216-53: Clinical and Genetic Characteristics of Arrhythmogenic Right Ventricular Cardiomyopathy / Dysplasia Patients in Saudi Arabia: A Single Centre Experience

Abstract

Background: Arrhythmogenic Right Ventricular Dysplasia / Cardiomyopathy (ARVD/C) is an inherited progressive cardiomyopathy. We aimed to define the long-term outcome and genetic characteristics in a cohort of 31 patients with ARVD/C in a single tertiary care cardiac center in Saudi Arabia. Methods and Results: We enrolled in the study 31 patients with ARVD/C based on the revised 2010 ARVD/C Task Force Criteria (TFC), 25 males (80.65%), age at presentation 7 to 54 years (mean 31.8 ± 13.5 year, median 33 years). Patients presented predominantly with sustained ventricular tachycardia (VT) (48.4%), and syncope (25.8%). Three patients were survivors of cardiac arrest (9.7%). Over a mean follow up of 6.9± 7 years, and a median follow-up of 6 years, 10 of the 31 patients (32.25%) experienced sustained VT. Sudden cardiac death (SCD) during follow-up occurred in one patient without an ICD (3.22%), and one ICD patient (3.22%) died 5 years after ICD implantation because of heart failure. Overall, cardiac mortality and/or the need for cardiac transplantation were low (6.45% and 3.2%, respectively). Genetic testing was performed in 21 patients (67.7%), and 92 family members. Mutations were identified in 9 patients (42.8%), with most common mutation of PKP2 (7 patients). DSP mutation was found in 1 patient as was DCS2 mutation. Conclusions: ARVD/C long-term outcome was favorable in Saudi patients diagnosed and treated in our center and not different from what has been reported from other series. Genetic testing showed PKP2 gene to be the commonest gene defect in our patient.