Arrhythmogenic right ventricular cardiomyopathy/dysplasia in Saudi Arabia: a single-center experience with long-term follow-up

Abstract

BACKGROUND AND OBJECTIVESArrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D) is a rare genetic disorder that primarily involves the right ventricle (RV). It is characterized by progressive replacement of RV myocardium by fibrofatty tissues. It commonly presents with ventricular tachycardia (VT) of RV origin and may result in RV failure. The aim of this study is to evaluate the clinical characteristics of adult patients with ARVC/D treated at the Heart Centre, King Faisal Specialist Hospital and Research Centre (KFSH&RC), Riyadh, Saudi Arabia.DESIGN AND SETTINGSThis is a retrospective study of patients with ARVC/D diagnosed and treated at the KFSH&RC Heart Centre in Riyadh.PATIENTS AND METHODSTwenty-two cases with ARVC/D with regular follow-up at our Heart Centre from January 2007 to May 2010 were included in this study. The diagnosis of ARVC/D was made according to the revised International Task Force Criteria. The clinical data were collected from patients’ charts and electronic medical records.RESULTSThe majority of patients were males (18; 82%). The diagnosis of ARVC/D was definite in 18 patients (82%), borderline in 2 (9%), and possible in 2 (9%). The mean age at diagnosis was 33.3 years. The follow-up period ranged from 29 to 132 months, with a mean follow-up period of 84 months. Ten patients presented with sustained VT, and 3 were survivors of cardiac arrest. Electrocardiogram abnormalities were present in 16/22 patients (72.7%). Echocardiographic changes meeting major diagnostic criteria were seen in 16 patients (76%). Cardiac magnetic resonance imaging was performed in 11 patients, and showed changes compatible with major diagnostic criteria in 7 patients (64%). Implantable cardioverter defibrillators (ICDs) were implanted in 17 patients; 8 had appropriate ICD shocks and 5 had inappropriate ICD shocks. Antitachycardia pacing was effective in terminating most of the VT/ventricular fibrillation episodes.CONCLUSIONARVC/D is a rare but increasingly recognized heart muscle disease seen in Saudi Arabia and other parts of the world. It is associated with a highly nonspecific presentation. VT of RV origin is a common presentation for this disease. Antiarrhythmic medications and ICD implantation are the main management options.

Clinical and Genetic Characteristics of Arrhythmogenic Right Ventricular Cardiomyopathy Patients: A Single-Center Experience

“…ARVC is inherited predominantly as an autosomal dominant in its classical form and as autosomal recessive in non-classical form with cardiocutaneous disease such as Naxos disease, which is associated with palmoplantar keratoderma and woolly hair [ 8 ] and Carvajal syndrome [ 9 ]. We previously described the clinical characteristic of ARVC in Saudi Arabia [ 10 ]. However, genetic testing was only performed in 60% of patients in the previous study.…”

The Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

“…The median age at onset of the disease is about 30 years, whereas it rarely manifests before the age of 12 or after the age of 60 years [12,13]. ARVC/D is a leading cause of sudden cardiac death (SCD) accounting for 11-22% of cases of SCD in the young athlete patient population 8 [13][14][15].…”