Cardiovascular Disease Unit, IRCCS Ospedale Policlinico San Martino - IRCCS Italian Cardiovascular Network & Department of Internal Medicine, University of Genova, Italy (M.C., G.T.).
Cardiomyopathy Unit and Genetic Unit, Careggi University Hospital, Florence, Italy (C.F., F.M., I.O.).
Circ Heart Fail. 2020 Sep;13(9):e007230. doi: 10.1161/CIRCHEARTFAILURE.120.007230. Epub 2020 Sep 8.
Over the last 50 years, the epidemiology of hypertrophic cardiomyopathy (HCM) has changed because of increased awareness and availability of advanced diagnostic tools. We aim to describe the temporal trends in age, sex, and clinical characteristics at HCM diagnosis over >4 decades.
We retrospectively analyzed records from the ongoing multinational Sarcomeric Human Cardiomyopathy Registry. Overall, 7286 patients with HCM diagnosed at an age ≥18 years between 1961 and 2019 were included in the analysis and divided into 3 eras of diagnosis (<2000, 2000-2010, >2010).
Age at diagnosis increased markedly over time (40±14 versus 47±15 versus 51±16 years, <0.001), both in US and non-US sites, with a stable male-to-female ratio of about 3:2. Frequency of familial HCM declined over time (38.8% versus 34.3% versus 32.7%, <0.001), as well as heart failure symptoms at presentation (New York Heart Association III/IV: 18.1% versus 15.8% versus 12.6%, <0.001). Left ventricular hypertrophy became less marked over time (maximum wall thickness: 20±6 versus 18±5 versus 17±5 mm, <0.001), while prevalence of obstructive HCM was greater in recent cohorts (peak gradient >30 mm Hg: 31.9% versus 39.3% versus 39.0%, =0.001). Consistent with decreasing phenotypic severity, yield of pathogenic/likely pathogenic variants at genetic testing decreased over time (57.7% versus 45.6% versus 38.4%, <0.001).
Evolving HCM populations include progressively greater representation of older patients with sporadic disease, mild phenotypes, and genotype-negative status. Such trend suggests a prominent role of imaging over genetic testing in promoting HCM diagnoses and urges efforts to understand genotype-negative disease eluding the classic monogenic paradigm.
在过去的 50 年中，由于人们对肥厚型心肌病（HCM）的认识不断提高，以及先进诊断工具的普及，HCM 的流行病学发生了变化。我们旨在描述 40 多年来 HCM 诊断时年龄、性别和临床特征的时间趋势。
我们回顾性分析了正在进行的多国肌节性人类心肌病注册研究中的记录。共有 7286 名年龄≥18 岁的 HCM 患者在 1961 年至 2019 年期间被诊断为 HCM，分为 3 个诊断时代（<2000 年、2000-2010 年、>2010 年）。
诊断时的年龄随着时间的推移显著增加（<0.001，分别为 40±14 岁、47±15 岁和 51±16 岁），无论是在美国还是非美国地区，男女比例均稳定在约 3:2。随着时间的推移，家族性 HCM 的频率逐渐下降（<0.001，分别为 38.8%、34.3%和 32.7%），以及就诊时心力衰竭的症状（纽约心脏协会 III/IV 级：<0.001，分别为 18.1%、15.8%和 12.6%）。随着时间的推移，左心室肥厚程度逐渐减轻（最大壁厚度：<0.001，分别为 20±6 毫米、18±5 毫米和 17±5 毫米），而最近的队列中梗阻性 HCM 的患病率更高（峰值梯度>30 毫米汞柱：<0.001，分别为 31.9%、39.3%和 39.0%）。与表型严重程度降低一致，基因检测中致病性/可能致病性变异的检出率随着时间的推移而降低（<0.001，分别为 57.7%、45.6%和 38.4%）。
不断演变的 HCM 人群包括越来越多的年龄较大的散发性疾病、轻度表型和基因阴性患者。这种趋势表明，在促进 HCM 诊断方面，影像学的作用明显优于基因检测，并促使人们努力了解逃避经典单基因范式的基因阴性疾病。
