Genetics of Aortic Stenosis: From Family Forms to the Common Forms

Nantes University Hospital (NUH)

Status: Completed

Conditions: Aortic Stenosis

Study type: Observational

Funder types: Other

Identifiers

NCT02890407

PROG/09/61

Details and patient eligibility

About

The association study will compare the allele frequencies of polymorphisms of a single nucleotide (SNP) in the population of individuals with aortic stenosis compared to a control population.

Patients will be included only if they are suffering from a typical form of tight and surgical tricuspid aortic stenosis. Patients will therefore only included if they are suffering from aortic stenosis, the surface is less than 1 cm² and if histological analysis or failing intraoperative findings of the surgeon showed a tricuspid aortic stenosis.

Enrollment: 1,987 patients

Sex: All

Ages: 65+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

1. Criteria has reached:

   • That patients are operated or not, they can be considered as having a degenerative aortic stenosis, patients will be diagnosed with aortic stenosis (aortic area <1 cm) without obvious cause found.

2. criteria not met

   • Strictly normal aortic valve by ultrasound in an over 65-year-old patient.
   • All patients do not fit into the above two categories are considered as having an unknown phenotype and will not be used in binding assays. In particular, the presence of an aortic sclerosis or even moderate aortic regurgitation can be considered as potentially incipient form of aortic stenosis, patients with this type of anomaly will not be scanned during family analyzes.

Exclusion criteria

• Patients who did not sign the consent
• Non degenerative aortic stenosis or for which another cause could be found.

Among the most commonly found causes are:

• Bicuspid aortic valve
• Severe renal impairment
• Severe Hypercholesterolemia