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Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disease characterized by glicosphingolipid accumulation in multiple organs, including the heart. Cardiopulmonary exercise test (CPET) can detect subtle abnormalities in the transport of oxygen to the mitochondria. However, in AFD patients, few studies have focused on exercise test and CPET abnormalities.


To describe CPET abnormalities in a cohort of AFD patients.

Methods and results

Seventeen patients (10 females) with genotyped AFD were subdivided according to peak oxygen consumption (VO2) <85% or >85% of predicted. Ten patients showed a peakVO2<85%. They also had lower VO2 at anaerobic threshold than patients with normal peakVO2 (p<0.01), were more often on enzyme replacement therapy, had higher prevalence of chronic kidney disease and were less frequently carriers of the C.644A>G p.Asn215Ser mutation (p<0.05). Electrocardiographic and echocardiographic parameters were similar between the two groups. Two subjects per group had cardiac wall thickness at the upper limits of normalcy. One female per group had normal left ventricular wall thickness and mass.


Impaired exercise performance is common in patients with AFD, and may be detected in the presence of both mild cardiac phenotypes and even in the absence of other detectable abnormalities. CPET may play an important role in the early diagnosis of AFD-related functional impairment.


Sergio Caravita;  Ilaria Tanini;  Lia Crotti;  Claudia Baratto;  Gianfranco Parati;  Francesco Fattirolli;  Iacopo Olivotto;  Franco Cecchi

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