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Sudden cardiac death and major arrhythmic events in patients with Fabry disease: Risk stratification in the French

Yassine Temmar1, Julie Proukhnitzky2, Nicolas Lamblin3

  • 1Assistance Publique-Hôpitaux de Paris (APHP), Département de Cardiologie, Hôpital Pitié-Salpêtrière, Paris, France.

Heart Rhythm
|May 16, 2026
PubMed

Insights

Fabry disease (FD) patients have a high incidence of arrhythmic events. Non-sustained ventricular tachycardia and age over 55 are key predictors of major arrhythmic events (MAE) in FD.

Area of Science:

  • Cardiology
  • Genetics
  • Pharmacology

Background:

  • Fabry disease (FD) is a rare X-linked genetic disorder caused by alpha-galactosidase deficiency.
  • Cardiovascular complications, including arrhythmias and conduction abnormalities, are the primary cause of mortality in FD patients.
  • Risk stratification for arrhythmic events in FD remains poorly understood.

Purpose of the Study:

  • To determine the incidence of arrhythmic events in FD patients.
  • To identify predictive factors for major arrhythmic events (MAE) in FD.
  • To develop a risk prediction model for MAE in FD.

Main Methods:

  • A retrospective, multicenter study of the French Heart Fabry cohort.
  • Inclusion of 160 adult FD patients, analyzing cardiovascular complications throughout their lives and during follow-up.
  • Definition of MAE as sudden cardiac death, sustained ventricular arrhythmia, high-degree AV block, or appropriate ICD therapy.

Main Results:

  • 43% of FD patients experienced arrhythmic and/or conduction disturbances during their lifespan.
  • Over 5 years of follow-up, 6.25% of patients experienced MAE.
  • Significant predictors of MAE included non-sustained ventricular tachycardia (HR=9.37) and age >55 years (HR=16.99).
  • A risk prediction model demonstrated good discriminative performance (C-index=0.82).

Conclusions:

  • The incidence of arrhythmic events is notably high in the studied FD cohort.
  • A validated risk prediction model for MAE has been developed.
  • This model has the potential to enhance preventive therapeutic strategies for FD patients.
Abstract

Keywords:
ArrhythmiaFabry diseasePrognosis stratificationRisk predictionSudden cardiac death

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