Abstract 19676: A Positive Genotype Predicts Clinical Outcomes in a Large Cohort With Dilated Cardiomyopathy

2017 
Introduction: Expansion of genetic testing in Dilated Cardiomyopathy (DCM) has increased mutation detection in patients. Nevertheless, genotype-phenotype correlations are still poorly understood. Hypothesis: To explore the genetic landscape of a large DCM cohort, assessing the effect of carrier status and association between specific genotypes and outcomes. Methods: Four hundred eighty-seven patients with available genetic testing analysis were analyzed and grouped into “gene clusters” with similar functions. Primary prognostic measures included all causes of mortality, heart transplantation or ventricular assist device implantation (D/HTx/VAD). Two secondary end-points were also considered: heart failure (HF)-related death/HTx/VAD (DHF/HTx/VAD) and sudden death (SCD)/major ventricular arrhythmias (MVA). Results: A total of 186 pathogenic/likely pathogenic variants were found in 180 patients (37%). The genetic clusters identified were: 55 (11%) TTNtv; 19 (4%) LMNA; 24 (5%) Structural Cytoskeleton-Z Disk g...
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