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

NCT02890407 | Completed

• 1 other identifier: PROG/09/61
• Study Type: observational
• Target: 1,987
• Locations: 1 country
• Sites: 3

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.

Conditions

Aortic Stenosis

Outcome Measures

Primary Outcomes (1)

• identify the genetic factors involved in the occurrence of aortic stenosis

  36 months

Eligibility Criteria

• Age: 65 Years+
• Sex: all
• Healthy Volunteers: No
• Age Groups: Older Adult (65+)
• 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.

You may qualify if:

• 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.
• 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.

You may not qualify if:

• 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

Sponsors & Collaborators

• Nantes University Hospital: lead

Study Sites (3)

CHU Angers

Angers, France

Location

CHU de Nantes -

Nantes, France

Location

CHU de Rennes

Rennes, France

Location

Related Publications (1)

• 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.

  PMID: 35427703 DERIVED

MeSH Terms

Conditions

Aortic Valve Stenosis

Condition Hierarchy (Ancestors)

Aortic Valve Disease; Heart Valve Diseases; Heart Diseases; Cardiovascular Diseases; Ventricular Outflow Obstruction

Study Design

• Study Type: observational
• Observational Model: FAMILY BASED
• Time Perspective: RETROSPECTIVE
• Sponsor Type: OTHER
• Responsible Party: SPONSOR

Study Record Dates

• First Submitted: September 1, 2016
• First Posted: September 7, 2016
• Study Start: January 1, 2009
• Primary Completion: December 1, 2013
• Study Completion: December 1, 2013
• Last Updated: September 7, 2016

Record last verified: 2016-09

Data Sharing

• IPD Sharing: Will not share

Locations

FR (3)