ESCAPE-HCM 研究：肥厚型心肌病无症状患者筛查评估。
ESCAPE-HCM study: Evaluation of SCreening of Asymptomatic PatiEnts with Hypertrophic CardioMyopathy.
机构信息
Department of Clinical Genetics, Academic Medical Centre, Amsterdam, the Netherlands.
出版信息
Neth Heart J. 2007;15(6):216-20. doi: 10.1007/BF03085983.
Abstract
The ESCAPE-HCM study is a prospective followup study of asymptomatic mutation-carrying relatives of HCM patients aiming at optimising anamnestic and cardiological evaluation and surveillance for this group. All relatives undergo regular cardiological evaluation and risk status is prospectively estimated, according to known HCM-related risk factors for sudden cardiac death. (Neth Heart J 2007;15:216-20.).
摘要
ESCAPE-HCM 研究是一项针对肥厚型心肌病（HCM）患者无症状突变携带者的前瞻性随访研究，旨在优化该人群的病史和心血管评估及监测。所有亲属均接受定期心血管评估，并根据已知与 HCM 相关的心脏性猝死风险因素，前瞻性评估其风险状况。（Neth Heart J 2007；15：216-20.）
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The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.
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