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.
Study Type
OBSERVATIONAL
Enrollment
100
Spedali Civili Hospital
Brescia, Brescia, Italy
ACTIVE_NOT_RECRUITINGFondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
Milan, Milan, Italy
ACTIVE_NOT_RECRUITINGIRCCS Policlinico San Donato
San Donato Milanese, Milan, Italy
RECRUITINGFondazione IRCCS San Gerardo dei Tintori
Monza, Monza, Italy
ACTIVE_NOT_RECRUITINGRegina Margherita Hospital
Turin, Turin, Italy
ACTIVE_NOT_RECRUITINGCPET parameters- peak Vo2
Peak VO2 ml/Kg/min
Time frame: At baseline and before 36 months from baseline.
CPET parameters- predicted peak Vo2
Predicted peak VO2 (%).
Time frame: At baseline and before 36 months from baseline.
CPET parameters- VE/VCO2 slope
VE/VCO2 slope
Time frame: At baseline and before 36 months from baseline.
CPET parameters- oxygen pulse
02 pulse (ml/beat)
Time frame: At baseline and before 36 months from baseline.
CPET parameters- heart rate during exercise
Heart rate reserve (beats/minute) Heart rate recovery (beat/minute) Heart rate recovery at one minute (beat/minute)
Time frame: At baseline and before 36 months from baseline.
CPET parameters- presence of chronotropic incompetence, O2 pulse flattening and exercise oscillatory ventilation
Chronotropic incompetence (yes/no) 02 pulse flattening (yes/no) exercise oscillatory ventilation (yes/no)
Time frame: At baseline and before 36 months from baseline.
CPET parameters- VO2/work slope
VO2/work slope (ml/min/watt)
Time frame: At baseline and before 36 months from baseline.
Echocardiogram parameters- diastolic function at rest
At rest E/A ratio. At rest mean E/E'. At rest left atrial reservoir function (%). At rest sPAP (mmHg).
Time frame: At baseline and before 36 months from baseline.
Echocardiogram parameters- systolic function of the left and right ventricle at rest
At rest TAPSE (mm) At rest LV ejection fraction (%) At rest LV stroke volume indexed for body mass surface (ml/mq) At rest right ventricular free wall strain (%)
Time frame: At baseline and before 36 months from baseline.
Echocardiogram parameters- right ventricle-pulmonary artery coupling at rest.
At rest TAPSE/sPAP (mm/mmHg)
Time frame: At baseline and before 36 months from baseline.
Echocardiogram parameters- exertional diastolic function
exertional E/A, exertional mean E/E' exertional TAPE/sPAP (mm/mmHg) mPAP/CO (mmHg/L/min)
Time frame: At baseline and before 36 months from baseline.
CMR parameters - LV Mass and LV Max Wall Thickness
LV mass (gr) and LV max wall thickness (mm).
Time frame: At baseline and before 36 months from baseline.
CMR parameters - Systolic Function
Stroke volume indexed to body surface (ml/m2) and left ventricular ejection fraction (%).
Time frame: At baseline and before 36 months from baseline.
CMR parameters - T1 and T2 Mapping
T1 and T2 mapping (msec).
Time frame: At baseline and before 36 months from baseline.
CMR parameters - presence of late gadolinium enhancement
late gadolinium enhancement (yes/no)
Time frame: At baseline and before 36 months from baseline.
CMR parameters - ECV
Extracellular volume (%)
Time frame: At baseline and before 36 months from baseline.
Incidence of Cardiovascular Events
Absolute number of all-cause mortality, CV death, ventricular arrhytmias (sustained and non-sustained VT and VF), bradyarrhytmias requiring permanent pacing, new-onset of atrial fibrillation/atrial flutter, myocardial infarction and stroke.
Time frame: Up to 7 years follow-up.
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