Cardiac magnetic resonance phenotypes and cardiovascular prognosis in classical vs cardiac variant of Fabry disease

Abstract Funding Acknowledgements Type of funding sources: None. Background Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency/absence alfa-galattosidase A enzyme activity. More than 1000 GLA gene mutations have been identified be causative classical or late-onset clinical phenotype. Cardiac variants (p.N215S, p.F113L and IVS4+919G>A) cause predominant cardiac involvement with minimal systemic manifestations compared phenotype.1 magnetic resonance (CMR) widely used assess FD involvement, thanks its accuracy in quantification left ventricular mass the possibility perform non-invasive tissue characterization.2 Since main morbidity mortality,3 CMR findings play prognostic role FD. Purpose aims this study were: 1) compare phenotypes patients variant disease; 2) parameters these two groups patients. Methods population included 128 (classical variant: 69%, 31%). Clinical characteristics were between variant. CV events during follow-up abstracted from patients’ records only first event after was for survival analysis. The composite endpoint defined as development one following events: a) sustained non-sustained tachycardia, b) bradyarrhythmias requiring pacing, c) heart failure hospitalization, d) atrial fibrillation, e) myocardial infarction f) all-cause mortality. Results variant, younger (39 [26–53] vs 46 [37–57], p = 0,050), more severe according Mainz Severity Score index (MSSI: 20,50 [9,25–27,00] 9,00 [2,00–23,00], 0,003). Overall, 37% (48/130) assumed specific treatment, most them exhibiting mutation (43/48 patients, p<0,001).No significant differences observed comparing percentage LVH, LGE low T1 values similar variants. During median 36 [17–57] months, Kaplan Meier curves shows event-free probability (Log-rank 0,362) (Fig. 1). In addition, presence LVH both associated Conclusion showed phenotype prognosis mutations. same impact phenotypes. assessment represents pivotal step evaluation irrespective genotype.