Whole Exome Sequencing in Bicuspid Aortic Valve Patients

Not Applicable

• Conditions: Bicuspid Aortic Valve
• Interventions: Biological: Extra blood draw samples; Biological: additional tissue samples

• Registration Number: NCT02899624
• Lead Sponsor: Assistance Publique Hopitaux De Marseille

Brief Summary

Bicuspid aortic valve (BAV), congenital anomaly present in 2% of the population, is defined by the presence of two sigmoid valves instead of three. It is conventionally associated with histological abnormalities of the wall of the ascending aorta, risk factors of aortic dystrophy observed in 50% of cases, and dissection. Long considered an accident of development, the discovery of mutations in the NOTCH1 gene in 2 families alternating BAV and aortic dystrophy suggests the existence of a genetic predisposition and a common genetic origin for these two pathologies.

Data on the genetic basis of the BAV are still limited, but the existence of a large phenotypic diversity suggests the involvement of other genes. The establishment of large collections of DNA will allow great advances in this field.

The purpose of this project is to confirm the existence of a genetic determinism at the origin of the BAV with or without dystrophy of non syndromic ascending aorta, identifying genetic defects associated with the presence of a BAV in a series of candidate genes.

Detailed Description

Not available

Study Timeline

• Study Start: 2014-01
• Status Verified: 2016-09
• Study First Submitted: 2016-09-09
• Study First Submitted QC: 2016-09-09
• Last Update Submitted: 2016-09-09
• Study First Posted: 2016-09-14
• Last Update Posted: 2016-09-14
• Primary Completion: 2017-01
• Study Completion: 2018-01

Recruitment & Eligibility

• Status: UNKNOWN
• Sex: All
• Target Recruitment: 427

Inclusion Criteria

• bicuspid aortic valve, confirmed by transthoracic or transesophageal echocardiography
• With or without an aneurysm of the ascending thoracic aorta nonsyndromic

Exclusion Criteria

• aortic syndromic pathology
• antecedent of acute articular rhumatism

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: PARALLEL

Arm && Interventions

Group	Intervention	Description
Bicuspid aortic valve (BAV)	Extra blood draw samples	patient with bicuspid aortic valve
Tricuspid aortic valve (TAV)	additional tissue samples	patient with aortic stenosis on tricuspid valve
Bicuspid aortic valve (BAV)	additional tissue samples	patient with bicuspid aortic valve
healthy subjects related patients with BAV	Extra blood draw samples	healthy control, related to patient with bicuspid aortic valve, at the 1st, 2nd or 3rd degree

Primary Outcome Measures

Name	Time	Method
number of genetic abnormalities	3 years

Trial Locations

Locations (1)

Assistance Publique Hôpitaux de Marseille; 🇫🇷 Marseille, France