Amyloidosis
Conditions
Keywords
ATTR aortic valve amyloidosis
Brief summary
Cardiac amyloidosis is a restrictive cardiomyopathy with a potentially severe prognosis that can be life-threatening. It is linked in the vast majority of cases to a light chain deposition of immunoglobulin or transthyretin. Although myocardial involvement is predominant, other locations are possible: the atrioventricular conduction system, coronary arteries and valve leaflets. In systematic histological analyzes, deposits of amyloidosis infiltrating the aortic valve have been reported with a frequency of up to 74% for degenerative RA. The nature of these deposits has never been established because the immunostaining carried out all remained negative, probably due to decalcification prior to cutting. Currently, these deposits are considered to be local degenerative phenomena without clinical repercussions. However, the use of bone scintigraphy has shown a high prevalence, between 14 and 16%, of ATTR cardiac amyloidosis in patients with severe RA. The diagnosis of ATTR amyloidosis has been proven histologically in a few patients. Sequencing of the TTR gene has shown that they are mainly wild forms. In fact, the prevalence of transthyretin mutations in our local cohort is 20%. The objective of this study is to determine by proteomic analysis based on mass spectrometry, the prevalence of ATTR aortic valve amyloidosis in patients undergoing surgical valve replacement for degenerative aortic stenosis.
Interventions
DIAGNOSTIC_TESTProteomic analysis
Proteomic analysis based on mass spectrometry on the sample of valve tissues.
Sponsors
University Hospital, Toulouse
Study design
Allocation
NA
Intervention model
SINGLE_GROUP
Primary purpose
PREVENTION
Masking
NONE
Eligibility
Sex/Gender
ALL
Age
18 Years to 99 Years
Healthy volunteers
No
Inclusion criteria
* Patient over 18 years old * Degenerative aortic stenosis * Aortic valve replacement surgery * Signature of the informed consent form
Exclusion criteria
* Non-degenerative aortic stenosis: bicuspid, rheumatic disease, aortic regurgitation * Persons under a system of legal protection for adults (guardianship, curatorship, etc.) * Pregnant women
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| prevalence rate of valvular ATTR amyloidosis | 1 year | calculation of the prevalence rate of valvular ATTR amyloidosis with its 95% confidence interval. |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Prevalence of ATTR myocardial amyloidosis revealed by bone scintigraphy | 1 year | The prevalence of ATTR myocardial amyloidosis revealed by bone scintigraphy (HMDP scan) will be calculated |
| percentage of wild ATTR myocardial amyloidosis | 1 year | The percentage of wild ATTR forms will be calculated |
| percentage of mutated ATTR myocardial amyloidosis | 1 year | The percentage of mutated ATTR forms will be calculated |
| Prevalence of types of amyloidosis other than ATTR | 1 year | The prevalence of types of amyloidosis other than ATTR will be calculated |
Countries
France
Contacts
CONTACTMagali COLOMBAT, MD
CONTACTOlivier LAIREZ, MD
PRINCIPAL_INVESTIGATORMagali COLOMBAT, MD
University Hospital, Toulouse
Outcome results
None listed