Cardiovascular involvement in patients with Fabry disease

Aim . Retrospective analysis of cardiovascular involvement in a patient with Fabry disease. Material and methods . This retrospective assessment included 34 cases of Fabry disease (men, 64,7%). The median age of Fabry patients was 43,5 (32,8; 57) years. Results . Cardiac involvement was detected in 70,6% of patients. Acute cerebro-vascular events were noted in 23,5% of patients aged 32,5 (25,3; 51,5) years. Kidney damage was detected in 82,4% of patients, while hemodialysis was performed in 14,7% of patients. Among 24 patients with Fabry disease with cardiac damage, heart failure was diagnosed in 37,5% of patients. Simpson’s left ventricular (LV) ejection fraction (EF) was 60 (52,6; 66,7)%. LVEF >50% was detected in 83,3% of patients, LVEF of 40-50% — in 16,7% of patients. LV wall thickening was noted in 83,3% of patients, of which 58,3% had LV wall thickness ≥1,5 cm. Small pericardial effusion was detected in 12,5% of patients. LV diastolic dysfunction was detected in 45,8% of patients. Sinus bradycardia was detected in 41,7% of patients. Short PQ interval was detected in 25% of patients, while Wolff-Parkinson-White syndrome was detected in 8,3%. Conclusion . Cardiac involvement with wall thickening, sinus bradycardia and atrioventricular conduction disorders are frequent manifestations in patients with Fabry disease. Early detection of cardiac involvement and prevention of cardiac events are important to ensure the effectiveness of treatment and improve the quality of life of patients.