660 Echocardiographic Right Ventricular Assessment in Adult Patients With Repaired Tetralogy of Fallot

Abstract

Aim: To describe the early experience of a combined adult congenital heart disease (ACHD) and genetics clinic designed to reduce the number of clinic visits and facilitate multidisciplinary assessment. Methods: Retrospective analysis of patients referred between Jan 2019-2020 was undertaken. Patients were referred if they had CHD and either dysmorphic features, multiple congenital defects, or family history of congenital disease. Results: 14 of 126 (11.1%) new ACHD referrals met criteria and all had genetic testing. 6 cases revealed significant gene variants (DNAH5, ARSE, NOTCH1, ELN, TAB2 in 2), 4 cases returned variants of unknown significance (VUS) likely not relevant, and 3 patients had no abnormalities. Results shown in Table 1. Conclusion: A genetic aetiology was commonly suspected in new ACHD referrals, and a genetic abnormality was identified in over 40% of that patient subset. Our initial experience suggests genetic testing is warranted in appropriately selected patients. Identifying a genetic abnormality provided closure, led to new diagnoses, and assisted with guiding future management and family planning.