El Sayed Mohamed, Postema Pieter G, Datema Mareen, van Dussen Laura, Kors Jan A, Ter Haar Cato C, Bleijendaal Hidde, Galenkamp Henrike, van den Born Bert-Jan H, Hollak Carla E M, Langeveld Mirjam
Department of Internal Medicine, Division of Endocrinology and Metabolism, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Amsterdam Gastroenterology Endocrinology and Metabolism, Inborn Errors of Metabolism, 1105 AZ Amsterdam, The Netherlands.
Diagnostics (Basel). 2023 Jan 18;13(3):354. doi: 10.3390/diagnostics13030354.
Fabry disease (FD) is an X-linked, lysosomal storage disorder leading to severe cardiomyopathy in a significant proportion of patients. To identify ECG markers that reflect early cardiac involvement and disease progression, we conducted a long term retrospective study in a large cohort of FD patients. A total of 1995 ECGs from 133 patients with classical FD (64% females, 80% treated with enzyme replacement therapy), spanning 20 years of follow-up, were compared to ECGs from 3893 apparently healthy individuals. Generalized linear mixed models were used to evaluate the effect of age, FD and sex on: P-wave duration, PR-interval, QRS-duration, QTc, Cornell index, spatial QRS-T angle and frontal QRS-axis. Regression slopes and absolute values for each parameter were compared between FD patients and control subjects. At a younger age (<40 years), the Cornell index was higher and frontal QRS-axis more negative in FD patients compared to controls ( < 0.05). For the other ECG parameters, the rate of change, more than the absolute value, was greater in FD patients compared to controls ( < 0.05). From the fifth decade (men) or sixth (women) onwards, absolute values for P-wave duration, QRS-duration, QTc and spatial QRS-T angle were longer and higher in FD patients compared to control subjects. ECG abnormalities indicative of FD are age and sex dependent. Tracking the rate of change in ECG parameters could be a good way to detect disease progression, guiding treatment initiation. Moreover, monitoring ECG changes in FD can be used to evaluate the effectiveness of treatment.
法布里病（FD）是一种X连锁的溶酶体贮积症，在相当一部分患者中会导致严重的心肌病。为了确定反映早期心脏受累和疾病进展的心电图标志物，我们对一大群FD患者进行了一项长期回顾性研究。将133例经典型FD患者（64%为女性，80%接受酶替代疗法治疗）在20年随访期间的总共1995份心电图与3893名明显健康个体的心电图进行了比较。使用广义线性混合模型来评估年龄、FD和性别对以下指标的影响：P波时限、PR间期、QRS时限、QTc、康奈尔指数、空间QRS-T夹角和额面QRS轴。比较了FD患者和对照受试者之间每个参数的回归斜率和绝对值。在较年轻的年龄（<40岁），与对照组相比，FD患者的康奈尔指数更高，额面QRS轴更偏负（<0.05）。对于其他心电图参数，与对照组相比，FD患者的变化率（而非绝对值）更大（<0.05）。从第五个十年（男性）或第六个十年（女性）起，与对照受试者相比，FD患者的P波时限、QRS时限、QTc和空间QRS-T夹角的绝对值更长、更高。提示FD的心电图异常与年龄和性别有关。追踪心电图参数的变化率可能是检测疾病进展、指导开始治疗的好方法。此外，监测FD患者的心电图变化可用于评估治疗效果。
