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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.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Cases | Other | The intervention consists in setting up a morphological and rhythmological cardiological follow-up patients with confirmed Wilson disease. It will require the wearing of a long Holter duration (21 days) and for some patients the installation of an implantable cardiac monitor.The long-time ECG holter is used to record heart rhythm for 21 days and detect possible arrhythmias (accelerations of the heart) or conduction disorders (slowdowns of the heart). |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Delivery of a long-term Holter 21 days Or placement of an implantable holter from the outset so syncope | Procedure | 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. |
| Measure | Description | Time Frame |
|---|---|---|
| Contrast-enhanced cardiac MRI - Day 0 | Percentage of patients with abnormal contrast-enhanced cardiac MRI results | Day 0 |
| Contrast-enhanced cardiac MRI - Day 0 | Description of abnormalities (frequency and percentage) | Day 0 |
| Transthoracic echocardiography - Day 0 | Percentage of patients with abnormal transthoracic echocardiography results | Day 0 |
| Transthoracic echocardiography - Day 0 | Description of abnormalities (frequency and percentage) | 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. | Day 0 |
| Electrocardiogram - Day 0 | Percentage of patients with abnormal electrocardiogram results | Day 0 |
| Electrocardiogram - Day 0 | Description of abnormalities (frequency and percentage) | Day 0 |
| Clinical examination - Day 0 |
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Inclusion Criteria:
Exclusion Criteria:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Amélie YAVCHITZ | Contact | 01 48 03 64 54 | ayavhitz@for.paris | |
| Aurélia POUJOIS | Contact | 01 48 30 66 56 | apoujois@for.paris |
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| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Fondation Adolphe de Rothschild | Recruiting | Paris | 75019 | France |
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| ID | Term |
|---|---|
| D006527 | Hepatolenticular Degeneration |
| ID | Term |
|---|---|
| D008107 | Liver Diseases |
| D004066 | Digestive System Diseases |
| D001480 | Basal Ganglia Diseases |
| D001927 | Brain Diseases |
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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
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|
Percentage of patients with abnormal clinical examination |
| Day 0 |
| Clinical examination - Day 0 | Description of abnormalities (frequency and percentage) | 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 | 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 | Day 0 |
| Lying and standing blood pressure tests - Day 0 | Percentage of patients with abnormal blood pressure tests results | Day 0 |
| Lying and standing blood pressure tests - Day 0 | Description of abnormalities (frequency and percentage) | 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. | 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. | Day 21 |
| Transthoracic echocardiography - Year 3 | Percentage of patients with abnormal transthoracic echocardiography results | Year 3 |
| Transthoracic echocardiography - Year 3 | Description of abnormalities (frequency and percentage) | Year 3 |
| Contrast-enhanced cardiac MRI - Year 3 | Percentage of patients with abnormal contrast-enhanced cardiac MRI results | Year 3 |
| Contrast-enhanced cardiac MRI - Year 3 | Description of abnormalities (frequency and percentage) | 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. | Year 3 |
| Electrocardiogram - Year 3 | Percentage of patients with abnormal electrocardiogram results | Year 3 |
| Electrocardiogram - Year 3 | Description of abnormalities (frequency and percentage) | Year 3 |
| Clinical examination - Year 3 | Percentage of patients with abnormal clinical examination | Year 3 |
| Clinical examination - Year 3 | Description of abnormalities (frequency and percentage) | 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 | 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 | Year 3 |
| Lying and standing blood pressure tests - Year 3 | Percentage of patients with abnormal blood pressure tests results | Year 3 |
| Lying and standing blood pressure tests - Year 3 | Description of abnormalities (frequency and percentage) | Year 3 |
| D002493 |
| Central Nervous System Diseases |
| D009422 | Nervous System Diseases |
| D020739 | Brain Diseases, Metabolic, Inborn |
| D001928 | Brain Diseases, Metabolic |
| D009069 | Movement Disorders |
| D020271 | Heredodegenerative Disorders, Nervous System |
| D019636 | Neurodegenerative Diseases |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D008661 | Metabolism, Inborn Errors |
| D008664 | Metal Metabolism, Inborn Errors |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |