肥厚型心肌病 (HCM) 在普通人群中的发病率大约是 1/500,是引起儿童和 35 岁以下成人猝死的最常见原因。[1]Maron BJ, Olivotto I, Maron MS. The dilemma of left ventricular outflow tract obstruction and sudden death in hypertrophic cardiomyopathy: do patients with gradients really deserve prophylactic defibrillators? Eur Heart J. 2006;27:1895-1897.http://www.ncbi.nlm.nih.gov/pubmed/16818455?tool=bestpractice.com美国、日本和中国的患病率为 0.16%-0.29%。[7]Adabag AS, Kuskowski MA, Maron BJ. Determinants for clinical diagnosis of hypertrophic cardiomyopathy. Am J Cardiol. 2006;98:1507-1511.http://www.ncbi.nlm.nih.gov/pubmed/17126660?tool=bestpractice.com不同的发表文献报道的就诊平均年龄有所不同,但是在一项大规模社区采样的研究中,结果是 57 岁(16-87 岁)。[8]Maron BJ, Mathenge R, Casey SA, et al. Clinical profile of hypertrophic cardiomyopathy identified de novo in rural communities. J Am Coll Cardiol. 1999;33:1590-1595.http://www.ncbi.nlm.nih.gov/pubmed/10334429?tool=bestpractice.com该疾病为常染色体显性遗传病,无已知的性别倾向,但女性患者更容易漏诊,更有可能在较大年纪表现出纽约心脏病协会 (NYHA) Ⅲ/Ⅳ 级症状。[9]Olivotto I, Maron MS, Adabag AS, et al. Gender-related differences in the clinical presentation and outcome of hypertrophic cardiomyopathy. J Am Coll Cardiol. 2005;46:480-487.http://www.ncbi.nlm.nih.gov/pubmed/16053962?tool=bestpractice.com猝死最常见于年轻患者,而心力衰竭或卒中导致的死亡更多见于中老年患者。[10]Maron BJ, Bonow RO, Cannon RO, et al. Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology and therapy (2). N Engl J Med. 1987;316:844-852.http://www.ncbi.nlm.nih.gov/pubmed/3547135?tool=bestpractice.com总体上看,所有种族都可罹患该病。但心尖部心肌病在亚洲人中更常见。心尖 HCM 占到亚洲 HCM 患者的 15%-40%,而在非亚洲患者中仅占不到 5%。[11]Ho HH, Lee KL, Lau CP, et al. Clinical characteristics of and long-term outcome in Chinese patients with hypertrophic cardiomyopathy. Am J Med. 2004;116:19-23.http://www.ncbi.nlm.nih.gov/pubmed/14706661?tool=bestpractice.com[12]Kitaoka H, Doi Y, Casey SA, et al. Comparison of prevalence of apical hypertrophic cardiomyopathy in Japan and the United States. Am J Cardiol. 2003;92:1183-1186.http://www.ncbi.nlm.nih.gov/pubmed/14609593?tool=bestpractice.com