The Cardiovascular Phenotype in Fabry Disease: New Findings in the Research Field

Area of Science:

• Biochemistry
• Genetics
• Cardiology

Background:

• Fabry disease (FD) is a lysosomal storage disorder caused by alpha-galactosidase A (GAL) deficiency.
• Mutations in the galactosidase alpha gene (GLA) lead to globotriaosylceramide (Gb3) accumulation.
• Cardiovascular dysfunction is a major complication and cause of mortality in FD patients.

Purpose of the Study:

• To review the cardiovascular phenotype of Fabry disease.
• To discuss recent findings on molecular mechanisms contributing to cardiac cell damage in FD.
• To identify potential new therapeutic targets.

Main Methods:

• Literature review of studies on Fabry disease.
• Analysis of molecular mechanisms underlying cardiac pathology in FD.
• Discussion of current and emerging therapeutic strategies.

Main Results:

• FD exhibits significant cardiovascular involvement, often presenting as the primary clinical manifestation.
• Gb3 accumulation and other molecular pathways contribute to progressive cardiac damage.
• Current therapies focus on GAL activity restoration, but other mechanisms offer therapeutic potential.

Conclusions:

• Understanding the multifaceted molecular mechanisms of cardiac damage in FD is crucial.
• Targeting these mechanisms beyond GAL deficiency may lead to improved therapeutic outcomes for FD patients.
• Further research into novel therapeutic strategies is warranted.