Anderson-Fabry disease is a genetic lysosomal storage disease, linked to chromosome X (gene GLA), responsible of enzyme synthesis deficit in α-galactosidase A with intracellular sphingolipids accumulation and multiorganic achievement. If renal complication is principally responsible of the pejorative evolution of the disease, it may also exist a cardiac achievement, symptomatic or not (heart failure symptoms including dyspnea, conduction abnormalities, supra-ventricular and ventricular arrhythmias), with or without left ventricular hypertrophy (LVH). Administration of agalsidase-α or ß, a genetic engineering synthetic equivalent of the deficient enzyme, should significantly slow disease evolution indeed reduce LVH. Some patients with Fabry disease without LVH should present, compared to healthy subjects, indirect early markers of intramyocyte lipid overload: * in echocardiography, longitudinal myocardial deformation (strain) should be altered while ejection fraction is preserved, and * in cardiac MRI, T1 mapping should be reduced1. This was also previously demonstrated in Fabry patients with LVH2. However, are these abnormalities of longitudinal deformation in echocardiography and of T1 mapping in MRI correlated to the presence of pejorative cardiac markers (such as clinical and functional tolerances, Brain Natriuretic Peptide (BNP) level and electrical complications)?
Study Type
OBSERVATIONAL
Enrollment
55
Creatinin, hematocrit and BNP assays
With injection of gadolinium
Without injection of gadolinium
CHU de Bordeaux
Pessac, France
RECRUITINGCardiovascular symptoms
Dyspnea, angor, syncope and lipothymia, palpitations, heart failure signs
Time frame: Baseline
Metabolic exercise test marker : poor blood pressure adaptation to exercise
Time frame: Baseline
Metabolic exercise test marker: max level achieved
Time frame: Baseline
Metabolic exercise test marker : percentage of theoretical maximal heart rate
Time frame: Baseline
Metabolic exercise test marker : peak of Oxygen uptake (VO2)
Time frame: Baseline
Metabolic exercise test marker : percentage of expected peak VO2
Time frame: Baseline
Metabolic exercise test marker : Expiratory volume / carbon dioxide production (VE/VCO2)
Time frame: Baseline
Biological marker : BNP elevation
Time frame: Baseline
Electrical markers at ECG and Holter ECG
Measure of conduction troubles; supra-ventricular and ventricular arrhythmias.
Time frame: Baseline
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