1270The epidemiological and phenotypic characteristics of SCD victims with ARVC in Sweden between 2000-2010: a Nationwide study

Abstract

Abstract Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is autosomal dominant inherited, and associated with a significant risk of sudden cardiac death (SCD) due to a progressive fibrofatty replacement of the myocardium predisposing for ventricular arrhythmias. It is a main cause of SCD in individuals younger than 40 years of age. The prevalence of ARVC in young individuals with SCD in Sweden has recently been approximated to 4 %, but the characteristics of these patients have not been described before. Purpose To study the patient characteristics, physical activity level, medical history, family history and symptoms prior death in subjects who died due to ARVC. Methods A retrospective study of all subjects aged 1-35 years who died a SCD due to ARVC in Sweden between 1 January 2000 and 31 December 2010. The diagnosis ARVC was based on data from a forensic or clinical autopsy and a histological examination. We also collected data from the police report, medical records, as well as through interviews with family members. Results A total of 552 individuals died from SCD during the study period. The study population consists of 22 cases with autopsy verified ARVC. In our cohort there were included 14 males and 8 females. The mean age was 23.7 years old (min age: 13, max age: 35). Two subjects were diagnosed with ARVC prior to the SCD. In addition, one subject had survived a cardiac arrest a few years before, and got diagnosed with Long QT Syndrome. Another subject was diagnosed with myocarditis just a few months before death. Further, four subjects had a history of ventricular tachycardia, and three subjects had a history of seizures. Fifteen of the subjects had experienced cardiac symptoms before SCD nine had a history of syncope, presyncope or both; six subjects had experienced chest discomfort; nine subjects had a history of palpitations. In total, eight of fifteen subjects had sought medical care prior to SCD because of cardiac symptoms. The majority of the cases were physically active, five participated in competitive sports and 12 in recreational activities. Regarding the type of physical activity, 15/22 participated in a high dynamic physical activity. Twelve subjects had a positive family history of SCD. In 10 cases, there was a family history of SCD, but only in two in a first degree relative. Three family members had ICD. In four cases there was a family history of cardiomyopathy (one case with Hypertrophic Cardiomyopathy, one with myocarditis, and two with ARVC). CPVT was also diagnosed in one family prior to SCD. Conclusions In this nationwide study of SCD in the young, only two of the 22 subjects had a clinical diagnosis of ARVC prior to death, despite that, most of the individuals had either a history of ventricular arrhythmias or had experienced cardiac symptoms.