Cardiopulmonary fitness assessment on maximal and submaximal exercise testing in patients with Fabry disease.

The cardiopulmonary exercise test (CPET) is a valuable tool to assess a patient's aerobic fitness and cardiac function, including the response to stress. There have been few studies using CPET to evaluate cardiopulmonary exercise capacity in patients with Fabry disease. We performed a retrospective chart review of patients with Fabry disease from 2001 to 2016, compared to age, gender, and size-matched normal controls. A total of 18 patients were evaluated using the Bruce protocol (treadmill) and 11 patients were evaluated with the ramp protocol (cycle ergometer). The Fabry group demonstrated significantly lower heart rate at peak exercise (151.2 ± 22.5 vs. 178.6 ± 16.2, p < .05), max indexed VO (23.7 ± 7 vs. 33.9 ± 8.4, p < .05), and peak index oxygen pulse (12.1 ± 3 vs. 15.2 ± 4.2, p < .05). When the groups were further separated into treadmill or cycle ergometry testing only, there remained statistically significant differences in peak indexed oxygen pulse, heart rate at peak exercise, and max indexed VO . There was a statistically significant difference between the Fabry patients evaluated by treadmill testing for systolic blood pressure at peak exercise that was not seen in the cycle ergometry group. Additionally, when looking at the patients who had concurrent cardiac MRI (cMRI) with their CPET, there was a positive correlation with max indexed VO and right ventricular end-diastolic volume (r = .55, p = .007) and end-systolic volume (r = .59, p = .007). Patients with Fabry disease have impaired cardiopulmonary exercise capacity as measured by CPET. Additionally, in patients with Fabry disease there is a positive correlation with functional capacity and right ventricular volumes on cMRI.