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Original research
Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease
  1. Emanuele Monda1,2,
  2. Athanasios Bakalakos2,3,
  3. Robin Lachmann4,
  4. Petros Syrris5,
  5. Giuseppe Limongelli6,
  6. Elaine Murphy4,
  7. Derralynn Hughes7,
  8. Perry Mark Elliott8
  1. 1Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Napoli, Italy
  2. 2University College London, London, UK
  3. 3St Bartholomew’s Hospital, London, UK
  4. 4National Hospital for Neurology and Neurosurgery, London, UK
  5. 5Institute of Cardiovascular Sciences, University College London, London, UK
  6. 6Scienze Cardiotoraciche e Respiratorie, Seconda Università di Napoli, Napoli, Italy
  7. 7Lysosomal Storage Disorder Unit, Royal Free Hospital, London, UK
  8. 8Cardiology, University College London, London, UK
  1. Correspondence to Dr Emanuele Monda, Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Napoli 80131, Italy; emanuelemonda{at}me.com

Abstract

Background Left ventricular hypertrophy (LVH) is the principal cardiac manifestation of Fabry disease (FD). This study aimed to determine the incidence and predictors of LVH development in a contemporary cohort of patients with FD and no LVH at baseline evaluation.

Methods Consecutively referred adult (aged ≥16 years) patients with FD were enrolled into an observational cohort study. Patients were prospectively followed in a specialist cardiomyopathy centre and the primary endpoint was the first detection of LVH (left ventricular mass index (LVMi) ≥115 g/m2 in men and ≥95 g/m2 in women).

Results From a cohort of 393 patients, 214 (aged 35.8±13.8 years; 61 (29%) males) had no LVH at first evaluation. During a median follow-up of 9.4 years (IQR 4.7–12.7), 55 patients (24.6%) developed LVH. The estimated incidence of LVH was 11.3% (95% CI 6.5% to 16.1%) at 5 years, 29.1% (95% CI 21.5% to 36.7%) at 10 years and 45.0% (95% CI 33.8% to 62.4%) at 15 years of follow-up. On multivariable analysis, independent predictors for LVH development were age (HR 1.04 (95% CI 1.02 to 1.06) per 1-year increase, p<0.001), male sex (HR 2.90 (95% CI 1.66 to 5.09), p<0.001) and an abnormal ECG (HR 3.10 (95% CI 1.72 to 5.57), p<0.001). The annual rate of change in LVMi was +2.77 (IQR 1.45–4.62) g/m2/year in males and +1.38 (IQR 0.09–2.85) g/m2/year in females (p<0.001).

Conclusions Approximately one-quarter of patients with FD developed LVH during follow-up. Age, male sex and ECG abnormalities were associated with a higher risk of developing LVH in patients with FD.

  • Cardiomyopathy, Hypertrophic
  • Genetics
  • Echocardiography

Data availability statement

Data are available upon reasonable request.

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Data availability statement

Data are available upon reasonable request.

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Footnotes

  • X @ath_bakalakos, @glimongelli

  • Contributors EMo and PME contributed to the conception or design of the work. EMo, AB, RL and PS contributed to the acquisition, analysis or interpretation of data for the work. EMo drafted the manuscript. AB, RL, PS, GL, EMu, DH and PME critically revised the manuscript. All authors gave final approval and agreed to be accountable for the overall content of the work, ensuring integrity and accuracy. EMo and PME act as guarantors.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient and public involvement Patients and/or the public were not involved in the design, or conduct, or reporting, or dissemination plans of this research.

  • Provenance and peer review Not commissioned; externally peer reviewed.

  • Supplemental material This content has been supplied by the author(s). It has not been vetted by BMJ Publishing Group Limited (BMJ) and may not have been peer-reviewed. Any opinions or recommendations discussed are solely those of the author(s) and are not endorsed by BMJ. BMJ disclaims all liability and responsibility arising from any reliance placed on the content. Where the content includes any translated material, BMJ does not warrant the accuracy and reliability of the translations (including but not limited to local regulations, clinical guidelines, terminology, drug names and drug dosages), and is not responsible for any error and/or omissions arising from translation and adaptation or otherwise.