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摘要: 目的 通过分析11例误诊为肥厚型心肌病的法布雷病患者的临床特征，为临床医生诊断法布雷病提供帮助，以减少漏诊和误诊。方法 选取本中心自2021年以来收治的误诊为肥厚型心肌病的11例法布雷病患者。收集患者的一般临床资料、心电图、心脏彩色超声、心脏磁共振等指标，总结分析患者的临床特征。结果 11例患者中受累脏器均≥2个，心电图以ST段及T波改变最为常见，心脏彩超提示心肌厚度≥2 cm且合并右心室肥厚的比例较高，心脏磁共振均可见延迟强化，诊断延误时间平均10.5年。同时发现2个新突变位点。结论 法布雷病表现多样，诊断延误时间较长。多器官受累、心肌明显增厚且合并右心室肥厚等临床特征可以提供诊断线索。Abstract: Objective To analyze the clinical characteristics of 11 patients with Fabry disease misdiagnosed as hypertrophic cardiomyopathy, aiming to assist clinical physicians in diagnosing Fabry disease to reduce underdiagnosis and misdiagnosis.Methods Eleven patients with Fabry disease misdiagnosed as hypertrophic cardiomyopathy, admitted to our center since 2021, were selected. General clinical data, electrocardiogram, cardiac ultrasound, cardiac magnetic resonance, and other indicators were collected to summarize and analyze the clinical characteristics of the patients.Results In all 11 patients, two or more organs were involved. ST-segment and T-wave changes were most common on electrocardiogram. A high proportion of patients had myocardial thickness ≥2 cm and concurrent right ventricular hypertrophy, as shown by cardiac ultrasound. Delayed enhancement was observed on cardiac magnetic resonance. The average diagnostic delay was 10.5 years. Two new mutation sites were identified.Conclusion Fabry disease presents with diverse manifestations, and patients often experience delayed diagnosis. Clinical features such as multi-organ involvement, marked myocardial thickening, and combined right ventricular hypertrophy may provide diagnostic clues.
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Key words:
- Fabry disease /
- cardiac hypertrophy /
- α-galactosidase /
- enzyme replacement therapy
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表 1 患者临床资料
Table 1. Clinical characteristics of patients
家系 患者 性别 年龄/岁 延误诊断时间/年 α-GalA活性/(μmol/L/h) Lyso-GL-3浓度/(ng/mL) 心脏 肾脏 神经 眼睛 皮肤 消化道 听力 1 1-1 男 38 7 0.58 9.37 + + + + + - + 1-2 女 68 20 0.81 3.72 + + - - - - - 1-3 男 50 3 0.29 15.63 + + - - - - - 1-4 男 47 9 0.34 7.51 + - - - - - + 2 2-1 女 65 20 0.59 11.57 + + + - - - - 3 3-1 男 51 10 0.16 33.7 + + - + + - - 4 4-1 男 58 11 1.24 4.09 + - + - - + - 5 5-1 女 58 3 0.89 13.08 + - + - - - - 6 6-1 女 54 13 0.86 9.74 + + + + + - - 7 7-1 女 59 11 1.74 2.25 + + - - - - - 8 8-1 男 52 9 0.88 60.38 + + + - - + - 
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表 2 患者基因突变信息
Table 2. Gene mutation information
家系 突变位点 基因亚区 核苷酸变化 突变类型 1 c.902G>A Exon6 p.Arg301Gln 错义突变 2 c.334C>T Exon2 p.Arg112Cys 错义突变 3 c.486G>C Exon3 p.Trp162Cys 错义突变 4 IVS4+919G>A Intron4 剪切突变 5 c.547+2T>A Intron3 剪切突变 6 c.748C>A Exon5 p.Gln250Lys 错义突变 7 c.770C>T Exon5 p.Ala257Val 错义突变 8 c.605G>A Exon4 p.Cys202Tyr 错义突变
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| 引用本文: |
李冠男, 吴韩, 李苒, 等. 法布雷病导致的心肌肥厚特征分析[J]. 临床心血管病杂志, 2024, 40(11): 929-932. doi: 10.13201/j.issn.1001-1439.2024.11.013
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| Citation: |
LI Guannan, WU Han, LI Ran, et al. Characterization of myocardial hypertrophy due to Fabry disease[J]. J Clin Cardiol, 2024, 40(11): 929-932. doi: 10.13201/j.issn.1001-1439.2024.11.013
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