Variation in Both Macroscopic and Microscopic Features of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
K Patel, SV de Noronha, MN Sheppard. Imperial College, London, United Kingdom; Royal Brompton and Harefield NHS Foundation Trust Hospital, London, United Kingdom
Background: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a rare dominantly inherited cardiac disease characterised by ventricular arrhythmias and sudden cardiac death (SCD).
Design: We retrospectively identified 73 referrals of sudden cardiac death with ARVC.
Results: The majority of cases in this study were male (n=54) with a median age of 35 years. Nine cases had a family history of cardiac disease and 4 had received a clinical diagnosis of ARVC during life. SCD occurred during exertion (n=27), at home (n=22), community (n=13), hospital (n=4) and unknown (n=9). Where an opinion was provided by the referring pathologist (n=48) the macroscopic findings were classic ARVC (n=19), hypertrophy (n=10, LVH: 9, BVH: 1), LV fibrosis (n=6), normal (n=6), dilated cardiomyopathy (n=5) and ischaemic heart disease (n=2). Of the 43 hearts we analysed, our macroscopic findings were of classic ARVC (n=22), hypertrophy (n=12, LVH and RV fat: 6, LVH: 3, right ventricular hypertrophy: 2, BVH: 1), LV fibrosis (n=5) and normal (n=4). Histologically our analysis identified the predominance of biventricular involvement (n=50), exclusive right ventricular involvement (n=18), and a smaller group with exclusive left ventricular involvement (n=5). ARVC is difficult to diagnose and is prone to misdiagnosis when relying on macroscopic findings alone, which can be variable.
Conclusions: Our study shows that even with specialist examination there was a spectrum of macroscopic findings in ARVC that apart from the classic presence of fat included hypertrophy, fibrosis and even no abnormal features. Therefore, a detailed histological analysis is essential to confirm the diagnosis which can often mimic other cardiomyopathies. A correct diagnosis is important for family members as this is a genetically inherited disease.
Wednesday, March 24, 2010 1:00 PM
Poster Session VI # 27, Wednesday Afternoon