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.

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