Estimation of Myocardial Iron Overload by 3 Tesla MRI in HFE Hereditary Haemochromatosis (HEMOCOEUR)
Myocardial Iron Overload, HFE-Associated Hereditary Hemochromatosis
About this trial
This is an interventional diagnostic trial for Myocardial Iron Overload focused on measuring myocardial iron overload, HFE-Associated Hereditary Hemochromatosis, 3 Tesla MRI, cardiological strategy in haemochromatosis, congestive heart failure
Eligibility Criteria
Inclusion Criteria:
Patients :
- Adults older than 18 ;
- Newly diagnosed with HFE hereditary haemochromatosis by genetic testing (homozygous for the C283Y mutation on HFE gene);
- Treatment-naive;
- Showing a ferritin level higher than 200µg/l for women and higher than 300µg/L for men;
- Affiliated to French Social Security;
- Having given a written informed consent.
Healthy volunteers:
- Adults older than 18;
Presenting all the following criterions:
- Normal cardiovascular physical examination: no signs of cardiac insufficiency, no pathological cardiac murmur, normal EKG (regular sinus rhythm, no high degree AV nor ventricular blocks, no rhythm anomaly),
- Body Mass Index <27 kg/m²,
- Normal routine blood biology (blood count, MCV, serum iron, ferritin, transferrin saturation);
- Affiliated to French Social Security;
- Having given a written informed consent.
Exclusion Criteria:
Patients :
MRI-related criterions :
- Cardiac pacemaker or implanted defibrillator ;
- Non MRI-compatible prosthetic cardiac valve;
- Non MRI-compatible clips/stents/coils/etc.;
- Cochlear implant;
- Peripheral or neuronal stimulator;
- Intra-ocular or brain metallic foreign bodies , foreign body in the eyes' vicinity, shrapnel or firearm wound;
- Less than 4 weeks-old stents, less than 6 weeks-old osteosynthesis materials;
- Claustrophobia;
- Pumps, tattoos, permanent makeup, intrauterine device, patches;
- Non-removable metallic or magnetic material in the vicinity of the analysed field.
Other criterions :
- Haemodynamic instability / Acute respiratory insufficiency / Altered general status / Need for continuous monitoring incompatible wih MRI confines;
- Pregnancy, breast feeding;
- History of blood transfusion or iron supplementation;
- Blood donation in the last 3 months;
- Infection in the 7 days prior to the first visit;
- Stay in altitude (>1500m) in the past 2 months;
- Adults under legal protective regimen or deprived of liberty.
Healthy volunteers
- Alcohol abuse (>20g per day for women, >30g per day for men);
- Active tobacco intoxication or smoking cessation in the 6 last months;
- Personal cardiovascular medical history;
- Cardiovascular functional signs.
Sites / Locations
- Rennes University Hospital
Arms of the Study
Arm 1
Arm 2
Experimental
Experimental
Patients with HFE hereditary haemochromatosis
Healthy volunteers
The patients (40) will undergo a medical examination in order to analyse their medical history, cardiovascular parameters and check inclusion and non-inclusion criterions. Then will be performed : An electrocardiogram Blood tests : iron and cardiac markers (serum iron, serum transferrin, transferrin saturation, serum ferritin, NT-proBNP), beta-hCG if needed, serum bank A 3Tesla cardiac MRI repeated twice (in order to respect the reproducibility criterion) A 3Tesla abdominal MRI An echocardiography at rest.
The healthy volunteers (10 men and 10 women) will undergo : A urinary pregnancy test (if applicable) A 3Tesla cardiac MRI repeated twice (in order to respect the reproducibility criterion) An echocardiography at rest.