Long Duration Holter ECG in Fabry Disease

The main objective of this non-blinded, monocentric non-randomized study is to assess the occurrence of cardiac arrhythmias and conduction disorders (sinus dysfunction, branch block [BB], atrioventricular block [BAV], sustained [TVS] or non-supported [TVNS] ventricular tachycardias, atrial fibrillation [AF] during a three-year follow-up in 40 patients with Fabry disease (half with left ventricular hypertrophy) using an implantable Holter ECG device (Medtronic Reveal-LINQ™). The secondary objectives are to analyze the correlations (at 1, 2 and 3 years) of these anomalies with the modifications of :

• cardiac MRI [Magnetic Resonance Imaging] data at inclusion [M0] and at 36 months [M36] (left ventricular hypertrophy [HVG], amplitude of the T1 signal, extent of fibrosis); MRIs will be performed before implantation and after removal of the Holter to avoid the reading artifacts linked to the device.
• echocardiographic measurements of the left ventricle (overall longitudinal strain systolic [SGL] and ejection fraction [FE])
• biological parameters (BNP or NT-proBNP, ultra-sensitive troponin and Lyso-Gb3)
• the overall severity of the disease assessed by MSSI (Mainz Severity Score Index), DFG and proteinuria

Inclusion criteria

• Male patient
• Age greater than or equal to 18 years on the day of inclusion
• Presence of a morbid mutation for MF
• Signature of the informed consent form
• Absence of significant valve disease, verified on medical file (absence stenosis or regurgitation <2+ in color Doppler on a scale 1 to 4+ by extension of the jet)
• No history of known or documented myocardial infarction nor CAD
• No pacemaker or ICD
• no history of AF, NSVT, high-degree AV block
• Correct echogenicity
• No treatment by corticosteroid or immunosuppressive drugs
• creatinine clearance >/= 30 Ml/mn
• LVEF ≥ 50% by ultrasound and / or MRI
• No contraindication to MRI (or claustrophobia) and gadolinium injection
• Affiliation to the French social security insurance