Abstract
dependent vasodilation may be impaired in patients with AFD. The study enrolled 29 patients with genetically proved AFD, who had never been treated with enzyme replacement therapy (ERT) and 18 healthy volunteers, comparable for age, gender distribution and body mass index (BMI). Subjects with smoking habitus or BMI N30 kg/m 2 were excluded from the study. Coronary artery disease was ruled out on the basis of the clinical history plus a negative maximal exercise test. Female participants underwent the study within the first 8 days of their menstrual cycle, as hormonal fluctuations of the menstrual cycle are known to affect coronary flow regulation. All participants refrained from caffeine-containing beverages or theophylline containing medications for at least 24 h before the tests. The standard Doppler echocardiographic assessment and CPT test were carried out on the same day, during the morning. Dipyridamole test (0.56 mg/kg of body weight in 4 min) was performed 24 h later. According to standardized CPT protocol [7], the study participants placed their hand and distal part of the forearm in an ice water slurry for 3 min. The Doppler sample
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