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HCM is a relatively common inherited heart disease with diverse and complex phenotypic and genetic expression and clinical course, worldwide in its distribution, affecting both sexes and many races, cultures, and ethnicities.HCM i s now 6 0 year s old since the original pathologic description by Teare and the first comprehensive clinical description by the Braunwald group in the early 1960s.It is now diagnosed with increasing frequency at virtually any time in life from infancy to advanced age.Estimated prevalence is 1:500 in the general population based on the disease phenotype, and higher (1:200) accounting for familial transmission, subclinical cases, and pathogenic sarcomere mutations, inferring that 750,000 or more Americans may be affected by HCM. However, only about 100,000 patients are identified clinically,suggesting that HCM is underdiagnosed, and cardiologists may be exposed to only a small proportion of patients within the broad disease spectrum (“tip of the iceberg”phenomenon).
HCM是一种较常见的遗传性心脏病,表型、基因表达及临床过程多样复杂,全世界分布,男女及许多人种、文化和种族均可受累。自20世纪60年代初Teare最初对HCM的病理描述和Braunwald小组首次全面的临床描述以来已有60年。从婴儿期到高龄,几乎在生命的任何时间都可被诊断为HCM,随着年龄增长诊断率越高。根据疾病表型,一般人群的估计患病率为1:500,考虑到家族传播、亚临床病例和致病性肌节突变,患病率应更高(1:200),推断≥75万的美国人可能受到HCM的影响。然而,临床上仅确诊约10万患者,提示HCM诊断不足,可能只有疾病谱中的一小部分患者寻求心脏病专家的帮助(“冰山一角”现象)。
最后编辑于 2022-10-09 · 浏览 532