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Incidence and risk factors for development of left ventricular hypertrophy in Fabry disease
Emanuele Monda1,2, Athanasios Bakalakos2,3, Robin Lachmann4
1Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Napoli, Italy emanuelemonda@me.com.
Insights
Approximately one-quarter of Fabry disease patients developed left ventricular hypertrophy over time. Age, male sex, and abnormal ECGs predict this cardiac complication in Fabry disease.
Area of Science:
- Cardiology
- Genetics
- Internal Medicine
Background:
- Left ventricular hypertrophy (LVH) is a primary cardiac complication in Fabry disease (FD).
- Understanding LVH incidence and predictors in FD is crucial for patient management.
- This study focuses on a contemporary cohort without baseline LVH.
Purpose of the Study:
- To determine the incidence of left ventricular hypertrophy (LVH) in adult patients with Fabry disease (FD).
- To identify predictors of LVH development in a cohort of FD patients without baseline LVH.
- To analyze the rate of change in left ventricular mass index (LVMi) over time.
Main Methods:
- An observational cohort study of adult patients (≥16 years) with FD was conducted.
- Patients were prospectively followed in a specialist cardiomyopathy center.
- The primary endpoint was the first detection of LVH (LVMi ≥115 g/m² in men, ≥95 g/m² in women).
Main Results:
- Of 214 patients without baseline LVH, 55 (24.6%) developed LVH during a median 9.4-year follow-up.
- Incidence rates at 5, 10, and 15 years were 11.3%, 29.1%, and 45.0%, respectively.
- Independent predictors of LVH included older age, male sex, and abnormal ECGs. Annual LVMi increase was higher in males than females.
Conclusions:
- Nearly a quarter of Fabry disease patients developed left ventricular hypertrophy during the study period.
- Age, male sex, and electrocardiogram abnormalities are significant risk factors for LVH development in FD.
- These findings highlight the importance of regular cardiac monitoring in FD patients.
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.
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