Abstract 12336: Genetic Testing in a Population of Patients With End Stage Heart Failure — Too Little, Too Late?

Abstract

Introduction: Nonischemic dilated cardiomyopathy (CM) is the most common cause of end stage heart failure (ESHF). Familial/genetic CMs are underdiagnosed CM subtypes, and recognition of these CMs has implications for the treatment of patients and their relatives. We aimed to characterize the screening for familial/genetic CM in a cohort of patients with ESHF due to nonischemic CM. Methods: Single-center, retrospective analysis of patients with nonischemic CM who underwent left ventricular assist device or heart transplantation (LVAD/HT) from 1992-2019. Demographics, clinical characteristics, family history (FHx), and genetic testing results were collected. Results: A total of 248 patients (73 women [29%]) were included. Age at CM diagnosis was 23 years (IQR 20.5, 29.5) for patients with suspected or confirmed familial, genetic, or noncompaction CM versus 44 years (IQR 35, 52) for other nonischemic etiologies (p<0.001). A 3-generation FHx was reported for 23% of patients; 25 (18 men [72%]) underwent genetic testing. Median time between LVAD/HT and genetic testing was 519 days. Five patients underwent genetic testing prior to LVAD/HT. Cascade screening was recommended in 15/25 (75%). Twelve of 25 (48%) had a disease-causing genetic variant identified (Table). Among these 12, median age at CM diagnosis was 25.5 years (IQR 20.5, 35) compared with 40.5 years (IQR 27, 45.5) for those (n=13) who underwent genetic testing but did not have any causative variants identified. Conclusion: In this cohort of patients with ESHF due to nonischemic CM, only 23% had a documented 3-generation FHx, only 10% underwent genetic testing, most patients underwent genetic testing after LVAD/HT, and patients with suspected or confirmed familial/genetic CM presented at significantly younger ages. Our findings highlight opportunities to improve underdiagnosis of familial/genetic CM, especially for those patients who present with advanced HF in the third decade of life.