台湾高伤心肌病注册 (THIC) 的理由,目标和研究设计
Yen-Wen Wu1,2,3, Wen-Chung Yu2,4, Chung-Lieh Hung5,6
1Division of Cardiology, Cardiovascular Medical Center, and Department of Nuclear Medicine, Far Eastern Memorial Hospital, New Taipei City.
Acta Cardiologica Sinica
|January 29, 2026
概括
台湾多变性心肌病 (THIC) 登记处收集台湾多变性心肌病 (HCM) 和类似疾病的数据. 初步发现表明,家族病史是关键,但标准测试不能很好地区分这些情况.
科学领域:
- 心脏病学 心脏病学
- 遗传学 是一个遗传学.
- 罕见疾病 罕见疾病
背景情况:
- 台湾心肌缩症注册表 (THIC) 是台湾对心肌缩症 (HCM) 患者的国家注册表.
- 它旨在评估HCM的临床,遗传和生物化学特征,自然过程和结果,并模仿诸如法布里病 (FD) 和跨氨基酸心肌病变 (ATTR-CM) 等疾病.
- 该注册试图根据基因突变或临床表现在台湾患者身上识别独特的"红旗"迹象.
研究的目的:
- 系统地评估台湾的HCM和相关疾病的临床,遗传和生物化学特征.
- 在台湾人口中识别特定的诊断线索和"红旗"迹象.
- 了解这些条件的自然过程和长期结果.
主要方法:
- 一个观察项目,收集台湾HCM患者的前性和/或后性数据.
- 招募800名患有无法解释的左心室缩症 (LVH) 的个人,其中包括200名患有FD.
- 在5年时间内收集有关基线特征,实验室和成像结果,死亡率以及主要心血管,脑血管和脏不良事件的数据,并进行至少12个月的随访.
主要成果:
- 截至2025年3月15日,自2022年12月以来,13个中心注册了534名患者.
- 参与的患者包括284名HCM患者,227名FD患者和23名ATTR-CM患者.
- 家庭病史是一个重要的诊断线索,而常见的心声回声和实验室数据,包括N-终端亲脑尿素,并没有显著区分这些组.
结论:
- 该THIC注册表将提供关于台湾的HCM,FD和ATTR-CM的全面数据.
- 它提供了一个机会,以提高对这些疾病的临床表现和长期后果的理解.
- 该注册表将有助于识别台湾遗传背景下的LVH和临床事件的预测因子.
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