Association between arrhythmias and myocardial mass with the presence of fibrosis in a cohort of patients with Fabry disease

Abstract The presence of myocardial fibrosis is a marker of advanced disease in Fabry disease. A retrospective, transversal analysis was performed from a unicentric cohort. Clinical, electrical and imaging parameters were tested for their association with fibrosis. The study population consisted of fifteen patients (mean age 44.8). We found a statistically significant association between fibrosis, indexed myocardial mass and interventricular septum (IVS) thickness. Although not statistically significant, a tendency of association between the fibrosis and age, NT-proBNP, QRS duration, ventricular extrasystolia, supraventricular tachycardia and atrial fibrillation was observed. Ventricular arrhythmias or syncope happened only in patients with fibrosis. T wave depth and QTc duration were not associated with fibrosis. Myocardial fibrosis in fabry disease Absence of fibrosis (N=6) Fibrosis (N=9) P Age (Years) 51.3 (16.4) 55.8 (12.9) 0.64 Females (%) 3 (50%) 5 (55%) 1 NT-proBNP (ng/L) 294 (374) 1334 (1663) 0.14 IVS thickness (MRI, mm) 13.5 (4.3) 22.8 (10) 0.02 Indexed myocardial mass (echocardiography, g/m2) 108 (39.7) 206 (85.3) 0.03 PR segment duration (mseg) 145 (25.1) 171 (41.8) 0.21 Presence of negative T wave (yes/no) 5 (83%) 8 (89%) 1 Maximum depth of T wave (mV) 6.5 (6.8) 4.2 (3.2) 0.86 QTc duration (mseg) 426 (24) 423 (28) 0.72 QRS duration (mseg) 94.7 (15.3) 113.3 (26.5) 0.11 Supraventricular extrasistolia (number/day) 833 (1413) 769 (871) 0.88 Ventricular extrasistolia (number/day) 280 (605) 1247 (3079) 0.16 Supraventricular tachycardia (yes/no) 0 (0%) 3 (37.5%) 0.23 Atrial fibrillation (yes/no) 1 (17%) 4 (44%) 0.58 Ventricular tachycardia (yes/no) 0 (0%) 2 (22%) 0.49 Sincope (yes/no) 0 (0%) 1 (11%) 1 Results are presented as average and standard deviation for quantitative variables (comparisons with Wilcoxon test) and as a number of patients and proportion for qualitative variables (comparison with Fisher test). Conclusions Reduction of fibrosis formation could be a target to prevent the development of arrhythmias in FD. Increased myocardial mass and hypertrophy, derived from glycosphingolipids accumulation, is associated with fibrosis generation; treatments targeting myocardial mass could affect the presence of fibrosis.