Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia.
Tufts Medical Center and School of Medicine, Boston, Massachusetts.
J Am Coll Cardiol. 2015 Mar 31;65(12):1249-1254. doi: 10.1016/j.jacc.2015.01.019.
Hypertrophic cardiomyopathy (HCM) is an important genetic heart muscle disease for which prevalence in the general population has not been completely resolved. For the past 20 years, most data have supported the occurrence of HCM at about 1 in 500. However, the authors have interrogated a number of relevant advances in cardiovascular medicine, including widespread fee-for-service genetic testing, population genetic studies, and contemporary diagnostic imaging, as well as a greater index of suspicion and recognition for both the clinically expressed disease and the gene-positive-phenotype-negative subset (at risk for developing the disease). Accounting for the potential impact of these initiatives on disease occurrence, the authors have revisited the prevalence of HCM in the general population. They suggest that HCM is more common than previously estimated, which may enhance its recognition in the practicing cardiovascular community, allowing more timely diagnosis and the implementation of appropriate treatment options for many patients.
肥厚型心肌病（HCM）是一种重要的遗传性心肌疾病，其在普通人群中的患病率尚未完全确定。在过去的 20 年中，大多数数据都支持 HCM 的发病率约为每 500 人中 1 例。然而，作者调查了心血管医学的一些相关进展，包括广泛的收费基因检测、人群遗传研究和当代诊断成像，以及对临床表达疾病和基因阳性表型阴性亚组（有发展为疾病的风险）的更高怀疑和识别指数。考虑到这些举措对疾病发生的潜在影响，作者重新审视了普通人群中 HCM 的患病率。他们认为 HCM 比以前估计的更为常见，这可能会提高其在心血管实践社区中的认识，从而使更多的患者能够及时得到诊断，并实施适当的治疗选择。
