Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease

Heart. 2024 May 23;110(12):846-853. doi: 10.1136/heartjnl-2023-323783.

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.

Keywords: Cardiomyopathy, Hypertrophic; Echocardiography; Genetics.

Publication types

  • Observational Study

MeSH terms

  • Adult
  • Fabry Disease* / complications
  • Fabry Disease* / epidemiology
  • Fabry Disease* / physiopathology
  • Female
  • Humans
  • Hypertrophy, Left Ventricular* / diagnosis
  • Hypertrophy, Left Ventricular* / epidemiology
  • Hypertrophy, Left Ventricular* / etiology
  • Hypertrophy, Left Ventricular* / physiopathology
  • Incidence
  • Male
  • Middle Aged
  • Prospective Studies
  • Risk Factors
  • Sex Factors
  • Time Factors
  • Young Adult