Haghighat Leila, Connolly Andrew, Delling Francesca Nesta, Abraham Theodore Pravinchandra, Moffatt Ellen, Tseng Zian H
Division of Cardiology, Department of Medicine, University of California-San Francisco, San Francisco, 500 Parnassus Avenue, Box 1354, CA 94143-1354, USA.
Department of Pathology and Laboratory Medicine, University of California-San Francisco, San Francisco, CA, USA.
Europace. 2025 May 7;27(5). doi: 10.1093/europace/euaf088.
Incidence of sudden cardiac death (SCD) is 1%/year in cohorts with hypertrophic cardiomyopathy (HCM), but this estimate presumes arrhythmic cause and misses occult cases dying before diagnosis.
POST SCD (POstmortem Systematic InvesTigation of Sudden Cardiac Death) is a prospective cohort study using autopsy, clinical records, and toxicology to adjudicate arrhythmic or non-arrhythmic causes among presumed SCDs (pSCDs) meeting WHO criteria aged 0-90 years in San Francisco County. We included all incident cases 2/1/2011-3/1/2014 (n = 525) and approximately every third day 3/1/2014-9/1/2022 (n = 497) based on medical examiner call schedule. We identified HCM victims via three approaches: (i) pathology; (ii) echocardiogram [transthoracic echocardiogram (TTE)]; (iii) genetic criteria. Incidence calculations used county data and estimated HCM prevalence of 1:500 from studies of persons aged 23-35 years old. Of 1022 pSCDs [558 (54.6%) arrhythmic deaths] during the study period, 13 had HCM: 10 met pathology criteria; 2 via review of 203 TTEs (missed on initial report); 1 via genetic testing. Of these, 11 were arrhythmic deaths, yielding 1.3% burden of sudden death (pSCD) and 2% of arrhythmic death. Only 2 of 13 (15%) pSCDs with HCM had pre-mortem diagnosis. Incidence for persons with HCM 18-35 years old was 0.2% pSCDs/year and 0.1% SADs/year. pSCDs with HCM had a higher proportion of arrhythmic cause [11/13 (85%) vs. 547/1009 (54%), P = 0.03] than those without. pSCD burden due to HCM decreased with age (P = 0.003), highest among victims <35 years old, for whom HCM accounted for 7.1% of pSCD and 9.4% of arrhythmic death. Genetic testing of 317 consented pSCDs yielded pathogenic or likely pathogenic variants in 40% (2/5) and identified one additional case without clinical phenotype.
In this 11-year countywide post-mortem study, HCM meeting pathologic, clinical, or genetic criteria was associated with autopsy-confirmed arrhythmic cause of sudden death, accounting for 2% of SADs up to age 90, highest in cases <35 years old. Since 85% of cases were undiagnosed before pSCD, the true burden of HCM-related sudden death may be substantially underestimated.
肥厚型心肌病（HCM）患者队列中心脏性猝死（SCD）的发生率为每年1%，但这一估计假定为心律失常原因，且遗漏了在诊断前死亡的隐匿病例。
POST SCD（心脏性猝死尸检系统调查）是一项前瞻性队列研究，利用尸检、临床记录和毒理学来判定旧金山市0至90岁符合WHO标准的推定SCD（pSCD）中心律失常或非心律失常原因。我们纳入了2011年2月1日至2014年3月1日的所有新发病例（n = 525），以及根据法医呼叫时间表在2014年3月1日至2022年9月1日期间大约每三天的病例（n = 497）。我们通过三种方法识别HCM受害者：（i）病理学；（ii）超声心动图[经胸超声心动图（TTE）]；（iii）基因标准。发病率计算使用了县数据，并根据对23至35岁人群的研究估计HCM患病率为1:500。在研究期间的1022例pSCD中[558例（54.6%）为心律失常死亡]，13例患有HCM：10例符合病理学标准；2例通过回顾203份TTE（最初报告时遗漏）；1例通过基因检测。其中，11例为心律失常死亡，导致猝死（pSCD）负担为1.3%，心律失常死亡负担为2%。13例患有HCM的pSCD中只有2例（15%）有生前诊断。18至35岁HCM患者的发病率为每年0.2% pSCD和每年0.1% SAD。患有HCM的pSCD心律失常原因的比例[11/13（85%）对547/1009（54%），P = 0.03]高于未患HCM的患者。HCM导致的pSCD负担随年龄下降（P = 0.003），在<35岁的受害者中最高，HCM占该年龄段pSCD的7.1%和心律失常死亡的9.4%。对317例同意进行检测的pSCD进行基因检测，40%（2/5）产生了致病性或可能致病性变异，并发现了1例无临床表型的额外病例。
在这项为期11年的全县尸检研究中，符合病理学、临床或基因标准的HCM与尸检证实的心律失常性猝死原因相关，在90岁以下人群中占SAD的2%，在<35岁的病例中最高。由于85%的病例在pSCD前未被诊断，HCM相关猝死的真实负担可能被大幅低估。
