以肥厚型梗阻性心肌病为表现的Fabry病患者的临床特征和预后分析  

Clinical Features of Fabry Disease Manifested as Hypertrophic Obstructive Cardiomyopathy

作　　者：肖嫣[1] 孙洋[2] 田莉莉 王林平[1] 刘亚欣[1] 周宪梁[1] XIAO Yan;SUN Yang;TIANLi-li;WANG Lin-ping;LIU Ya-xinr;ZHOU Xian-liang(Department of Cardiovascular Diseases,Fuwai Hospital,National Center for Cardiovascular Disease,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100037,China;Department of Pathology,Fuwai Hospital,National Center for Cardiovascular Disease,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100037,China;Department of Ultrasonographic Image,Fuwai Hospital,National Center for Cardiovascular Disease,Chinese Academy of Medical Sciences and Peking Union Medical College,Beijing 100037,China)

机构地区：[1]中国医学科学院,北京协和医学院,国家心血管病中心,阜外医院心内科,北京市100037 [2]中国医学科学院,北京协和医学院,国家心血管病中心,阜外医院病理科,北京市100037 [3]中国医学科学院,北京协和医学院,国家心血管病中心,阜外医院超声影像科,北京市100037

出　　处：《中国分子心脏病学杂志》2021年第3期3923-3927,共5页Molecular Cardiology of China

基　　金：中央级公益性科研院所基本科研基金(2017-TZGG-08);中央高校基本科研业务费专项基金(3332019048);中国医学科学院临床与转化医学研究基金(2019XK320058)。

摘　　要：目的分析和总结以肥厚型梗阻性心肌病为表现的Fabry病患者的临床特征和预后。方法连续收集2018年1月至2020年7月在阜外医院确诊为Fabry病的患者,通过来我院复诊和/或电话回访获得患者随访资料。结果纳入Fabry病患者7例,发病年龄和确诊年龄分别为(40±7)岁和(50±5)岁;均因胸痛和/或中重度心力衰竭入院。其中3例合并先天性心脏病、2例累及主动脉瓣;7例患者均有双心室肥厚并表现为肥厚型梗阻性心肌病;6例有心脏传导系统疾病;2例升主动脉扩张。心脏磁共振检查提示下侧壁、室间隔及左心室前壁的肌壁内有延迟强化信号。组织病理电镜下心肌细胞及升主动脉平滑肌细胞内可见特征性的髓鞘样致密小体。3例应用法布赞或米格拉斯坦治疗。6例接受心肌部分切除术治疗;经(15±8)个月随访,左心室流出道压力阶差由(76±29)mmHg下降至(9±5)mmHg,纽约心功能稳定改善至Ⅰ级,Fabry稳定指数<20%;其中1例行异体肾移植术、1例发生症状性窦性心动过缓。1例未手术患者因心力衰竭反复住院。结论晚发双心室肥厚、心脏传导系统疾病、主动脉扩张和多系统受累为鉴别类似肥厚型梗阻性心肌病表型的Fabry病提供临床线索。心肌部分切除术可能是合并左心室流出道梗阻的Fabry病患者的有效治疗方式。Objective To analyze the clinical features of patients with Fabry disease manifested as hypertrophic obstructive cardiomyopathy.Methods Patients with Fabry disease in Fuwai Hospital from January 2018 to July 2020 were continuously collected.Follow-up data were obtained through consultation and/or by telephone.Results Seven patients with Fabry disease were enrolled.The average age of onset and diagnosis were(40±7)years and(50±5)years.Chest pain and diastolic insufficiency were first symptoms.Congenital heart disease and aortic valve disease were observed in 3 cases and 2 cases,respectively.Double-ventricular hypertrophy and left ventricular outflow obstruction were observed in all cases.Cardiac conduct system disease was observed in 6 cases and dilatation of the ascending aorta in 2 cases.Only 3 cases received Fabrazyme or Migalastat.Among them,6 cases underwent myocardial resection.During follow-up of(15±8)months,the pressure gradient of the outflow tract decreased from(76±29)mmHg to(9±5)mmHg in surgical cases,with the New York heart association class steadily to Grade I and the FASTEX value less than 20%.But one case underwent allogeneic kidney transplantation and another one developed symptomatic sinus bradycardia.The non-operated one was re-hospitalized for heart failure.Conclusion Late-onset biventricular hypertrophy,cardiac conduction system disease,aortic dilation,and multiple system involvement provide clinical clues for the identification of Fabry disease manifested as hypertrophic obstructive cardiomyopathy.Myocardial resection maybe an effective treatment for those with left ventricular outflow tract obstruction.

关 键 词：FABRY病 双心室肥厚 肥厚型心肌病 主动脉扩张 心肌切除术 

分 类 号：R542.2[医药卫生—心血管疾病]