients (22%) reached the combined endpoint. Carrying a P/LP variant of arrhythmic genes (hazard ratio (HR) 2.2, 95% confidence interval (CI) 1.1 - 4.4, p = 0.024) along with presence of LGE (HR 4.5, 95% CI 1.99 - 11.5, p & lt; 0.001) were independently associated with the study endpoint. Conclusion In cohort of well-characterized left sided cardiomyopathies patients spanning from ACM to DCM, a P/LP variant of arrhythmic genes along with presence of LGE were independent predictors of SCD/MVA.
Type of Medium:
Online Resource
ISSN:
1520-765X
,
1554-2815
DOI:
10.1093/eurheartjsupp/suac121.211
Language:
English
Publisher:
Oxford University Press (OUP)
Publication Date:
2022
detail.hit.zdb_id:
2141255-8
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