DOI: 10.1161/circ.148.suppl_1.17084 ISSN: 0009-7322

Abstract 17084: Impact of Hereditary Gene Mutations on Outcomes in an Ethnically Diverse Patient Cohort With Nonischemic Dilated Cardiomyopathy

Cody Kelso, Apurv Prabhakar, Jeffrey Ding, Pooja Nair, Anjali Kumar, Rachel White, Quan M Bui, Eric Adler, Kimberly N Hong
  • Physiology (medical)
  • Cardiology and Cardiovascular Medicine

Introduction: Nonischemic cardiomyopathy (NICM) is a leading cause of heart failure (HF). Heritable gene mutations are found in a subset of these cases and help to identify at risk individuals. The purpose of this study is to characterize the impact of genotype on clinical outcomes.

Methods: Data from a single center registry of patients who underwent cardiomyopathy and arrhythmias gene panel testing between 2018 and 2022 was used. Patients with an LVEF < 50% without a history of hypertrophic, infiltrative or ischemic cardiomyopathy were included. Genotyping, demographics, and clinical data including HF and major ventricular arrhythmia (MVA) outcomes were collected. Patients were stratified by genotype ((+): Pathogenic/Likely Pathogenic; (-): VUS/Likely Benign/Benign/no variant). Genotype (+) patients were also grouped by functional gene class. Chi Square and Wilcoxon testing were used for between group comparisons. Kaplan Meier with log-rank testing was used for time to event analyses.

Results: This study included 350 patients with a median age of 54 years (IQR: 42-65 years) at last follow up. Table 1 shows demographics and outcomes. Genotype (+) patients had more HF and MVA events. There was a trend towards genotype predicting HF and MVA at all ages, with curves separating after age 26 (p = 0.0475) Figure 1. Genotype (+) LMNA patients had HF and MVA events at earlier ages compared to Genotype (-) (n=6, 85.7 %, p = 0.005).

Conclusion: NICM patients with a hereditary gene identified have worse outcomes than those without, suggesting an opportunity to improve risk stratification and guide patient management decisions with genetic testing.

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