Abstract 14343: Early Genetic Screening and Cardiac Intervention in Patients With Genetic Cardiomyopathies Within a Multidisciplinary Care Model

• DOI: 10.1161/circ.148.suppl_1.14343
• Publication Date: 2023-12-19T07:59:21Z
• Authors: Chandu Sadasivan; Luke R Gagnon; Kaiming Wang; Deepan Hazra; Tara Dzwiniel; Susan Christian; Jissy Thomas; Anita Y Chan; David I Paterson; Wayne Tymchak; Gavin Y Oudit

Introduction: Patients with genetic cardiomyopathies are a heterogeneous group of patients who experience significant morbidity and mortality. Early cardiac assessment intervention coupled access to counselling testing may improve clinical outcomes prevent progression end-stage heart failure. Methods: Our prospective cohort study was conducted at our multidisciplinary Cardiomyopathy Clinic suspected cardiomyopathy (CM) or family history CM ( n =405) were recruited. analysis completed =228) categorized into dilated (DCM) n= 118), hypertrophic (HCM) 55), infiltrative 18), Stage A/at-risk for 37). Continuous variables analyzed using Wilcoxon signed-rank test paired t test, while categorical compared Pearson chi-square tests. Results: There median follow-up time 13 months (IQR: 7 - 21 months) an increase in testing, cascade screening, optimization guideline-directed medical therapy, usage device therapies prior clinic enrolment. In 29.4% 67) had positive genotypes (pathogenic likely pathogenic variants), 11.8% 27) variants unknown significance (VUS), 58.8% 134) negative inconclusive genotypes. Optimization resulted improvements left ventricular ejection fraction from 30.5% (20.8 42.5%) 45.5% (34.0 48.5%, P< 0.001), reduced mass index 121.2 g/m 2 (116.2 146.4 ) 107.0 (88.9 134.7 , E/e’ ratio 12.6 cm/s (9.2 15.3 cm/s) 10.9 (9.0 14.2 cm/s, P= 0.015). These driven by (no VUS) relative those Additionally, normal blood pressure (SBP < 120 mmHg DBP 80 mmHg) improvement LVEF 0.001) LVMI 0.005). Conclusion: findings demonstrate the efficacy combined cardiovascular genetics improving trajectories cardiomyopathies.