肥厚型心肌病的遗传学考虑。
Genetic considerations in hypertrophic cardiomyopathy.
机构信息
Cardiovascular Division, Brigham and Women's Hospital, 75 Francis St, Boston, MA 02115, USA.
出版信息
Prog Cardiovasc Dis. 2012 May-Jun;54(6):456-60. doi: 10.1016/j.pcad.2012.03.004.
Abstract
Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy that develops in the absence of pressure overload or storage/infiltrative processes. Approximately 20 years ago, mutations in genes encoding sarcomere proteins were identified as the cause of HCM. Although there are limitations to current clinical application, genetic testing can identify the specific gene mutation responsible for causing HCM in patients and their family. This provides a definitive means to identify at-risk relatives, as well as new opportunities to study pathogenesis, and developing novel strategies for disease prevention and modification.
摘要
肥厚型心肌病（HCM）的特征是在没有压力超负荷或储存/浸润过程的情况下出现不明原因的左心室肥厚。大约 20 年前，人们发现编码肌节蛋白的基因突变是 HCM 的病因。尽管目前的临床应用存在局限性，但基因检测可以确定导致患者及其家族发生 HCM 的特定基因突变。这为确定高危亲属提供了一种明确的方法，也为研究发病机制以及开发疾病预防和治疗的新策略提供了新的机会。
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