Liping Zheng,1,* Lirong Lin,2 Zhiwei Wu,1,* Shuzhen Chen,1 Chunfa Weng,1 Junwei Huang,1 Meixiang Xie,3 Jianfang Huang,4 Jinzao Chen1,* 

1Department of Cardiology, The First Hospital of Putian City, Putian, Fujian, People’s Republic of China; 2Department of Cardiology, Fuzhou University Affiliated Provincial Hospital, Fuzhou, Putian, Fujian, People’s Republic of China; 3Department of Ultrasonography Lab, The First Hospital of Putian City, Putian, Fujian, People’s Republic of China; 4Department of Medical Imaging, The First Hospital of Putian City, Putian, Fujian, People’s Republic of China

*These authors contributed equally to this work

Correspondence: Jinzao Chen, Department of Cardiology, The First Hospital of Putian City, No. 449, Nanmen West Road, Chengxiang District, Putian, Fujian, 351100, People’s Republic of China, Tel +86-13950793989, Fax +86-0594-2330980, Email chen5858@sina.com
摘要

目的

法布里病与肥厚型心肌病均为致左心室肥厚的遗传性心血管疾病，双基因突变致两者共病的情况临床罕见。本研究旨在探讨 GLA 与 MYH7 双基因突变相关 FD 合并 HCM 患者的临床特征、诊断路径及个体化治疗策略，为复杂性心肌病的精准诊疗提供临床依据，强调综合基因检测的核心价值。

方法 1 例因反复胸闷、气促就诊的 40 岁汉族女性患者，有左心室肥厚家族史。完善相关检查：超声心动图、心电图、心脏磁共振成像（cardiac magnetic resonance imaging, CMR）评估心脏结构与功能；二代基因测序技术行全外显子测序明确突变类型；α- 半乳糖苷酶 A（α-galactosidase A, α-Gal A）活性检测辅助 FD 确诊。基因检测证实 GLA 基因 c.640-801G > A 杂合致病突变及 MYH7 基因 c.2141T>C (p.Leu714Pro) 杂合临床意义未明突变。采用多学科协作治疗：药物治疗予利伐沙班抗凝、沙库巴曲 缬沙坦改善心室重构、比索洛尔控制心率、螺内酯联合托拉塞米减轻容量负荷；外科手术矫正左心室流出道梗阻。酶替代治疗（enzyme replacement therapy, ERT）针对 FD 病因；

结果 治疗 3 个月后，患者临床症状明显缓解、运动耐量提升，生活质量显著改善等。