CMSR Veneto Medica, Via Vicenza 204, 36077, Altavilla Vicentina (VI), Italy.
J Cardiovasc Transl Res. 2009 Dec;2(4):392-7. doi: 10.1007/s12265-009-9135-4. Epub 2009 Oct 20.
Hypertrophic cardiomyopathy (HCM) is an epidemiologically relevant, worldwide spread condition which is frequently perceived as a rare disease. This misconception might be supported by some characteristics of HCM such as its incomplete penetrance and variable age at onset and by the fact that many patients remain asymptomatic for a long course of the disease and are thus unlikely to seek for medical evaluation. Multiple evidences suggest that early diagnosis of HCM is important, not only because it allows the patients to be addressed to appropriate diagnostic work-out and to adequate therapeutical options but because it may trigger the screening of family members with the potential of further, new diagnosis of HCM in previously unsuspected individuals. Increased awareness of the disease among physicians working in community-based hospitals and in outpatients facilities, and a facilitated communication and access to tertiary referral centers, will result into a wider knowledge of the spectrum of the disease, a better access to the state-of-the-art management options for patients, and to a more diffuse practice of genetic evaluation of HCM families.
肥厚型心肌病（HCM）是一种具有流行病学意义的、广泛存在的疾病，通常被认为是一种罕见疾病。这种误解可能是由于 HCM 的一些特征所致，如不完全外显率和发病年龄的可变性，以及许多患者在疾病的很长一段时间内无症状，因此不太可能寻求医疗评估。多项证据表明，HCM 的早期诊断很重要，不仅因为它可以使患者接受适当的诊断检查和治疗选择，还因为它可能引发对有潜在新诊断的 HCM 家族成员的筛查。提高社区医院和门诊设施中医生对该病的认识，以及促进与三级转诊中心的沟通和联系，将使更多人了解该病的范围，为患者提供更好的先进管理方案，并更广泛地对 HCM 家族进行遗传评估。
