JACC很大样本肥厚心肌病注册:36%有肌节蛋白基因突变

2019-11-25 xujing 中国循环杂志

JACC发表全球全球最大规模的肥厚性心肌病注册研究数据提示,36%患者存在心肌肌节蛋白基因突变,心肌肌节蛋白基因突变阳性和突变阴性的病变特点不同。研究者发现,肌节突变阳性患者更有可能出现室间隔反曲形态,纤维化较多,但静息性梗阻较少。肌节突变阴性者更易出现基底间隔肥大,但纤维化较少。研究者首次将高科技成像、基因分析和生物标志物数据与传统临床信息相结合,以便于对肥厚型心肌病进行最复杂的分析。18%的患

JACC发表全球全球最大规模的肥厚性心肌病注册研究数据提示,36%患者存在心肌肌节蛋白基因突变,心肌肌节蛋白基因突变阳性和突变阴性的病变特点不同。

研究者发现,肌节突变阳性患者更有可能出现室间隔反曲形态,纤维化较多,但静息性梗阻较少。

肌节突变阴性者更易出现基底间隔肥大,但纤维化较少。



研究者首次将高科技成像、基因分析和生物标志物数据与传统临床信息相结合,以便于对肥厚型心肌病进行最复杂的分析。

18%的患者静息左室流出道(LVOT)梯度≥30 mmHg。36%的人有心肌肌节蛋白基因突变,50%有心肌纤维化。

该组患者具有低风险肥厚型心肌病的特点,93%没有或只有轻微的功能受限。

研究纳入2755名肥厚型心肌病患者,平均年龄(49±11)岁,71%为男性,平均ESC危险评分为(2.48±0.56)分。

研究还在进行中,研究者称,进一步的随访将有助于更好地了解亚组特点,并开发一个包含所有疾病信息的风险预测模型。

来源:Stefan Neubauer, et al. Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry. Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry. J Am Coll Cardiol, 2019, 74: 2333.

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    2020-03-05 hbwxf
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    2020-07-31 zhzhxiang
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    2019-11-27 zhyy93
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