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肥厚型心肌病:病因、诊断与治疗。

Hypertrophic cardiomyopathy: etiology, diagnosis, and treatment.

作者信息

Ramaraj Radhakrishnan

机构信息

Department of Internal Medicine, University of Arizona College of Medicine, Tucson, Arizona 85724, USA.

出版信息

Cardiol Rev. 2008 Jul-Aug;16(4):172-80. doi: 10.1097/CRD.0b013e318178e525.

DOI:10.1097/CRD.0b013e318178e525
PMID:18562807
Abstract

Hypertrophic cardiomyopathy (HCM) is a disease characterized by primary hypertrophy of the left (and sometimes right) ventricle. The clinical manifestations of the disease are dyspnea, angina, and a continuum encompassing lightheadedness, presyncope, syncope, and sudden death. Although HCM is often caused by an identifiable mutation in a gene coding for a sarcomeric protein and inherited in an autosomal-dominant pattern, many patients do not have any relatives in whom the disease is manifest. The prevalence of HCM is estimated to be 0.2%, with nearly 600,000 Americans affected. This limited exposure of clinicians to HCM understandably accounts for the uncertainty that prevails regarding this disease and its management.

摘要

肥厚型心肌病(HCM)是一种以左心室(有时也包括右心室)原发性肥厚为特征的疾病。该疾病的临床表现包括呼吸困难、心绞痛,以及一系列从轻头晕、先兆晕厥、晕厥到猝死的症状。尽管HCM通常由编码肌节蛋白的基因中可识别的突变引起,并以常染色体显性模式遗传,但许多患者并没有患病的亲属。据估计,HCM的患病率为0.2%,近60万美国人受其影响。临床医生对HCM的接触有限,这就不难解释为什么关于这种疾病及其管理存在普遍的不确定性。

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