Wilson's Disease
Conditions
Brief summary
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.
Interventions
PROCEDUREDelivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncope
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.
Sponsors
Fondation Ophtalmologique Adolphe de Rothschild
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
OTHER
Masking
NONE
Intervention model description
All patients with confirmed Wilson Disease presenting for consultation or hospitalization for their follow-up or at the time of diagnosis will be offered to participate in the study. Patients who have already benefited from a cardiac assessment with installation of an implantable Holter ECG as part of the treatment may be included retrospectively
Eligibility
Sex/Gender
ALL
Age
18 Years to No maximum
Healthy volunteers
No
Inclusion criteria
* Adult patient with Wilson's disease confirmed by a Leipzig score ≥ 4 * Express consent to participate in the study by the patient or legal guardian in the case of patients under guardianship or by the patient assisted by his curator in the case of patients under guardianship * Member of or beneficiary of a Social Security scheme
Exclusion criteria
* Absolute or relative contraindication to MRI or contrast media * Pregnant, parturient or breast-feeding women: a urine pregnancy test will be carried out in women of childbearing age * Patient with hepatic decompensation (Child-Pugh score stage C) * Patient in neuro-psychiatric decompensation
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Transthoracic echocardiography - Day 0 | Day 0 | Percentage of patients with abnormal transthoracic echocardiography results |
| Contrast-enhanced cardiac MRI - Day 0 | Day 0 | Percentage of patients with abnormal contrast-enhanced cardiac MRI results |
| Chest computed tomography scan without contrast - Day 0 | 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. |
| Electrocardiogram - Day 0 | Day 0 | Percentage of patients with abnormal electrocardiogram results |
| Clinical examination - Day 0 | Day 0 | Percentage of patients with abnormal clinical examination |
| Blood and urine tests - Day 0 | 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 |
| Lying and standing blood pressure tests - Day 0 | Day 0 | Percentage of patients with abnormal blood pressure tests results |
| Implantable loop recorder or ECG holter recorder- Day 21 | 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. |
| Transthoracic echocardiography - Year 3 | Year 3 | Percentage of patients with abnormal transthoracic echocardiography results |
| Contrast-enhanced cardiac MRI - Year 3 | Year 3 | Percentage of patients with abnormal contrast-enhanced cardiac MRI results |
| Chest computed tomography scan without contrast - Year 3 | 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. |
| Electrocardiogram - Year 3 | Year 3 | Percentage of patients with abnormal electrocardiogram results |
| Clinical examination - Year 3 | Year 3 | Percentage of patients with abnormal clinical examination |
| Blood and urine tests - Year 3 | 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 |
| Lying and standing blood pressure tests - Year 3 | Year 3 | Percentage of patients with abnormal blood pressure tests results |
Countries
France
Contacts
Primary ContactAmélie YAVCHITZ
Backup ContactAurélia POUJOIS
Outcome results
None listed