Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy
Sudden Death and Left Ventricular Involvement in Arrhythmogenic Cardiomyopathy
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DOI：
10.1161/circulationaha.118.037230
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发表时间：
2019-04-09
期刊：
影响因子：
37.8
通讯作者：
Sheppard, Mary N.
中科院分区：
文献类型：
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作者：
Miles, Chris;Finocchiaro, Gherardo;Sheppard, Mary N.
背景：致心律失常型心肌病(ACM)是一种遗传性心肌疾病，以心肌纤维脂肪替代和心源性猝死(SCD)风险增加为特征。ACM最初被描述为一种右室疾病，现在越来越多地被认为是一种双室实体。我们评估了一个大型SCD队列中的病理、遗传和临床相关性。方法：我们调查了1994-2018年间国家心脏病理中心连续收治的5205例SCD病例。心脏和组织块由专业的心脏病理学家检查。经综合组织学评估，202例(4%)确诊为ACM。其中15例(7%)生前诊断为扩张型心肌病(n=8)或急性心肌梗死(n=7)。记录既往症状、病史、死亡情况和参加竞技运动。202例中有24例(12%)进行了死后基因检测。根据美国医学遗传学和基因组学标准对罕见的遗传变异进行分类。结果：在202例ACM患者中(35.4岁+/-13.2岁；82%的男性)，157例(78%)以前没有心脏症状。参加过竞技体育的有41人(41/202；20%)。调整后的体力消耗死亡风险男性高于女性(优势比，4.58；95%CI，1.54~13.68；P=0.006)；竞技运动员高于非运动员(优势比，16.62；95%CI，5.39~51.24；P
BACKGROUND: Arrhythmogenic cardiomyopathy (ACM) is an inherited heart muscle disorder characterized by myocardial fibrofatty replacement and an increased risk of sudden cardiac death (SCD). Originally described as a right ventricular disease, ACM is increasingly recognized as a biventricular entity. We evaluated pathological, genetic, and clinical associations in a large SCD cohort.METHODS: We investigated 5205 consecutive cases of SCD referred to a national cardiac pathology center between 1994 and 2018. Hearts and tissue blocks were examined by expert cardiac pathologists. After comprehensive histological evaluation, 202 cases (4%) were diagnosed with ACM. Of these, 15 (7%) were diagnosed antemortem with dilated cardiomyopathy (n=8) or ACM (n=7). Previous symptoms, medical history, circumstances of death, and participation in competitive sport were recorded. Postmortem genetic testing was undertaken in 24 of 202 (12%). Rare genetic variants were classified according to American College of Medical Genetics and Genomics criteria.RESULTS: Of 202 ACM decedents (35.4 +/- 13.2 years; 82% male), no previous cardiac symptoms were reported in 157 (78%). Forty-one decedents (41/202; 20%) had been participants in competitive sport. The adjusted odds of dying during physical exertion were higher in men than in women (odds ratio, 4.58; 95% CI, 1.54-13.68; P=0.006) and in competitive athletes in comparison with nonathletes (odds ratio, 16.62; 95% CI, 5.39-51.24; P