HEART FAILURE IN FABRY DISEASE REVISITED: APPLICATION OF CURRENT HEART FAILURE GUIDELINES AND RECOMMENDATIONS

Aims: Fabry disease (FD) is often associated with heart failure (HF). However, data on HF prevalence, prognosis, and applicability of echocardiographic criteria for HF diagnosis in FD remain uncertain.

Methods: We evaluated patients with FD for symptoms and natriuretic peptides indicating HF. We then analysed the diagnostic utility of the currently recommended echocardiographic criteria for HF diagnosis and their relationship to natriuretic peptides. Finally, we examined the association between HF and echocardiographic criteria with clinical events during follow-up.

Results: Of 116 patients with FD, 47 (41%) had symptomatic HF (58 ± 11 years, 62% male). HF with preserved ejection fraction (HF-pEF) was diagnosed in 43 (91%) patients. Left ventricular mass index (LVMi) had the highest diagnostic utility (sensitivity 71% and specificity 83%) for HF diagnosis, followed by E/e' > 9 (sensitivity 76% and specificity 78%) and global longitudinal strain (GLS) <16% (sensitivity 54% and specificity 88%). Natriuretic peptides correlated significantly with LVMi (r = 0.60), E/e' (r = 0.54), and GLS (r = 0.52) (all Ps < 0.001). During follow-up (mean 1208 ± 444 days), patients diagnosed with HF had a higher rate of mortality and worsening HF (33% vs. 1.5%, P < 0.001). Abnormal LVMi, E/e' > 9, and GLS < 16% were all associated with higher all-cause mortality and worsening HF.

Conclusions: This study found a high prevalence of HF in FD. HF-pEF was the dominant phenotype. LVMi, E/e', and GLS yielded the highest diagnostic utility for HF diagnosis and were correlated with natriuretic peptides levels. Echocardiographic criteria proposed by current guidelines apply to Fabry patients and predict future events. Fabry patients with HF had high event rates and significantly worse prognosis than patients without HF.