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Early cardiovascular remodelling in Fabry disease

Luca Costanzo1, Sergio Buccheri, Piera Capranzano

  • 1Department of "Medical and Pediatric Sciences", University of Catania, Catania, Italy.

Journal of Inherited Metabolic Disease
|April 26, 2013
PubMed

Insights

Fabry disease (FD) impacts cardiac and vascular systems early, even in mutation carriers without left ventricular hypertrophy (LVH). This study reveals cardiac, macrovascular, and microvascular changes in asymptomatic FD patients.

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.
Abstract

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