Cardiac phenotype of Fabry Disease

Abstract

Clinical case demonstrates a cardiovascular phenotype of Fabry disease — rare inherited disorder, linked with female sex. Clinically manifest Fabry disease is described in female patient with paroxysmal atrial fibrillation. The specifics of differential diagnostics described, as of management, and indications for genetic diagnostics and prescription of genotype-specific enzyme replacement therapy.

Keywords

• fabry disease
• atrial fribrillation
• ecg
• hypertrophic cardiomyopathy