Related Experiment Video
Updated: Nov 19, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Characteristics of the Electrocardiogram in Japanese Fabry Patients Under Long-Term Enzyme Replacement Therapy
Satoshi Morimoto1, Ayumi Nojiri2, Eiko Fukuro1
1Division of Cardiology, Department of Internal Medicine, The Jikei University School of Medicine, Tokyo, Japan.
Insights
Shortened Pend-Q intervals are specific to Japanese Fabry patients. Long-term enzyme replacement therapy (ERT) showed prolonged QRS duration and QTc, indicating potential myocardial damage progression in specific patient groups.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Electrocardiogram (ECG) is crucial for identifying cardiac issues in heart diseases.
- Fabry disease, a genetic disorder, can manifest with cardiac complications.
- Enzyme replacement therapy (ERT) is a treatment for Fabry disease.
Purpose of the Study:
- To characterize ECG parameters in Japanese Fabry patients undergoing long-term ERT.
- To evaluate changes in atrio-ventricular conduction and ventricular repolarization during ERT.
- To identify specific ECG findings indicative of Fabry disease and its progression.
Main Methods:
- Analysis of ECGs from 40 Japanese Fabry patients (17 male, 23 female) before and after ERT.
- Calculation of PQ interval, corrected PQ, and Pend-Q for atrio-ventricular conduction.
- Assessment of QRS duration, QTc interval, Sokolow-Lyon index, and strain pattern.
Main Results:
- Baseline ECGs showed shortened PQ intervals and prolonged QTc in a subset of patients.
- The strain pattern was observed mainly in female patients, irrespective of left ventricular hypertrophy (LVH).
- Long-term ERT led to significant QRS duration prolongation in both genders and QTc prolongation in males.
- Subgroup analysis revealed QRS and QTc prolongation in male patients with LVH and female patients with classical mutations.
Conclusions:
- Shortened Pend-Q is a specific ECG finding in Japanese Fabry patients.
- A strain pattern without LVH in female patients may indicate Fabry disease.
- During ERT, prolonged QRS duration and QTc suggest advancing myocardial damage in specific male and female Fabry patient subgroups.
Abstract:
Objective: An electrocardiogram (ECG) is an important tool for demonstrating cardiac manifestations in various heart diseases. The present study clarified the characteristics of ECG parameters in Japanese Fabry patients under long-term enzyme replacement therapy (ERT). Methods: We analyzed the ECGs of 40 Fabry patients (male, n = 17; female, n = 23) before and after treatment with ERT. To evaluate the atrio-ventricular conduction, the PQ interval, corrected PQ and PQ minus P-wave in lead II (Pend-Q) were calculated. The QRS duration, QTc, Sokolow-Lyon index, and strain pattern were also examined. Results: At the baseline, the shortening of the PQ interval, corrected PQ and Pend-Q was identified in 7.5, 25.0, and 47.5% of cases, respectively. The prolongation of QRS duration and QTc was found in 7.5 and 40.0% of cases, respectively. The strain pattern was mainly identified in female patients, irrespective of left ventricular hypertrophy (LVH). During long-term ERT, the PQ interval, corrected PQ and Pend-Q did not change significantly. The QRS duration was significantly prolonged in both genders, whereas the QTc was significantly prolonged only in male patients. A subgroup analysis revealed that the prolongation of the QRS duration and QTc only occurred in male patients with LVH and only occurred in female patients with the classical type mutation. The prevalence of the strain was significantly increased only in male patients with LVH. Conclusions: These results suggest that the shortening of the Pend-Q is a specific finding in Japanese Fabry patients, and the strain pattern without LVH in female patients can be considered Fabry disease. During long-term ERT, prolongation of the QRS duration and QTc can indicate the progression of myocardial damage in male patients with LVH and in female patients with the classical type mutation.
More Related Videos
12:45Benefits of Cardiac Resynchronization Therapy in an Asynchronous Heart Failure Model Induced by Left Bundle Branch Ablation and Rapid Pacing
Published on: December 11, 2017
10:41Laser-Induced Action Potential-Like Measurements of Cardiomyocytes on Microelectrode Arrays for Increased Predictivity of Safety Pharmacology
Published on: September 13, 2022
Related Concept Videos
Electrocardiogram
Three major waveforms are present in a typical ECG recording: the P wave, the QRS complex, and...
Dysrhythmias V: Evaluating Dysrhythmias
Cardiomyopathy II: Dilated Cardiomyopathy
Pulse rhythm
Conversely, an irregular pulse pattern is termed dysrhythmia, stemming from disruptions in cardiac...
Myocarditis II: Clinical Features and Diagnostic Tests
Dysrhythmias III: Characteristics of Dysrhythmias