Cardiac device implantation and device usage in Fabry and hypertrophic cardiomyopathy

Orphanet J Rare Dis. 2022 Jan 6;17(1):6. doi: 10.1186/s13023-021-02133-4.


Background: Fabry disease (FD) is a treatable X-linked condition leading to progressive cardiac disease, arrhythmia and premature death. We aimed to increase awareness of the arrhythmogenicity of Fabry cardiomyopathy, by comparing device usage in patients with Fabry cardiomyopathy and sarcomeric HCM. All Fabry patients with an implantable cardioverter defibrillator (ICD) implanted in the UK over a 17 year period were included. A comparator group of HCM patients, with primary prevention ICD implantation, were captured from a regional registry database.

Results: Indications for ICD in FD varied with 72% implanted for primary prevention based on multiple potential risk factors. In FD and HCM primary prevention devices, arrhythmia occurred more frequently in FD over shorter follow-up (HR 4.2, p < 0.001). VT requiring therapy was more common in FD (HR 4.5, p = 0.002). Immediate shock therapy for sustained VT was also more common (HR 2.5, p < 0.001). There was a greater burden of AF needing anticoagulation and NSVT in FD (AF: HR 6.2, p = 0.004, NSVT: HR 3.1, p < 0.001).

Conclusion: This study demonstrates arrhythmia burden and ICD usage in FD is high, suggesting that Fabry cardiomyopathy may be more 'arrhythmogenic' than previously thought. Existing risk models cannot be mutually applicable and further research is needed to provide clarity in managing Fabry patients with cardiac involvement.

Keywords: Arrhythmia; Defibrillator; Fabry; Hypertrophic cardiomyopathy; Prognosis; Risk.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Arrhythmias, Cardiac
  • Cardiomyopathy, Hypertrophic* / therapy
  • Defibrillators, Implantable*
  • Fabry Disease*
  • Humans
  • Risk Factors
  • Tachycardia, Ventricular* / therapy