Heart damage by copper accumulation has been reported in Wilson's Disease. However, the disease epidemiology is still poorly understood. A number of studies on pediatric populations have not shown any significant cardiac involvement apart from early dysautonomia. This could suggest that the clinical manifestations related to the copper accumulation in the heart appears with the duration of the disease. Case-control studies on adult populations have highlighted various electrocardiographic (ECG) abnormalities more frequent in patients with Wilson's Disease than in healthy volunteers, but all these studies involved small number of patients (maximum 60). The hypothesis is that there is cardiac involvement in Wilson's Disease, requiring screening, follow-up and appropriate support.
Study Type
INTERVENTIONAL
Allocation
NA
Purpose
OTHER
Masking
NONE
Enrollment
150
The intervention consists of setting up a morphological and rhythmological cardiological follow-up of patients with confirmed Wilson's disease. It will require the wearing of a long-term Holter (21 days) and for some patients the installation of an implantable cardiac monitor.
Fondation Adolphe de Rothschild
Paris, France
RECRUITINGContrast-enhanced cardiac MRI - Day 0
Percentage of patients with abnormal contrast-enhanced cardiac MRI results
Time frame: Day 0
Contrast-enhanced cardiac MRI - Day 0
Description of abnormalities (frequency and percentage)
Time frame: Day 0
Transthoracic echocardiography - Day 0
Percentage of patients with abnormal transthoracic echocardiography results
Time frame: Day 0
Transthoracic echocardiography - Day 0
Description of abnormalities (frequency and percentage)
Time frame: Day 0
Chest computed tomography scan without contrast - Day 0
Percentage of patients with abnormal coronary artery calcium score Calcium score : The higher the coronary calcium score, the greater the cardiovascular risk. A score of 0 (min) means that no calcium is seen in the heart. A score greater than 300 is a sign of very high to severe disease.
Time frame: Day 0
Electrocardiogram - Day 0
Percentage of patients with abnormal electrocardiogram results
Time frame: Day 0
Electrocardiogram - Day 0
Description of abnormalities (frequency and percentage)
Time frame: Day 0
Clinical examination - Day 0
Percentage of patients with abnormal clinical examination
Time frame: Day 0
Clinical examination - Day 0
Description of abnormalities (frequency and percentage)
Time frame: Day 0
Blood and urine tests - Day 0
Percentage of patients with abnormal blood and urine tests results Blood tests performed : lipid profile, glycosylated hemoglobin (HbA1C), cardiac enzymes (troponin C, NT-proBNP), ultra-sensitive C-reactive protein, sodium level, potassium level, urea and creatinine clearance, TSH, fibrinogen Urine test performed : proteinuria
Time frame: Day 0
Blood and urine tests - Day 0
Description of abnormalities (frequency and percentage) Blood tests performed : lipid profile, glycosylated hemoglobin (HbA1C), cardiac enzymes (troponin C, NT-proBNP), ultra-sensitive C-reactive protein, sodium level, potassium level, urea and creatinine clearance, TSH, fibrinogen Urine test performed : proteinuria
Time frame: Day 0
Lying and standing blood pressure tests - Day 0
Percentage of patients with abnormal blood pressure tests results
Time frame: Day 0
Lying and standing blood pressure tests - Day 0
Description of abnormalities (frequency and percentage)
Time frame: Day 0
Implantable loop recorder or ECG holter recorder- Day 21
Percentage of patients with abnormal implantable loop record (or ECG holter record) The device will record from Day 0 to Day 21 Implantable loop recorder assessment will be only performed on patients with syncope.
Time frame: Day 21
Implantable loop recorder or ECG holter recorder- Day 21
Description of abnormalities (frequency and percentage) The device will record from Day 0 to Day 21 Implantable loop recorder assessment will be only performed on patients with syncope.
Time frame: Day 21
Transthoracic echocardiography - Year 3
Percentage of patients with abnormal transthoracic echocardiography results
Time frame: Year 3
Transthoracic echocardiography - Year 3
Description of abnormalities (frequency and percentage)
Time frame: Year 3
Contrast-enhanced cardiac MRI - Year 3
Percentage of patients with abnormal contrast-enhanced cardiac MRI results
Time frame: Year 3
Contrast-enhanced cardiac MRI - Year 3
Description of abnormalities (frequency and percentage)
Time frame: Year 3
Chest computed tomography scan without contrast - Year 3
Percentage of patients with abnormal coronary artery calcium score Calcium score : The higher the coronary calcium score, the greater the cardiovascular risk. A score of 0 (min) means that no calcium is seen in the heart. A score greater than 300 is a sign of very high to severe disease.
Time frame: Year 3
Electrocardiogram - Year 3
Percentage of patients with abnormal electrocardiogram results
Time frame: Year 3
Electrocardiogram - Year 3
Description of abnormalities (frequency and percentage)
Time frame: Year 3
Clinical examination - Year 3
Percentage of patients with abnormal clinical examination
Time frame: Year 3
Clinical examination - Year 3
Description of abnormalities (frequency and percentage)
Time frame: Year 3
Blood and urine tests - Year 3
Percentage of patients with abnormal blood or urine tests results Blood tests performed : lipid profile, glycosylated hemoglobin (HbA1C), cardiac enzymes (troponin C, NT-proBNP), ultra-sensitive C-reactive protein, sodium level, potassium level, urea and creatinine clearance, TSH, fibrinogen Urine test performed : proteinuria
Time frame: Year 3
Blood and urine tests - Year 3
Description of abnormalities (frequency and percentage) Blood tests performed : lipid profile, glycosylated hemoglobin (HbA1C), cardiac enzymes (troponin C, NT-proBNP), ultra-sensitive C-reactive protein, sodium level, potassium level, urea and creatinine clearance, TSH, fibrinogen Urine test performed : proteinuria
Time frame: Year 3
Lying and standing blood pressure tests - Year 3
Percentage of patients with abnormal blood pressure tests results
Time frame: Year 3
Lying and standing blood pressure tests - Year 3
Description of abnormalities (frequency and percentage)
Time frame: Year 3
This platform is for informational purposes only and does not constitute medical advice. Always consult a qualified healthcare professional.