Genetic Disease, Mitral Valve Prolapse
Conditions
Keywords
Mitral valve prolapse, genetic, echocardiography
Brief summary
Phenotypic characterisation of MVP by echocardiography in families. Identification of genes involved in MVP.
Detailed description
After clinical identification of patients with MVP, doctors organize 1st degree relative familial screening. A comprehensive echocardiography was carried out along with clinical examination. All echo data were stored for off-line analysis by a sonographer in our Core-lab. Blood was sample at the time of echocardiography in adult patients for DNA analyses. Follow-up for mitral valve changes will be performed after 5 years.
Interventions
None listed
Sponsors
University Hospital, Brest
Rennes University Hospital
Nantes University Hospital
Study design
Observational model
FAMILY_BASED
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
Yes
Inclusion criteria
* Patients of any age * with typical mitral valve prolapse * relatives examined during familial screening
Exclusion criteria
* Refusal of the patient
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| MVP defined by a superior displacement of at least 2 mm | At Day 0 | MVP defined by a superior displacement of at least 2 mm |
Secondary
| Measure | Time frame | Description |
|---|---|---|
| Comprehensive mitral valve apparatus characterization per size of items (leaflets, chordae, annulus) | At Day 0 | Leaflets length ; Chordae length ; Annulus diameter |
| Comprehensive mitral valve apparatus characterization per other items (papillary muscle, ventricles) | At Day 0 | Papillary muscles aspect ; Right Ventricle function ; Left Ventricle Ejection Fraction |
| Comprehensive mitral valve apparatus characterization per size of items (ventricle and atrium sizes) | At Day 0 | Left ventricle and atrium sizes ; right ventricle size ; right Atrium size |
| Comprehensive mitral valve apparatus characterization per size of items | At Day 0 | Leaflets thickness |
Other
| Measure | Time frame | Description |
|---|---|---|
| Incidence of cardiac or clinical defects associated with MVP | At Day 0 Follow-up will be carried out at 5 and 10 years | Atrial septal defect, ventricular septal defect, patent ductus arteriosus, tricuspid or aortic valve abnormalities (prolapse, bicuspid AV…), coarctation, ascending aorta aneurysm |
Countries
France
Contacts
Primary ContactThierry Le Tourneau, PU-PH
Outcome results
None listed