Department of Immunology, Genetics, and Pathology, Uppsala University, Uppsala, Sweden.
Department of Medical Sciences, Cardiology, Uppsala University, Uppsala, Sweden.
Am J Cardiol. 2022 Sep 1;178:124-130. doi: 10.1016/j.amjcard.2022.05.015. Epub 2022 Jul 12.
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.
致心律失常性右室心肌病(ARVC)是一种遗传性心脏病,约占瑞典 35 岁以下年轻人群中 4%的心脏性猝死(SCD)病例。本研究旨在描述 2000 年 1 月 1 日至 2010 年 12 月 31 日期间,在瑞典接受尸检确诊为 ARVC 的所有年龄<35 岁的 SCD 患者的发病前情况(n=22)。从多个强制性国家健康登记处、临床记录、家庭访谈和尸检报告中收集了人口统计学、医疗和家族史、死亡情况以及解剖病理学发现的数据。基于登记的资料与年龄、性别和地理匹配的人群对照进行了比较。在 SCD 发生前的 6 个月中,有 15 例(68%)出现了心脏来源的症状,主要是晕厥或先兆晕厥(54%)和胸痛(27%)。共有 8 例(36%)因心脏症状就诊。与对照组相比,病例组就诊的情况明显增加(比值比 4.62[1.35 至 15.8])。有 10 例(45%)有 SCD 的家族史。死亡时最常见的活动是运动(41%)。很少进行完整的心脏检查;只有 1 例在死前被诊断为 ARVC。总之,在这项全国性研究中,我们观察到 ARVC 引起的年轻人群 SCD 发病前存在较高的心脏来源症状、医疗保健使用和 SCD 家族史的发生率。提高对这些年轻患者预警信号的认识对于改善风险分层和早期疾病发现至关重要。