Early cardiovascular remodelling in Fabry disease

Area of Science:

• Cardiology
• Genetics
• Vascular Biology

Background:

• Fabry disease (FD) is a rare X-linked genetic disorder.
• Lysosomal α-galactosidase A deficiency causes FD, leading to cardiovascular remodelling.
• Early detection of FD's systemic impact is crucial.

Purpose of the Study:

• To assess cardiac, vascular, and microvascular status in FD patients without left ventricular hypertrophy (LVH).
• To identify early signs of FD in asymptomatic mutation carriers.
• To evaluate cardiovascular health in individuals with genetic mutations for FD.

Main Methods:

• Echocardiography, carotid ultrasound, and endothelial flow-mediated dilatation (FMD) were performed on 19 FD mutation carriers (FDMC) and 19 controls.
• Nailfold capillaroscopy (NFC) assessed microvascular changes.
• Subjects were matched for age, sex, BMI, and cardiovascular risk factors.

Main Results:

• FDMC patients showed impaired systolic myocardial velocity and longitudinal strain.
• Elevated E/E' and intima-media thickness indicated cardiac and vascular changes.
• Reduced FMD and atypical capillaries on NFC demonstrated macrovascular and microvascular dysfunction.

Conclusions:

• Fabry disease affects cardiac, macrovascular, and microvascular systems early in its progression.
• These cardiovascular and microvascular alterations are detectable in asymptomatic FD mutation carriers without LVH.
• Early-stage FD involves progressive systemic damage, highlighting the need for proactive monitoring.