JACC:携带FBN1致病性变异马凡综合征患者的主动脉风险研究

2020-02-28 不详 MedSci原创

马凡综合征患者的主动脉风险尚未评估,FBN1基因的致病性变异也未被证实。本研究的目的旨在评估Marfan综合征患者的主动脉风险,以及FBN1基因的致病性变异与主动脉根部直径的相关性。本研究纳入分析了包含FBN1基因的致病性变异的954名患者(女性占54%,平均年龄23岁),在长达9.1年时间的随访期间,142名患者接受了预防性的主动脉根部手术,5名患有A型主动脉夹层,12名死亡。当主动脉根部直径&

马凡综合征患者的主动脉风险尚未评估,FBN1基因的致病性变异也未被证实。本研究的目的旨在评估Marfan综合征患者的主动脉风险,以及FBN1基因的致病性变异与主动脉根部直径的相关性。

本研究纳入分析了包含FBN1基因的致病性变异的954名患者(女性占54%,平均年龄23岁),在长达9.1年时间的随访期间,142名患者接受了预防性的主动脉根部手术,5名患有A型主动脉夹层,12名死亡。当主动脉根部直径<50 mm时,主动脉夹层的风险会较低,其中有3名患者发生了A型主动脉夹层,这3名患者均无主动脉夹层家族史。另外,该人群中的B型主动脉夹层发生率为0.5个/1000人年。

研究结果显示,在接受β受体阻滞剂治疗并限制剧烈运动的FBN1致病性变异患者中,当最大主动脉直径小于50 mm时,主动脉风险仍然较低,B型主动脉夹层与A型的风险相似。

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    2020-06-15 cnxcy
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    2021-01-30 hbwxf
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