Diagnosis and Management of Cardiovascular Involvement in Fabry Disease

Area of Science:

• Genetics and rare diseases
• Cardiology
• Lysosomal storage disorders

Background:

• Fabry disease (FD) is an X-linked lysosomal storage disorder caused by GLA gene mutations.
• Cardiac involvement is a frequent and severe complication of FD, impacting quality of life and survival.
• The typical cardiac manifestation is nonobstructive hypertrophic cardiomyopathy with intramural fibrosis.

Purpose of the Study:

• To review the current understanding of cardiovascular involvement in Fabry disease.
• To highlight clinical and instrumental features of cardiac complications in FD.
• To discuss current cardiovascular management strategies and targeted therapies for FD.

Main Methods:

• Literature review of studies on Fabry disease and cardiovascular manifestations.
• Analysis of clinical data, diagnostic tools, and therapeutic approaches.
• Synthesis of current knowledge on cardiac involvement in FD.

Main Results:

• Cardiac involvement in FD commonly presents as left ventricular hypertrophy and fibrosis.
• Arrhythmias and heart failure are significant risks in patients with FD.
• Early diagnosis and intervention are key to managing cardiac complications.

Conclusions:

• Cardiovascular management in FD requires a comprehensive approach.
• Targeted therapies aim to slow disease progression and prevent irreversible organ damage.
• Further research is needed to optimize treatment strategies for cardiac manifestations in FD.