Abstract：
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited cardiac disease explaining about 4% of sudden cardiac death (SCD) cases in the young in Sweden. This study aimed to describe the circumstances preceding SCD in all victims <35 years of age who received an autopsy-confirmed diagnosis of ARVC from January 1, 2000, to December 31, 2010, in Sweden (n = 22). Data on demographics, medical and family history, circumstances of death, and anatomopathological findings were collected from several compulsory national health registries, clinical records, family interviews, and autopsy reports. Registry-based data were compared with age-matched, gender-matched, and geographically-matched population controls. During the 6 months preceding SCD, 15 cases (68%) had experienced symptoms of cardiac origin, mainly syncope or presyncope (54%) and chest discomfort (27%). A total of 8 cases (36%) had sought medical care because of cardiac symptoms. The occurrence of hospital visits was significantly increased in cases compared with controls (odds ratio 4.62 [1.35 to 15.8]). A total of 10 cases (45%) had a family history of SCD. The most common activity at the time of death was exercise (41%). A complete cardiac investigation was seldom performed; only 1 case was diagnosed with ARVC before death. In conclusion, in this nationwide study, we observed a high prevalence of symptoms of cardiac origin, healthcare use, and family history of SCD preceding SCD in the young caused by ARVC. Increased awareness of these warning signals in younger patients is critical to improving risk stratification and early disease detection.
摘要：
致心律失常性右心室心肌病（ARVC）是一种遗传性心脏病，解释了瑞典年轻人中约4％的心源性猝死（SCD）病例。本研究旨在描述从2000年1月1日至2010年12月31日在瑞典接受尸检确认诊断为ARVC的所有<35岁受害者的SCD之前的情况（n=22）。人口统计数据，病史和家族史,死亡的情况,和解剖病理学发现是从几个强制性的国家卫生登记处收集的，临床记录,家庭访谈,还有尸检报告.基于注册表的数据与年龄匹配的数据进行了比较，性别匹配，和地理匹配的人口控制。在SCD之前的6个月内，15例（68%）有心源性症状，主要是晕厥或晕厥前(54%)和胸部不适(27%)。共有8例（36％）因心脏症状而寻求医疗服务。与对照组相比，病例的住院次数显着增加（比值比4.62[1.35至15.8]）。共有10例(45%)有SCD家族史。死亡时最常见的活动是运动（41％）。很少进行完整的心脏检查；死亡前只有1例诊断为ARVC。总之,在这项全国性的研究中，我们观察到心脏起源症状的患病率很高，医疗保健使用,以及由ARVC引起的年轻SCD之前的SCD家族史。提高年轻患者对这些警告信号的认识对于改善风险分层和早期疾病检测至关重要。
