Incidence and risk factors for development of left ventricular hypertrophy 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.