Ostman-Smith Ingegerd
Division of Paediatric Cardiology, Institute of Clinical Sciences, Sahlgrenska Academy, Gothenburg University, Sweden.
Open Access J Sports Med. 2011 Jul 21;2:85-97. doi: 10.2147/OAJSM.S10675.
Athletic activity is associated with an increased risk of sudden death for individuals with some congenital or acquired heart disorders. This review considers in particular the causes of death affecting athletes below 35 years of age. In this age group the largest proportion of deaths are caused by diseases with autosomal dominant inheritance such as hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, long QT-syndrome, and Marfan's syndrome. A policy of early cascade-screening of all first-degree relatives of patients with these disorders will therefore detect a substantial number of individuals at risk. A strictly regulated system with preparticipation screening of all athletes following a protocol pioneered in Italy, including school-age children, can also detect cases caused by sporadic new mutations and has been shown to reduce excess mortality among athletes substantially. Recommendations for screening procedure are reviewed. It is concluded that ECG screening ought to be part of preparticipation screening, but using criteria that do not cause too many false positives among athletes. One such suggested protocol will show positive in approximately 5% of screened individuals, among whom many will be screened for these diseases. On this point further research is needed to define what kind of false-positive and false-negative rate these new criteria result in. A less formal system based on cascade-screening of relatives, education of coaches about suspicious symptoms, and preparticipation questionnaires used by athletic clubs, has been associated over time with a sizeable reduction in sudden cardiac deaths among Swedish athletes, and thus appears to be worth implementing even for junior athletes not recommended for formal preparticipation screening. It is strongly argued that in families with autosomal dominant disorders the first screening of children should be carried out no later than 6 to 7 years of age.
对于患有某些先天性或后天性心脏病的个体，体育活动会增加猝死风险。本综述特别关注影响35岁以下运动员的死亡原因。在这个年龄组中，最大比例的死亡是由常染色体显性遗传疾病引起的，如肥厚型心肌病、致心律失常性右心室心肌病、长QT综合征和马凡综合征。因此，对这些疾病患者的所有一级亲属进行早期级联筛查的政策将检测出大量有风险的个体。遵循意大利率先采用的方案，对所有运动员（包括学龄儿童）进行赛前筛查的严格监管系统，也能检测出由散发性新突变引起的病例，并且已被证明能大幅降低运动员中的超额死亡率。本文回顾了筛查程序的建议。结论是，心电图筛查应该成为赛前筛查的一部分，但使用的标准不应在运动员中造成过多假阳性。一种建议的方案在大约5%的筛查个体中会呈阳性，其中许多人将接受这些疾病的筛查。在这一点上，需要进一步研究来确定这些新标准会导致何种假阳性和假阴性率。一种基于亲属级联筛查、对教练进行可疑症状教育以及体育俱乐部使用赛前问卷的不太正式的系统，随着时间的推移，与瑞典运动员心脏性猝死的大幅减少相关，因此，即使对于不建议进行正式赛前筛查的青少年运动员，似乎也值得实施。强烈主张，对于患有常染色体显性疾病的家庭，儿童的首次筛查应在不晚于6至7岁时进行。
