Functional Capacity in Anderson-Fabry Disease Patients

Summary

The goal of this observational study is to observe the relation between excercise parameters - assessed by CPET - and rest/stress hemodynamic parameters - assessed by echocardiogram and CMR - in patients with a genetic diagnosis of Anderson-Fabry Disease. Participants will undergo: * baseline evaluation: clinical evaluation, disease staging with FASTEX and MSSI, KCCQ for quality of life assessment, resting 12-leads ECG, 6MWT, CPET-ESE and contrast-enhanced CMR; * before 36 months from baseline: resting 12-leads ECG, 2D rest and stress echocardiogram, CPET-ESE, contrast-enhanced CMR, disease staging with FASTEX and MSSI and KCCQ for quality of life assessment; * up to 7 years from baseline: clinical follow-up.

Eligibility

Inclusion Criteria:

* Patients with a genetic diagnosis of AFD, according to current guidelines;
* Informed written consent with the understanding that consent may be withdrawn by the patient at any time without prejudice to future medical care (for patients age \<18 years old, written consent from a caregiver is mandatory).

Exclusion Criteria:

* eGFR \<30 ml/min and other contraindications for CMR (relative controindication: patients with implantable device);
* Musculoskeletal limitation for exercise test on the cyclo ergometer;
* Pregnant or breastfeeding women;
* Any serious medical or psychiatric illness that could, in the investigator's opinion, potentially interfere with a full comprehension of the written consent form.

Conditions2

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