Hereditary haemochromatosis (HHC) is a frequent disease in Brittany (5 to 7‰), responsible first for biological disorder in blood iron parameters and minor clinical disorders, before evolving to potential life-threatening consequences such as diabetes, liver cirrhosis and congestive heart failure. The improvement of screening and treatments made those severe affections rare enough not to evaluate myocardial iron overload a systematic part of the starting check-up. Nonetheless this myocardial iron overload might have severe implications on cardiac function on a long term basis. A single trial was conducted on limited number of patients with 1.5 Tesla MRI, which showed a myocardial iron overload (defined by a myocardium T2\* value \<20ms) in 19% of the subjects. The main objective of this study is to precisely estimate cardiac iron overload in treatment naive patients with newly diagnosed HFE hereditary haemochromatosis with a 3 Tesla MRI, more sensitive than the 1.5 Tesla one, in order to later appreciate its correlation with cardiac morbidity in HHC.
Since the wide use of phlebotomy was implemented the incidence of congestive heart failure in HHC became quite low. As such, the interest towards the initial diagnosis and cardiological follow-up has been lesser. A subclinical myocardial iron overload can nevertheless exist and eventually lead to functional consequences in the medium and long term if neglected, even evolve into heart failure and preserved ejection fraction. The expected aftermath of this study is : * The estimation of the frequency of myocardial iron overload measured by 3 Tesla MRI in patient with HFE hereditary haemochromatosis; * The assessment of its consequences on heart function; * The appreciation of a cardiological assessment strategy in patients with HFE hereditary haemochromatosis.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
NONE
Enrollment
66
Serum iron, serum transferrin, transferrin saturation, serum ferritin, NT-proBNP
Beta-hCG
Transthoracic echocardiograph
Rennes University Hospital
Rennes, France
Myocardial T2* values in haemochromatosis compared to healthy volunteers
Assessment of the percentage rate of patients presenting a lower T2\* value than the baseline defined by the mean of T2\* values measured in healthy volunteers with a 1 standard deviation margin.
Time frame: Day 1
Mean T2 values in healthy volunteers and patients with HFE-related haemochromatosis
Comparison of the mean T2 values in healthy volunteers and patients with HFE-related haemochromatosis
Time frame: Day 1
Echocardiographic parameters of systolic and diastolic functions and myocardial deformation
Time frame: Day 1
Myocardial T2 and T2* values in both groups
Time frame: Day 1
Liver T2/T2* values
Correlation between liver T2/T2\* and myocardial T2/T2\*
Time frame: Day 1
Pancreas T2/T2* values
Correlation between pancreas T2/T2\* and myocardial T2/T2\*
Time frame: Day 1
Spleen T2/T2* values
Correlation between spleen T2/T2\* and myocardial T2/T2\*
Time frame: Day 1
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