Clinical trial NCT02890407: Genetics of Aortic Stenosis: From Family Forms to the Common Forms
Official title: Genetics of Aortic Stenosis: From Family Forms to the Common Forms
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Aortic Stenosis
Lead sponsor: Nantes University Hospital
Sponsor class: OTHER
First posted: 2016-09-07
Enrollment: 1987
Sex: ALL
Minimum age (years): 65
Standard ages: OLDER_ADULT
Accepts healthy volunteers: no
Observational model: FAMILY_BASED
Time perspective: RETROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: 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.

Brief summary: 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.


Eligibility criteria: 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

Primary outcomes:
measure: identify the genetic factors involved in the occurrence of aortic stenosis
timeFrame: 36 months
Secondary outcomes:
Other outcomes:
Locations:
city: Angers
country: France
facility: CHU Angers
city: Nantes
country: France
facility: CHU de Nantes -
city: Rennes
country: France
facility: CHU de Rennes
Study officials:
References:
citation: Boureau AS, Karakachoff M, Le Scouarnec S, Capoulade R, Cueff C, de Decker L, Senage T, Verhoye JP, Baufreton C, Roussel JC, Dina C, Probst V, Schott JJ, Le Tourneau T. Heritability of aortic valve stenosis and bicuspid enrichment in families with aortic valve stenosis. Int J Cardiol. 2022 Jul 15;359:91-98. doi: 10.1016/j.ijcard.2022.04.022. Epub 2022 Apr 13.