田庄,李剑,吴炜,陈未,张抒扬,方全

• 1:中国医学科学院北京协和医学院北京协和医院心内科
• 2:中国医学科学院北京协和医学院北京协和医院血液内科

摘要(Abstract)：

目的探讨遗传性转甲状腺素蛋白淀粉样变(ATTR)心肌病的临床特点。方法本研究纳入13例通过组织活检、基因检测和超声心动图检查明确为遗传性ATTR心肌病的患者,同时纳入58例明确诊断为原发性淀粉样变(AL)心肌病患者作为对照。回顾性收集并分析以上患者的临床表现、实验室检查、心电图和超声心动图检查结果。结果 13例遗传性ATTR心肌病患者平均年龄26.0~62.0(47.0±11.0)岁,9例(69.2%)患者有家族史。与AL心肌病患者相比,遗传性ATTR心肌病患者病程较长17(14,27)个月,心脏受累症状不突出,主要表现为活动耐力减低;超声心动图主要表现为左心室肥厚但无扩大且收缩功能基本正常;遗传性ATTR心肌病患者更年轻[(47.0±11.0)岁比(57.0±10.0)岁,P<0.01];心电图低电压发生率较低(23.1%比55.2%,P<0.05);左心室间隔[17.0(16.0,19.0)mm比13.0(11.0,15.0)mm,P<0.001]及左心室后壁更厚[16.0(14.0,19.0)mm比12.0(11.0,14.0)mm,P<0.01];左心室舒张末内径较小[42.0(39.0,43.0)mm比46.0(41.0,49.0)mm,P<0.05]而收缩功能更好[左心室射血分数62.0%(53.0%,65.0%)比54.0%(44.0%,61.0%),P<0.05]。遗传性ATTR心肌患者心脏外受累主要表现为周围神经病变和慢性腹泻,肾、消化道和肝受累较少见;而AL心肌病患者则更多表现为肾、肝和胃肠道受累,周围神经病变和慢性腹泻少见。结论遗传性ATTR心肌病患者主要表现为左心室肥厚而收缩功能基本正常,心电图无高电压表现;常合并周围神经或者自主神经病变及家族聚集特点。

关键词(KeyWords)： 淀粉样变性;心肌病;遗传性;转甲状腺素蛋白

Abstract:

Keywords:

基金项目(Foundation):

作者(Author): 田庄,李剑,吴炜,陈未,张抒扬,方全

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