Anderson-Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies

Area of Science:

• Genetics and rare diseases
• Cardiology
• Lysosomal storage disorders

Background:

• Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disorder.
• Globotriaosylceramide accumulation causes multi-organ damage, with cardiovascular issues like arrhythmias being prominent.
• Arrhythmias in AFD significantly increase patient morbidity and mortality risk.

Purpose of the Study:

• To review current strategies for arrhythmic risk stratification in Anderson-Fabry disease.
• To explore diagnostic advancements and predictive markers for cardiac arrhythmias in AFD.
• To discuss current and future therapeutic approaches for managing arrhythmias in AFD.

Main Methods:

• Review of current literature on Anderson-Fabry disease and cardiac arrhythmias.
• Analysis of diagnostic techniques including echocardiography, cardiac MRI, and ECG monitoring.
• Evaluation of genetic/biochemical markers and therapeutic interventions like enzyme replacement therapy.

Main Results:

• Cardiovascular manifestations, especially arrhythmias, are a major concern in AFD.
• Advanced diagnostics aid in identifying arrhythmogenic substrates.
• Genetic and biochemical markers show potential for predicting arrhythmic risk.

Conclusions:

• Effective arrhythmic risk stratification in AFD requires a multidisciplinary approach.
• Personalized treatment strategies integrating diagnostics and therapeutics are crucial.
• Ongoing research is vital for improving outcomes in Anderson-Fabry disease patients with arrhythmias.